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Sample records for breast-ovarian cancer families

  1. Cancer prevalence in 129 breast-ovarian cancer families tested for ...

    African Journals Online (AJOL)

    To assess the cancer risk profile in RCA-mutationpositive and negative South African breast-ovarian cancer families, mainly of Caucasian origin. Design. Descriptive study in which the prevalence of all cancers in the pedigrees of BRCA1- and BRCA2-mutationpositive groups and a group of families without mutations in ...

  2. BRCA1 and BRCA2 Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families

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    Farid Cherbal

    2010-01-01

    Full Text Available Background: Breast cancer is the leading cause of cancer death in women in Algeria. The contribution of BRCA1 and BRCA2 mutations to hereditary breast/ovarian cancer in Algerian population is largely unknown. Here, we describe analysis of BRCA1 and BRCA2 genes in 86 individuals from 70 families from an Algerian cohort with a personal and family history suggestive of genetic predisposition to breast cancer.

  3. Familial aggregation of breast/ovarian cancer: age of onset along subsequent generations in Brazil

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    Rosalina Jorge Koifman

    1998-01-01

    Full Text Available Antecedents of familial aggregation of breast and ovarian cancer are observed in only 5-8% of all breast cancer cases. Nevertheless, this variable displays one of the highest risk ratios associated to breast cancer outcome. Despite recent identification of genetic mutations associated with familial aggregation of these tumors, mainly at BRCA1 and BRCA2 genes, knowledge on the interaction between environmental agents in these families remains quite unclear. In this paper we ascertained the correlation among ages of the onset of breast/ovarian cancer in 260 Brazilian families with those cancer aggregation. Further we estimated the median age of the onset of breast cancer among four generations. We observed that the higher the number of family cancer cases, the highest is the correlation of ages for the onset of breast cancer. We also observed a 8-10 year decline in the mean age-of-onset of breast/ovarian cancer from one generation to another in the studied families. If these results could be confirmed elsewhere, we believe that the hypothesis of interaction between environmental risks factors in families indeed showing breast/ovarian cancer aggregation is reinforced.

  4. BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk.

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    Fabrice Kwiatkowski

    Full Text Available Deleterious mutations in the BRCA genes are responsible for a small, but significant, proportion of breast and ovarian cancers (5 - 10 %. Proof of de novo mutations in hereditary breast/ovarian cancer (HBOC families is rare, in contrast to founder mutations, thousands of years old, that may be carried by as much as 1 % of a population. Thus, if mutations favoring cancer survive selection pressure through time, they must provide advantages that compensate for the loss of life expectancy.This hypothesis was tested within 2,150 HBOC families encompassing 96,325 individuals. Parameters included counts of breast/ovarian cancer, age at diagnosis, male breast cancer and other cancer locations. As expected, well-known clinical parameters discriminated between BRCA-mutated families and others: young age at breast cancer, ovarian cancer, pancreatic cancer and male breast cancer. The major fertility differences concerned men in BRCA-mutated families: they had lower first and mean age at paternity, and fewer remained childless. For women in BRCA families, the miscarriage rate was lower. In a logistic regression including clinical factors, the different miscarriage rate and men's mean age at paternity remained significant.Fertility advantages were confirmed in a subgroup of 746 BRCA mutation carriers and 483 non-carriers from BRCA mutated families. In particular, female carriers were less often nulliparous (9.1 % of carriers versus 16.0 %, p = 0.003 and had more children (1.8 ± 1.4 SD versus 1.5 ± 1.3, p = 0.002 as well as male carriers (1.7 ± 1.3 versus 1.4 ± 1.3, p = 0.024.Although BRCA mutations shorten the reproductive period due to cancer mortality, they compensate by improving fertility both in male and female carriers.

  5. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families

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    Narod, S.A. [McGill Univ., Montreal (Canada); Ford, D. [Institute of Cancer Research, Surrey (United Kingdom); Devilee, P. [Univ. of Leiden (United Kingdom); Barkardottir, R.B. [University Hospital of Iceland, Reykjavik (Iceland); Lynch, H.T. [Creighton Univ. School of Medicine, Omaha, NE (United States); Smith, S.A.; Ponder, B.A.J. [Univ. of Cambridge (United Kingdom); Weber, B.L. [Univ. of Michigan School of Medicine, Ann Arbor, MI (United States); Garber, J.E. [Dana Farber Cancer Institute, Boston, MA (United States); Birch, J.M. [Univ. of Manchester (United Kingdom)] [and others

    1995-01-01

    The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of the 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations. 39 refs., 6 figs., 3 tabs.

  6. Genetic heterogeneity and localization of a familial breast-ovarian cancer gene on chromosome 17q12-q21

    Energy Technology Data Exchange (ETDEWEB)

    Smith, S.A.; Ponder, M.; Pye, C.; Ponder, B.A.J. (Univ. of Cambridge (United Kingdom)); Easton, D.F.; Ford, D.; Peto, J.; Anderson, K.; Averill, D.; Stratton, M. (Inst. of Cancer Research, Surrey (United Kingdom))

    1993-04-01

    In a study of 31 breast cancer families and 12 breast-ovarian cancer families, we have obtained clear evidence of linkage to markers on chromosome 17q in the families with ovarian cancer (maximum lod score 3.34 at [theta] = .04) but only weak evidence in those without ovarian cancer. Recombinant events indicate that the gene lies between D17S588 and D17S250. 9 refs., 2 figs., 4 tabs.

  7. Genetic heterogeneity of breast-ovarian cancer revisited

    Energy Technology Data Exchange (ETDEWEB)

    Narod, S. [McGill Univ., Montreal (Canada); Ford, D.; Easton, D. [Univ. of Leiden (Netherlands)] [and others

    1995-10-01

    We have recently reported the results of a linkage analysis of 145 breast-ovarian cancer families. Each family has three or more cases of early-onset breast cancer (age {le}60) or of ovarian cancer, and all families have at least one case of ovarian cancer (there were nine site-specific ovarian cancer families). Overall, we estimated that 76% of the families were linked to the BRCA1 locus. 5 refs., 1 tab.

  8. Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

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    Ana Blanco

    Full Text Available BACKGROUND: The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer. METHODS: 132 non-BRCA1/BRCA2 breast/ovarian cancer families with at least one pancreatic cancer case were included in the study. PALB2 mutational analysis was performed by direct sequencing of all coding exons and intron/exon boundaries, as well as multiplex ligation-dependent probe amplification. RESULTS: Two PALB2 truncating mutations, the c.1653T>A (p.Tyr551Stop previously reported, and c.3362del (p.Gly1121ValfsX3 which is a novel frameshift mutation, were identified. Moreover, several PALB2 variants were detected; some of them were predicted as pathological by bioinformatic analysis. Considering truncating mutations, the prevalence rate of our population of BRCA1/2-negative breast cancer patients with pancreatic cancer is 1.5%. CONCLUSIONS: The prevalence rate of PALB2 mutations in non-BRCA1/BRCA2 breast/ovarian cancer families, selected from either a personal or family pancreatic cancer history, is similar to that previously described for unselected breast/ovarian cancer families. Future research directed towards identifying other gene(s involved in the development of breast/pancreatic cancer families is required.

  9. RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.

    Science.gov (United States)

    Krivokuca, Ana; Yanowski, Kira; Rakobradovic, Jelena; Benitez, Javier; Brankovic-Magic, Mirjana

    2015-01-01

    In 2010 an important finding was published showing that heterozygous mutations in RAD51C were highly penetrant and were able to confer an increased risk for breast and ovarian cancers. The role of possible third high penetrance breast cancer susceptibility gene was assigned to RAD51C. Because of its rising importance in breast cancer development and the lack of information about RAD51C in Slavic populations, our goal was to identify potential population specific mutations in this gene in order to determine more detailed genetic screening strategy and breast cancer risk assessment. The study included 55 females from Serbian hereditary breast/ovarian cancer families negative for sequence alterations and large genomic rearrangements in BRCA1/2 genes. Whole coding region and exon-intron boundaries of RAD51C were analyzed by dHPLC. All mutations were confirmed by Sanger sequencing. SIFT and Polyphen were used to predict possible impact of non-synonymous variants. We found 5 variants in RAD51C including two missense, one intronic, one in the 5'UTR and one variant in the promoter region of the gene. Three detected variants are common - c.1-118G>A (rs16943176, MAF = 0,203); c.1-26C>T (rs12946397, MAF = 0,207) and c.904+34T>C (rs28363318, MAF = 0,186). We detected two missense variants, c.790G>A (p.Gly264Ser) in exon 5 and c.859A>G (p.Thr287Ala) in exon 6. Both of them were previously shown to exhibit reduced protein function but their contribution to cancer risk is still unknown. Although the initial reports implied that RAD51C might be promising candidate for next high penetrance breast cancer susceptibility gene, lack of confirmation suggested that RAD51C mutations are not as common as expected. Our study did not reveal truncating mutations in RAD51C suggesting that other breast cancer susceptibility genes may account for the increased susceptibility in our cohort of high-risk BRCA1/2 negative families.

  10. Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families

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    Carracedo Ángel

    2007-06-01

    Full Text Available Abstract Background It is estimated that 5–10% of all breast cancer are hereditary and attributable to mutations in the highly penetrance susceptibility genes BRCA1 and BRCA2. The genetic analysis of these genes is complex and expensive essentially because their length. Nevertheless, the presence of recurrent and founder mutations allows a pre-screening for the identification of the most frequent mutations found in each geographical region. In Spain, five mutations in BRCA1 and other five in BRCA2 account for approximately 50% of the mutations detected in Spanish families. Methods We have developed a novel PCR multiplex SNaPshot reaction that targets all ten recurrent and founder mutations identified in BRCA1 and BRCA2 in Spain to date. Results The SNaPshot reaction was performed on samples previously analyzed by direct sequencing and all mutations were concordant. This strategy permits the analysis of approximately 50% of all mutations observed to be responsible for breast/ovarian cancer in Spanish families using a single reaction per patient sample. Conclusion The SNaPshot assay developed is sensitive, rapid, with minimum cost per sample and additionally can be automated for high-throughput genotyping. The SNaPshot assay outlined here is not only useful for analysis of Spanish breast/ovarian cancer families, but also e.g. for populations with Spanish ancestry, such as those in Latin America.

  11. Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin.

    Science.gov (United States)

    Santos, Catarina; Peixoto, Ana; Rocha, Patrícia; Vega, Ana; Soares, Maria José; Cerveira, Nuno; Bizarro, Susana; Pinheiro, Manuela; Pereira, Deolinda; Rodrigues, Helena; Castro, Fernando; Henrique, Rui; Teixeira, Manuel R

    2009-01-01

    We investigated the functional effect of the missense variant c.211A>G (R71G) localized at position -2 of exon 5 donor splice site in the BRCA1 gene and evaluated whether Portuguese and Galician families with this mutation share a common ancestry. Three unrelated Portuguese breast/ovarian cancer families carrying this variant were studied through qualitative and quantitative transcript analyses. We also evaluated the presence of loss of heterozigosity and the histopathologic characteristics of the carcinomas in those families. Informative families (two from Portugal and one from Galicia) were genotyped for polymorphic microsatellite markers flanking BRCA1 to reconstruct haplotypes. Qualitative RNA analysis revealed the presence of two alternative transcripts both in carriers of the BRCA1 R71G variant and in controls. Semi-quantitative fragment analysis and real-time RT-PCR showed a significant increase of the transcript with an out of frame deletion of the last 22nt of exon 5 (BRCA1-Delta22ntex5) and a decrease of the full-length transcript (BRCA1-ex5FL) in patients carrying the R71G mutation as compared to controls, whereas no significant differences were found for the transcript with in frame skipping of exon 5 (BRCA1-Deltaex5). One haplotype was found to segregate in the two informative Portuguese families and in the Galician family. We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation. Furthermore, our findings indicate a common ancestry of the Portuguese and Galician families sharing this mutation.

  12. Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment.

    Science.gov (United States)

    Vos, Joël; Menko, Fred H; Oosterwijk, Jan C; van Asperen, Christi J; Stiggelbout, Anne M; Tibben, Aad

    2013-05-01

    Many cancer-patients undergo DNA testing in the BRCA1/2 genes to receive information about the likelihood that cancer is heritable. Previous nonsystematic studies suggested that DNA testing often does not fulfill the counselees' needs for certainty. We explored the balance between the counselees' need for certainty and perceived certainty (NfC-PC, i.e., level of fulfillment of NfC) regarding the specific domains of DNA test result, heredity and cancer. We also examined relationships of NfC-PC with coping styles and distress. Before disclosure of BRCA1/2 test results for hereditary breast/ovarian cancer (T1), questionnaires were filled in by 467 cancer-patients. Another questionnaire (T2) was filled in after disclosure of pathogenic mutation results (n = 30), uninformative results (n = 202) or unclassified-variants (n = 16). Before and after DNA test result disclosure, overall 58-94% of all counselees experienced unfulfilled NfC regarding the DNA test result, heredity and cancer. Compared with T1, the communication of pathogenic mutations (T2) caused more fulfillment of the NfC about the DNA test result, but less about cancer and heredity (p NfC > PC). Compared with T1, uninformative results (T2) caused more fulfillments of all needs than before disclosure (p NfC and PC between the domains of DNA-test result, heredity and cancer (p NfC-PC) were uncorrelated with cognitive understanding of the DNA test result. The counselees' NfC needs more attention in research and practice, for example, when the potential uncertainties of testing are discussed. The counselees' NfC may be assessed and used in tailored, mutual communication of DNA test results. Copyright © 2012 John Wiley & Sons, Ltd.

  13. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

    DEFF Research Database (Denmark)

    Kuchenbaecker, Karoline B; Hopper, John L; Barnes, Daniel R

    2017-01-01

    Importance: The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. Objectives: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer hi...

  14. Modeling the dyadic effects of parenting, stress, and coping on parent–child communication in families tested for hereditary breast-ovarian cancer risk

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    Hamilton, Jada G.; Mays, Darren; DeMarco, Tiffani; Tercyak, Kenneth P.

    2016-01-01

    Genetic testing for BRCA genes, associated with hereditary breast-ovarian cancer risk, is an accepted cancer control strategy. BRCA genetic testing has both medical and psychosocial implications for individuals seeking testing and their family members. However, promoting open and adaptive communication about cancer risk in the family is challenging for parents of minor children. Using prospective data collected from mothers undergoing BRCA genetic testing and their untested co-parents (N = 102 parenting dyads), we examined how maternal and co-parent characteristics independently and conjointly influenced the overall quality of parent–child communication with minor children. Statistical associations were tested in accordance with the Actor–Partner Interdependence Model. Significant Actor effects were observed among mothers, such that open parent–child communication prior to genetic testing was positively associated with open communication 6 months following receipt of genetic test results; and among co-parents, more open parent–child communication at baseline and greater perceived quality of the parenting relationship were associated with more open parent–child communication at follow-up. Partner effects were also observed: co-parents’ baseline communication and confidence in their ability to communicate with their minor children about genetic testing was positively associated with open maternal parent– child communication at follow-up. These results demonstrate that for families facing the prospect of cancer genetic testing, perceptions and behaviors of both members of child-rearing couples have important implications for the overall quality of communication with their minor children, including communication about cancer risk. PMID:26848859

  15. Modeling the dyadic effects of parenting, stress, and coping on parent-child communication in families tested for hereditary breast-ovarian cancer risk.

    Science.gov (United States)

    Hamilton, Jada G; Mays, Darren; DeMarco, Tiffani; Tercyak, Kenneth P

    2016-10-01

    Genetic testing for BRCA genes, associated with hereditary breast-ovarian cancer risk, is an accepted cancer control strategy. BRCA genetic testing has both medical and psychosocial implications for individuals seeking testing and their family members. However, promoting open and adaptive communication about cancer risk in the family is challenging for parents of minor children. Using prospective data collected from mothers undergoing BRCA genetic testing and their untested co-parents (N = 102 parenting dyads), we examined how maternal and co-parent characteristics independently and conjointly influenced the overall quality of parent-child communication with minor children. Statistical associations were tested in accordance with the Actor-Partner Interdependence Model. Significant Actor effects were observed among mothers, such that open parent-child communication prior to genetic testing was positively associated with open communication 6 months following receipt of genetic test results; and among co-parents, more open parent-child communication at baseline and greater perceived quality of the parenting relationship were associated with more open parent-child communication at follow-up. Partner effects were also observed: co-parents' baseline communication and confidence in their ability to communicate with their minor children about genetic testing was positively associated with open maternal parent-child communication at follow-up. These results demonstrate that for families facing the prospect of cancer genetic testing, perceptions and behaviors of both members of child-rearing couples have important implications for the overall quality of communication with their minor children, including communication about cancer risk.

  16. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families

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    Pichette Roxane

    2006-09-01

    Full Text Available Abstract Background Ataxia telangiectasia-mutated and Rad3-related (ATR is a member of the PIK-related family which plays, along with ATM, a central role in cell-cycle regulation. ATR has been shown to phosphorylate several tumor suppressors like BRCA1, CHEK1 and TP53. ATR appears as a good candidate breast cancer susceptibility gene and the current study was designed to screen for ATR germline mutations potentially involved in breast cancer predisposition. Methods ATR direct sequencing was performed using a fluorescent method while widely available programs were used for linkage disequilibrium (LD, haplotype analyses, and tagging SNP (tSNP identification. Expression analyses were carried out using real-time PCR. Results The complete sequence of all exons and flanking intronic sequences were analyzed in DNA samples from 54 individuals affected with breast cancer from non-BRCA1/2 high-risk French Canadian breast/ovarian families. Although no germline mutation has been identified in the coding region, we identified 41 sequence variants, including 16 coding variants, 3 of which are not reported in public databases. SNP haplotypes were established and tSNPs were identified in 73 healthy unrelated French Canadians, providing a valuable tool for further association studies involving the ATR gene, using large cohorts. Our analyses led to the identification of two novel alternative splice transcripts. In contrast to the transcript generated by an alternative splicing site in the intron 41, the one resulting from a deletion of 121 nucleotides in exon 33 is widely expressed, at significant but relatively low levels, in both normal and tumoral cells including normal breast and ovarian tissue. Conclusion Although no deleterious mutations were identified in the ATR gene, the current study provides an haplotype analysis of the ATR gene polymorphisms, which allowed the identification of a set of SNPs that could be used as tSNPs for large-scale association

  17. Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: A genetic study of 15 185delAG-mutation kindreds

    Energy Technology Data Exchange (ETDEWEB)

    Berman, D.B.; Schultz, D.C.; Godwin, A.K. [Creighton Univ., Omaha, NE (United States)] [and others

    1996-06-01

    We screened 163 women from breast-ovarian cancer-prone families, as well as 178 individuals affected with breast and/or ovarian cancer but unselected for family history, for germ-line mutations in exon 2 of BRCA1, by SSCP analysis and direct sequencing. A total of 25 mutations were detected. Thirteen of 64 Jewish Ashkenazi women and 2 non-Jewish individuals were found to possess the 185delAG mutation. Haplotype data for all 15 individuals, with markers intragenic to BRCA1, suggest that the Jewish Ashkenazi individuals share a common ancestry that is distinct from the lineage shared by the other two women. These data provide the first evidence of two distinct lines of transmission for the 185delAG mutation, only one of which has its origins in the Jewish Ashkenazi population. Our screening also uncovered 10 affected individuals with an 11-bp deletion at nucleotide 188 of BRCA1 (188del11), 4 of whom are Ashkenazi Jews. This is only the third reported mutation detected within the Jewish Ashkenazi population and may represent the second most common alteration in BRCA1 found in Ashkenazi Jews in the United States. The observed overrepresentation of specific mutations within a subgroup of the general population may eventually contribute to the development of inexpensive and routine tests for BRCA1 mutations, as well as to the elucidation of other contributory factors (e.g., diet, environment, and chemical exposures) that may play a key role in cancer initiation and development. The implications of the mutational data, as well as the role that founder effect, demographic history, and penetrance play in the resulting observed phenomena, are discussed. 32 refs., 3 figs., 2 tabs.

  18. Unpacking the Blockers: Understanding Perceptions and Social Constraints of Health Communication in Hereditary Breast Ovarian Cancer (HBOC) Susceptibility Families

    Science.gov (United States)

    Kenen, Regina; Hoskins, Lindsey M.; Koehly, Laura M.; Graubard, Barry; Loud, Jennifer T.; Greene, Mark H.

    2012-01-01

    Family communication is essential for accurate cancer risk assessment and counseling; family blockers play a role in this communication process. This qualitative analysis of social exchanges is an extension of earlier work characterizing those who are perceived by study participants as health information gatherers, disseminators, and blockers within families with Hereditary Breast and Ovarian Cancer (HBOC) susceptibility. Eighty-nine women, ages 23–56 years, enrolled in a Breast Imaging Study (BIS) and participated in a sub-study utilizing a social assessment tool known as the Colored Ecological Genetic Relational Map (CEGRM). Purposive sampling ensured that participants varied according to numbers of participating family members e.g., ranging from 1 to 6. Eighty-nine women from 42 families (1–8 relatives/family) participated. They collectively designated 65 blockers, both male and female. Situational factors, beliefs, attitudes and cultural traditions, privacy and protectiveness comprised perceived reasons for blocking intra-family health communications. Longitudinal data collected over 4 years showed families where blocking behavior was universally recognized and stable over time, as well as other families where blocking was less consistent. Self-blocking was observed among a significant minority of participating women. Blocking of health communications among family members with HBOC was variable, complex, and multifaceted. The reasons for blocking were heterogeneous; duration of the blocking appeared to depend on the reasons for blocking. Blocking often seemed to involve bi-directional feedback loops, in keeping with Lepore’s Social Constraints and Modulation Theory. Privacy and protectiveness predominated as explanations for long-term blocking. PMID:21547418

  19. Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

    DEFF Research Database (Denmark)

    Steffensen, Ane Y; Jønson, Lars; Ejlertsen, Bent

    2010-01-01

    Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian cancer. Patients with mutations in both genes are rarely reported and often involve Ashkenazi founder mutations. Here we report the first identification of a Danish...... breast and ovarian cancer family heterozygote for mutations in the BRCA1 and BRCA2 genes. The BRCA1 nucleotide 5215G > A/c.5096G > A mutation results in the missense mutation Arg1699Gln, while the BRCA2 nucleotide 859 + 4A > G/c.631 + 4A > G is novel. Exon trapping experiments and reverse transcriptase...... (RT)-PCR analysis revealed that the BRCA2 mutation results in skipping of exon 7, thereby introducing a frameshift and a premature stop codon. We therefore classify the mutation as disease causing. Since the BRCA1 Arg1699Gln mutation is also suggested to be disease-causing, we consider this family...

  20. Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families : an explorative assessment

    NARCIS (Netherlands)

    Vos, Joel; Menko, Fred H.; Oosterwijk, Jan C.; van Asperen, Christi J.; Stiggelbout, Anne M.; Tibben, Aad

    Background Many cancer-patients undergo DNA testing in the BRCA1/2 genes to receive information about the likelihood that cancer is heritable. Previous nonsystematic studies suggested that DNA testing often does not fulfill the counselees' needs for certainty. We explored the balance between the

  1. BRCA1 1675delA and 1135insA Account for One Third of Norwegian Familial Breast-Ovarian Cancer and Are Associated with Later Disease Onset than Less Frequent Mutations

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    Åke Borg

    1999-01-01

    Full Text Available A total of 845 women from breast-ovarian cancer kindreds were enrolled in a clinical follow-up program for early disease diagnosis; 35 women were prospectively identified with cancer. In order to estimate the role of genetic factors for cancer predisposition in this well-defined set of patients, considered as representative for familial breast-ovarian cancer in the Norwegian population, the BRCA1 gene was investigated for germline mutations. The entire coding region of BRCA1 was analysed using a protein truncation test, direct sequencing and a screen for known large genomic deletions and insertions. Twenty one (60% of the 35 patients were identified as carriers of 11 distinct BRCA1 mutations. Two previously described founder mutations, 1675delA and 1135insA, were found to account for more than half (11/21 of all BRCA1 cases and for almost one third (11/35 of all breast and ovarian cancers. Supported by a previous population-based analysis of these founder mutations in ovarian cancer, our findings suggest that a significant proportion of women at risk for developing inherited breast and ovarian cancer can be identified. This is particularly obvious in certain geographic regions where these founder mutations are prevalent. Women carrying the two founder mutations had a significantly older age of disease onset as compared to women with other BRCA1 mutations. This observation indicates that BRCA mutation penetrance estimates from populations with strong founder effects may be biased. One reason why some deleterious mutations are allowed to prevail in a population may be coupled to penetrance and the fact that they seldom induce disease in women in child-bearing ages. Eleven out of 12 (92% breast cancers in BRCA1 mutation carriers were estrogen receptor negative, versus 4 out of 9 (44% in mutation negative patients (p = 0.03. Histopathological characteristics of the prospectively detected cancers indicated an unfavourable prognosis in mutation

  2. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

    DEFF Research Database (Denmark)

    Hansen, Thomas v O; Jønson, Lars; Albrechtsen, Anders

    2009-01-01

    BRCA1 and BRCA2 germ-line mutations predispose to breast and ovarian cancer. Large genomic rearrangements of BRCA1 account for 0-36% of all disease causing mutations in various populations, while large genomic rearrangements in BRCA2 are more rare. We examined 642 East Danish breast and/or ovarian...... cancer patients in whom a deleterious mutation in BRCA1 and BRCA2 was not detected by sequencing using the multiplex ligation-dependent probe amplification (MLPA) assay. We identified 15 patients with 7 different genomic rearrangements, including a BRCA1 exon 5-7 deletion with a novel breakpoint, a BRCA1...... exon 13 duplication, a BRCA1 exon 17-19 deletion, a BRCA1 exon 3-16 deletion, and a BRCA2 exon 20 deletion with a novel breakpoint as well as two novel BRCA1 exon 17-18 and BRCA1 exon 19 deletions. The large rearrangements in BRCA1 and BRCA2 accounted for 9.2% (15/163) of all BRCA1 and BRCA2 mutations...

  3. Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families.

    Science.gov (United States)

    Hendrickson, Brant C; Judkins, Thaddeus; Ward, Benjamin D; Eliason, Kristilyn; Deffenbaugh, Amie E; Burbidge, Lynn Anne; Pyne, Kristin; Leclair, Benoît; Ward, Brian E; Scholl, Thomas

    2005-07-01

    Many rearrangement mutations in the BRCA1 gene have been identified. It is becoming clear that some of these mutations are prevalent, and therefore their detection is necessary in order for clinical genetic tests to have high sensitivity. Published information on particular rearrangements is frequently limited to a single patient, small groups of patients, or patients of a particular ethnicity. The objectives of this work included characterizing the prevalence of five specific rearrangement mutations in a large North American patient population. A mutation-specific multiplex PCR assay was used for determining the prevalence of five BRCA1 rearrangement mutations that previously had been reported to occur in unrelated patients. The mutation status of these rearrangements, which came from 20,712 patients at high risk for hereditary breast and/or ovarian cancers who had submitted specimens for clinical genetic testing, is presented. The results, obtained from 2,634 mutation carriers, showed a 6-kb duplication of exon 13, identified in 53 patients (2.01%); a 26-kb deletion encompassing exons 14-20, detected in seven patients (0.27%); a 510-bp deletion of exon 22, detected in 5 patients (0.19%); and a 3.4-kb deletion of exon 13, detected in one patient (0.04%). A previously reported 7.1-kb deletion of exons 8-9 was not found. The high frequency of the exon 13 duplication makes it the fourth most prevalent mutation in these patients. These results provide an accurate picture of the prevalence of these mutations in hereditary breast/ovarian cancer patients undergoing genetic testing in North America. (c) 2005 Wiley-Liss, Inc.

  4. Advocate's Viewpoint on Hereditary Breast/Ovarian Cancer

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    Kolling-Dandrieu Francisca

    2004-08-01

    Full Text Available Abstract This paper discusses the presentation I held at the symposium on genetics during the 4th European Breast Cancer Conference held in Hamburg in March 2004. Primarily, the goals and working methods of the advocacy group specialised in Hereditary Breast/Ovarian Cancer of the Dutch Breast Cancer Patient Organisation known as BorstkankerVereniging Nederland (BVN are explained. Furthermore, some specific individual problems that mutation carriers might encounter before and after BRCA1/2 susceptibility testing are discussed. These include: dilemmas in choosing preventive interventions, dealing with the psychological impact of knowing you are a mutation carrier, dealing with the social implications of being genetically at risk, an example of insurance discrimination. In addition, some controversial social and ethical issues that are currently under debate are highlighted, such as the issue of the European patenting of the breast cancer susceptibility genes BRCA1 and BRCA2. Since this topic could also become relevant for other gene-related diseases, society as a whole has to consider the ethical and social implications related to the patenting of human genes in general. Another ethical area of debate is the controversial issue of prenatal BRCA testing and the choice of pregnancy termination. Finally, the Working Party pleads for the international co-operation and exchange of data and experience among professionals as well as patients. It appears that professionals in different European countries tend to advise on different risk management strategies and treatments and as such, the Working Party strongly advocates the international standardisation of risk management and treatment of mutation carriers. In this respect, specific attention should be given to a group that has had a non-informative or negative BRCA test result, because this group is still considered to be at high risk to develop the disease.

  5. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.

    Science.gov (United States)

    Kuchenbaecker, Karoline B; Hopper, John L; Barnes, Daniel R; Phillips, Kelly-Anne; Mooij, Thea M; Roos-Blom, Marie-José; Jervis, Sarah; van Leeuwen, Flora E; Milne, Roger L; Andrieu, Nadine; Goldgar, David E; Terry, Mary Beth; Rookus, Matti A; Easton, Douglas F; Antoniou, Antonis C; BRCA1 and BRCA2 Cohort Consortium; McGuffog, Lesley; Evans, D Gareth; Barrowdale, Daniel; Frost, Debra; Adlard, Julian; Ong, Kai-Ren; Izatt, Louise; Tischkowitz, Marc; Eeles, Ros; Davidson, Rosemarie; Hodgson, Shirley; Ellis, Steve; Nogues, Catherine; Lasset, Christine; Stoppa-Lyonnet, Dominique; Fricker, Jean-Pierre; Faivre, Laurence; Berthet, Pascaline; Hooning, Maartje J; van der Kolk, Lizet E; Kets, Carolien M; Adank, Muriel A; John, Esther M; Chung, Wendy K; Andrulis, Irene L; Southey, Melissa; Daly, Mary B; Buys, Saundra S; Osorio, Ana; Engel, Christoph; Kast, Karin; Schmutzler, Rita K; Caldes, Trinidad; Jakubowska, Anna; Simard, Jacques; Friedlander, Michael L; McLachlan, Sue-Anne; Machackova, Eva; Foretova, Lenka; Tan, Yen Y; Singer, Christian F; Olah, Edith; Gerdes, Anne-Marie; Arver, Brita; Olsson, Håkan

    2017-06-20

    The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location. Prospective cohort study of 6036 BRCA1 and 3820 BRCA2 female carriers (5046 unaffected and 4810 with breast or ovarian cancer or both at baseline) recruited in 1997-2011 through the International BRCA1/2 Carrier Cohort Study, the Breast Cancer Family Registry and the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, with ascertainment through family clinics (94%) and population-based studies (6%). The majority were from large national studies in the United Kingdom (EMBRACE), the Netherlands (HEBON), and France (GENEPSO). Follow-up ended December 2013; median follow-up was 5 years. BRCA1/2 mutations, family cancer history, and mutation location. Annual incidences, standardized incidence ratios, and cumulative risks of breast, ovarian, and contralateral breast cancer. Among 3886 women (median age, 38 years; interquartile range [IQR], 30-46 years) eligible for the breast cancer analysis, 5066 women (median age, 38 years; IQR, 31-47 years) eligible for the ovarian cancer analysis, and 2213 women (median age, 47 years; IQR, 40-55 years) eligible for the contralateral breast cancer analysis, 426 were diagnosed with breast cancer, 109 with ovarian cancer, and 245 with contralateral breast cancer during follow-up. The cumulative breast cancer risk to age 80 years was 72% (95% CI, 65%-79%) for BRCA1 and 69% (95% CI, 61%-77%) for BRCA2 carriers. Breast cancer incidences increased rapidly in early adulthood until ages 30 to 40 years for BRCA1 and until ages 40 to 50 years for BRCA2 carriers, then remained at a similar, constant incidence (20-30 per 1000 person-years) until age 80 years. The cumulative ovarian cancer risk to age 80 years was 44

  6. Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

    Science.gov (United States)

    Kraus, Cornelia; Hoyer, Juliane; Vasileiou, Georgia; Wunderle, Marius; Lux, Michael P; Fasching, Peter A; Krumbiegel, Mandy; Uebe, Steffen; Reuter, Miriam; Beckmann, Matthias W; Reis, André

    2017-01-01

    Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high- and moderate to low-penetrance susceptibility genes. With the advent of next generation sequencing (NGS) simultaneous testing of these genes has become feasible. In this monocentric study, we report results of panel-based screening of 14 BC/OC susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, TP53, MLH1, MSH2, MSH6 and PMS2) in a group of 581 consecutive individuals from a German population with BC and/or OC fulfilling diagnostic criteria for BRCA1 and BRCA2 testing including 179 with a triple-negative tumor. Altogether we identified 106 deleterious mutations in 105 (18%) patients in 10 different genes, including seven different exon deletions. Of these 106 mutations, 16 (15%) were novel and only six were found in BRCA1/2. To further characterize mutations located in or nearby splicing consensus sites we performed RT-PCR analysis which allowed confirmation of pathogenicity in 7 of 9 mutations analyzed. In PALB2, we identified a deleterious variant in six cases. All but one were associated with early onset BC and a positive family history indicating that penetrance for PALB2 mutations is comparable to BRCA2. Overall, extended testing beyond BRCA1/2 identified a deleterious mutation in further 6% of patients. As a downside, 89 variants of uncertain significance were identified highlighting the need for comprehensive variant databases. In conclusion, panel testing yields more accurate information on genetic cancer risk than assessing BRCA1/2 alone and wide-spread testing will help improve penetrance assessment of variants in these risk genes. © 2016 UICC.

  7. Endometrial cancers in mutation carriers from hereditary breast ovarian cancer syndrome kindreds: report from the Creighton University Hereditary Cancer Registry with review of the implications.

    Science.gov (United States)

    Casey, Murray Joseph; Bewtra, Chhanda; Lynch, Henry T; Snyder, Carrie L; Stacey, Mark

    2015-05-01

    The aim of this study was to categorize and report endometrial cancers in mutation carriers from hereditary breast ovarian cancer families. Our Hereditary Cancer Registry was searched for gynecologic and peritoneal cancers linked to mutations in BRCA1 or BRCA2. Invasive cancers were registered in 101 mutation carriers with complete pathology reports. Efforts were made to secure diagnostic surgical pathology tissues for review. All records and available diagnostic slides were meticulously studied, and primary cancers were classified. Eight malignancies were classified as primary endometrial cancers. Five of these were low- or intermediate-grade endometrioid carcinomas, and 3 were pure serous carcinomas or contained serous carcinoma elements mixed with high-grade endometrioid carcinoma. Breast cancers were diagnosed in 5 patients before and in 1 patient after endometrial carcinoma. Three endometrioid carcinomas were preceded by estrogen treatment, 2 for many years and the other for only 2 months, and 2 of the patients with serous carcinoma had been treated with tamoxifen. The finding that 8 of gynecologic and peritoneal cancers in 101 mutation carriers were endometrial cancers with a smaller proportion of endometrioid carcinomas than reported in general populations is added to the current controversial literature on endometrial cancer, particularly regarding serous carcinomas, in hereditary breast ovarian cancer syndrome. Well-designed prospective programs for standardized surgical and pathologic handling, processing, and reporting are essential for working out the pathogenesis, true risks, and best management of this disease in carriers of deleterious BRCA1 and BRCA2 germline mutations.

  8. Familial aggregation of breast/ovarian cancer: age of onset along subsequent generations in Brazil Agregação familiar de câncer de mama e ovário: idade de manifestação em gerações subseqüentes no Brasil

    Directory of Open Access Journals (Sweden)

    Rosalina Jorge Koifman

    1998-01-01

    Full Text Available Antecedents of familial aggregation of breast and ovarian cancer are observed in only 5-8% of all breast cancer cases. Nevertheless, this variable displays one of the highest risk ratios associated to breast cancer outcome. Despite recent identification of genetic mutations associated with familial aggregation of these tumors, mainly at BRCA1 and BRCA2 genes, knowledge on the interaction between environmental agents in these families remains quite unclear. In this paper we ascertained the correlation among ages of the onset of breast/ovarian cancer in 260 Brazilian families with those cancer aggregation. Further we estimated the median age of the onset of breast cancer among four generations. We observed that the higher the number of family cancer cases, the highest is the correlation of ages for the onset of breast cancer. We also observed a 8-10 year decline in the mean age-of-onset of breast/ovarian cancer from one generation to another in the studied families. If these results could be confirmed elsewhere, we believe that the hypothesis of interaction between environmental risks factors in families indeed showing breast/ovarian cancer aggregation is reinforced.A presença de antecedentes de agregação familiar de câncer de mama e ovário é observada em apenas 5% a 8% de todos os casos de câncer de mama. Esta variável, entretanto, é uma das que apresenta maior razão de riscos para o desfecho câncer de mama. Apesar da identificação recente de mutações genéticas associadas com a agregação familiar destes tumores, sobretudo nos genes BRCA1 e BRCA2, o conhecimento sobre as interações entre fatores ambientais e genéticos nessas famílias permanece relativamente obscuro. Neste trabalho, determinamos a correlação das idades de início de câncer de mama e ovário em 260 famílias com agrupação daqueles tumores. Posteriormente, foi estimada a idade média de início destes tumores ao longo de quatro gerações. Observou-se que

  9. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.

    Science.gov (United States)

    Kar, Siddhartha P; Beesley, Jonathan; Amin Al Olama, Ali; Michailidou, Kyriaki; Tyrer, Jonathan; Kote-Jarai, ZSofia; Lawrenson, Kate; Lindstrom, Sara; Ramus, Susan J; Thompson, Deborah J; Kibel, Adam S; Dansonka-Mieszkowska, Agnieszka; Michael, Agnieszka; Dieffenbach, Aida K; Gentry-Maharaj, Aleksandra; Whittemore, Alice S; Wolk, Alicja; Monteiro, Alvaro; Peixoto, Ana; Kierzek, Andrzej; Cox, Angela; Rudolph, Anja; Gonzalez-Neira, Anna; Wu, Anna H; Lindblom, Annika; Swerdlow, Anthony; Ziogas, Argyrios; Ekici, Arif B; Burwinkel, Barbara; Karlan, Beth Y; Nordestgaard, Børge G; Blomqvist, Carl; Phelan, Catherine; McLean, Catriona; Pearce, Celeste Leigh; Vachon, Celine; Cybulski, Cezary; Slavov, Chavdar; Stegmaier, Christa; Maier, Christiane; Ambrosone, Christine B; Høgdall, Claus K; Teerlink, Craig C; Kang, Daehee; Tessier, Daniel C; Schaid, Daniel J; Stram, Daniel O; Cramer, Daniel W; Neal, David E; Eccles, Diana; Flesch-Janys, Dieter; Edwards, Digna R Velez; Wokozorczyk, Dominika; Levine, Douglas A; Yannoukakos, Drakoulis; Sawyer, Elinor J; Bandera, Elisa V; Poole, Elizabeth M; Goode, Ellen L; Khusnutdinova, Elza; Høgdall, Estrid; Song, Fengju; Bruinsma, Fiona; Heitz, Florian; Modugno, Francesmary; Hamdy, Freddie C; Wiklund, Fredrik; Giles, Graham G; Olsson, Håkan; Wildiers, Hans; Ulmer, Hans-Ulrich; Pandha, Hardev; Risch, Harvey A; Darabi, Hatef; Salvesen, Helga B; Nevanlinna, Heli; Gronberg, Henrik; Brenner, Hermann; Brauch, Hiltrud; Anton-Culver, Hoda; Song, Honglin; Lim, Hui-Yi; McNeish, Iain; Campbell, Ian; Vergote, Ignace; Gronwald, Jacek; Lubiński, Jan; Stanford, Janet L; Benítez, Javier; Doherty, Jennifer A; Permuth, Jennifer B; Chang-Claude, Jenny; Donovan, Jenny L; Dennis, Joe; Schildkraut, Joellen M; Schleutker, Johanna; Hopper, John L; Kupryjanczyk, Jolanta; Park, Jong Y; Figueroa, Jonine; Clements, Judith A; Knight, Julia A; Peto, Julian; Cunningham, Julie M; Pow-Sang, Julio; Batra, Jyotsna; Czene, Kamila; Lu, Karen H; Herkommer, Kathleen; Khaw, Kay-Tee; Matsuo, Keitaro; Muir, Kenneth; Offitt, Kenneth; Chen, Kexin; Moysich, Kirsten B; Aittomäki, Kristiina; Odunsi, Kunle; Kiemeney, Lambertus A; Massuger, Leon F A G; Fitzgerald, Liesel M; Cook, Linda S; Cannon-Albright, Lisa; Hooning, Maartje J; Pike, Malcolm C; Bolla, Manjeet K; Luedeke, Manuel; Teixeira, Manuel R; Goodman, Marc T; Schmidt, Marjanka K; Riggan, Marjorie; Aly, Markus; Rossing, Mary Anne; Beckmann, Matthias W; Moisse, Matthieu; Sanderson, Maureen; Southey, Melissa C; Jones, Michael; Lush, Michael; Hildebrandt, Michelle A T; Hou, Ming-Feng; Schoemaker, Minouk J; Garcia-Closas, Montserrat; Bogdanova, Natalia; Rahman, Nazneen; Le, Nhu D; Orr, Nick; Wentzensen, Nicolas; Pashayan, Nora; Peterlongo, Paolo; Guénel, Pascal; Brennan, Paul; Paulo, Paula; Webb, Penelope M; Broberg, Per; Fasching, Peter A; Devilee, Peter; Wang, Qin; Cai, Qiuyin; Li, Qiyuan; Kaneva, Radka; Butzow, Ralf; Kopperud, Reidun Kristin; Schmutzler, Rita K; Stephenson, Robert A; MacInnis, Robert J; Hoover, Robert N; Winqvist, Robert; Ness, Roberta; Milne, Roger L; Travis, Ruth C; Benlloch, Sara; Olson, Sara H; McDonnell, Shannon K; Tworoger, Shelley S; Maia, Sofia; Berndt, Sonja; Lee, Soo Chin; Teo, Soo-Hwang; Thibodeau, Stephen N; Bojesen, Stig E; Gapstur, Susan M; Kjær, Susanne Krüger; Pejovic, Tanja; Tammela, Teuvo L J; Dörk, Thilo; Brüning, Thomas; Wahlfors, Tiina; Key, Tim J; Edwards, Todd L; Menon, Usha; Hamann, Ute; Mitev, Vanio; Kosma, Veli-Matti; Setiawan, Veronica Wendy; Kristensen, Vessela; Arndt, Volker; Vogel, Walther; Zheng, Wei; Sieh, Weiva; Blot, William J; Kluzniak, Wojciech; Shu, Xiao-Ou; Gao, Yu-Tang; Schumacher, Fredrick; Freedman, Matthew L; Berchuck, Andrew; Dunning, Alison M; Simard, Jacques; Haiman, Christopher A; Spurdle, Amanda; Sellers, Thomas A; Hunter, David J; Henderson, Brian E; Kraft, Peter; Chanock, Stephen J; Couch, Fergus J; Hall, Per; Gayther, Simon A; Easton, Douglas F; Chenevix-Trench, Georgia; Eeles, Rosalind; Pharoah, Paul D P; Lambrechts, Diether

    2016-09-01

    Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these cancers totaling 112,349 cases and 116,421 controls of European ancestry, all together and in pairs, identified at P cancer loci: three associated with susceptibility to all three cancers (rs17041869/2q13/BCL2L11; rs7937840/11q12/INCENP; rs1469713/19p13/GATAD2A), two breast and ovarian cancer risk loci (rs200182588/9q31/SMC2; rs8037137/15q26/RCCD1), and two breast and prostate cancer risk loci (rs5013329/1p34/NSUN4; rs9375701/6q23/L3MBTL3). Index variants in five additional regions previously associated with only one cancer also showed clear association with a second cancer type. Cell-type-specific expression quantitative trait locus and enhancer-gene interaction annotations suggested target genes with potential cross-cancer roles at the new loci. Pathway analysis revealed significant enrichment of death receptor signaling genes near loci with P cancer meta-analysis. We demonstrate that combining large-scale GWA meta-analysis findings across cancer types can identify completely new risk loci common to breast, ovarian, and prostate cancers. We show that the identification of such cross-cancer risk loci has the potential to shed new light on the shared biology underlying these hormone-related cancers. Cancer Discov; 6(9); 1052-67. ©2016 AACR.This article is highlighted in the In This Issue feature, p. 932. ©2016 American Association for Cancer Research.

  10. Single nucleotide polymorphisms in miRNA binding sites and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high-risk women.

    Science.gov (United States)

    Kontorovich, Tair; Levy, Asaf; Korostishevsky, Michael; Nir, Uri; Friedman, Eitan

    2010-08-01

    We hypothesized that aberrant gene silencing by miRNA may affect mutant BRCA penetrance. To test this notion, frequency of single nucleotide polymorphisms (SNPs; n = 42) within predicted miRNA binding sites or miRNA precursors were determined and compared in 363 BRCA1 mutation carriers: asymptomatic (n = 160), breast cancer (n = 140) and ovarian cancer (n = 63) patients, and in 125 BRCA2 mutation carriers: asymptomatic (n = 48), breast cancer (n = 58) and ovarian cancer (n = 19) patients. Overall, 16 of 42 SNPs were polymorphic, 11 had a minor allele frequency greater than 5% and 9 of them maintained the Hardy-Weinberg Equilibrium. Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted in BRCA2 mutation carriers by health status in 3 SNPs: CC homozygosity at rs6505162 increased ovarian cancer risk (RR 2.77; p = 0.028; 95% CI, 1.11-6.9); heterozygote SNP carriers of rs11169571 had an approximately 2 fold increased risk for developing breast/ovarian cancer, whereas heterozygotes of the rs895819 SNP had an approximately 50% reduced risk for developing breast/ovarian cancer. This study provides preliminary evidence for another regulatory level of penetrance of deleterious mutations in cancer predisposition genes.

  11. Guidelines for complex genetic analysis of hereditary breast ovarian cancer syndrome in slovak population

    Directory of Open Access Journals (Sweden)

    Konecny M

    2015-12-01

    Full Text Available Genetic diagnostics of hereditary breast and ovarian cancer (HBOC has been performed in Slovakia in many different forms before the year 2000. Complex HBOC genetic analysis consists of many steps, including the initial genetic consultation, laboratory testing of genes associated with HBOC, interpretation and report of DNA analysis results, secondary explanatory genetic consultation and recommendation of clinical management for pathological mutation carriers. Many clinicians are participating on this workflow, such as clinical geneticists, laboratory diagnosticians as well as gynaecologists, oncologists or radio-diagnosticians. Currently, genetic testing is still technically and financially demanding and aimed only at selected families or patients who fulfil the defined clinical indication criteria.

  12. Genome-wide Meta-analyses of Breast, Ovarian and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by At Least Two Cancer Types

    Science.gov (United States)

    Kar, Siddhartha P.; Beesley, Jonathan; Al Olama, Ali Amin; Michailidou, Kyriaki; Tyrer, Jonathan; Kote-Jarai, ZSofia; Lawrenson, Kate; Lindstrom, Sara; Ramus, Susan J.; Thompson, Deborah J.; Kibel, Adam S.; Dansonka-Mieszkowska, Agnieszka; Michael, Agnieszka; Dieffenbach, Aida K.; Gentry-Maharaj, Aleksandra; Whittemore, Alice S.; Wolk, Alicja; Monteiro, Alvaro; Peixoto, Ana; Kierzek, Andrzej; Cox, Angela; Rudolph, Anja; Gonzalez-Neira, Anna; Wu, Anna H.; Lindblom, Annika; Swerdlow, Anthony; Ziogas, Argyrios; Ekici, Arif B.; Burwinkel, Barbara; Karlan, Beth Y.; Nordestgaard, Børge G.; Blomqvist, Carl; Phelan, Catherine; McLean, Catriona; Pearce, Celeste Leigh; Vachon, Celine; Cybulski, Cezary; Slavov, Chavdar; Stegmaier, Christa; Maier, Christiane; Ambrosone, Christine B.; Høgdall, Claus K.; Teerlink, Craig C.; Kang, Daehee; Tessier, Daniel C.; Schaid, Daniel J.; Stram, Daniel O.; Cramer, Daniel W.; Neal, David E.; Eccles, Diana; Flesch-Janys, Dieter; Velez Edwards, Digna R.; Wokozorczyk, Dominika; Levine, Douglas A.; Yannoukakos, Drakoulis; Sawyer, Elinor J.; Bandera, Elisa V.; Poole, Elizabeth M.; Goode, Ellen L.; Khusnutdinova, Elza; Høgdall, Estrid; Song, Fengju; Bruinsma, Fiona; Heitz, Florian; Modugno, Francesmary; Hamdy, Freddie C.; Wiklund, Fredrik; Giles, Graham G.; Olsson, Håkan; Wildiers, Hans; Ulmer, Hans-Ulrich; Pandha, Hardev; Risch, Harvey A.; Darabi, Hatef; Salvesen, Helga B.; Nevanlinna, Heli; Gronberg, Henrik; Brenner, Hermann; Brauch, Hiltrud; Anton-Culver, Hoda; Song, Honglin; Lim, Hui-Yi; McNeish, Iain; Campbell, Ian; Vergote, Ignace; Gronwald, Jacek; Lubiński, Jan; Stanford, Janet L.; Benítez, Javier; Doherty, Jennifer A.; Permuth, Jennifer B.; Chang-Claude, Jenny; Donovan, Jenny L.; Dennis, Joe; Schildkraut, Joellen M.; Schleutker, Johanna; Hopper, John L.; Kupryjanczyk, Jolanta; Park, Jong Y.; Figueroa, Jonine; Clements, Judith A.; Knight, Julia A.; Peto, Julian; Cunningham, Julie M.; Pow-Sang, Julio; Batra, Jyotsna; Czene, Kamila; Lu, Karen H.; Herkommer, Kathleen; Khaw, Kay-Tee; Matsuo, Keitaro; Muir, Kenneth; Offitt, Kenneth; Chen, Kexin; Moysich, Kirsten B.; Aittomäki, Kristiina; Odunsi, Kunle; Kiemeney, Lambertus A.; Massuger, Leon F.A.G.; Fitzgerald, Liesel M.; Cook, Linda S.; Cannon-Albright, Lisa; Hooning, Maartje J.; Pike, Malcolm C.; Bolla, Manjeet K.; Luedeke, Manuel; Teixeira, Manuel R.; Goodman, Marc T.; Schmidt, Marjanka K.; Riggan, Marjorie; Aly, Markus; Rossing, Mary Anne; Beckmann, Matthias W.; Moisse, Matthieu; Sanderson, Maureen; Southey, Melissa C.; Jones, Michael; Lush, Michael; Hildebrandt, Michelle A. T.; Hou, Ming-Feng; Schoemaker, Minouk J.; Garcia-Closas, Montserrat; Bogdanova, Natalia; Rahman, Nazneen; Le, Nhu D.; Orr, Nick; Wentzensen, Nicolas; Pashayan, Nora; Peterlongo, Paolo; Guénel, Pascal; Brennan, Paul; Paulo, Paula; Webb, Penelope M.; Broberg, Per; Fasching, Peter A.; Devilee, Peter; Wang, Qin; Cai, Qiuyin; Li, Qiyuan; Kaneva, Radka; Butzow, Ralf; Kopperud, Reidun Kristin; Schmutzler, Rita K.; Stephenson, Robert A.; MacInnis, Robert J.; Hoover, Robert N.; Winqvist, Robert; Ness, Roberta; Milne, Roger L.; Travis, Ruth C.; Benlloch, Sara; Olson, Sara H.; McDonnell, Shannon K.; Tworoger, Shelley S.; Maia, Sofia; Berndt, Sonja; Lee, Soo Chin; Teo, Soo-Hwang; Thibodeau, Stephen N.; Bojesen, Stig E.; Gapstur, Susan M.; Kjær, Susanne Krüger; Pejovic, Tanja; Tammela, Teuvo L.J.; Dörk, Thilo; Brüning, Thomas; Wahlfors, Tiina; Key, Tim J.; Edwards, Todd L.; Menon, Usha; Hamann, Ute; Mitev, Vanio; Kosma, Veli-Matti; Setiawan, Veronica Wendy; Kristensen, Vessela; Arndt, Volker; Vogel, Walther; Zheng, Wei; Sieh, Weiva; Blot, William J.; Kluzniak, Wojciech; Shu, Xiao-Ou; Gao, Yu-Tang; Schumacher, Fredrick; Freedman, Matthew L.; Berchuck, Andrew; Dunning, Alison M.; Simard, Jacques; Haiman, Christopher A.; Spurdle, Amanda; Sellers, Thomas A.; Hunter, David J.; Henderson, Brian E.; Kraft, Peter; Chanock, Stephen J.; Couch, Fergus J.; Hall, Per; Gayther, Simon A.; Easton, Douglas F.; Chenevix-Trench, Georgia; Eeles, Rosalind; Pharoah, Paul D.P.; Lambrechts, Diether

    2016-01-01

    Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these cancers totaling 112,349 cases and 116,421 controls of European ancestry, all together and in pairs, identified at P < 10−8 seven new cross-cancer loci: three associated with susceptibility to all three cancers (rs17041869/2q13/BCL2L11; rs7937840/11q12/INCENP; rs1469713/19p13/GATAD2A), two breast and ovarian cancer risk loci (rs200182588/9q31/SMC2; rs8037137/15q26/RCCD1), and two breast and prostate cancer risk loci (rs5013329/1p34/NSUN4; rs9375701/6q23/L3MBTL3). Index variants in five additional regions previously associated with only one cancer also showed clear association with a second cancer type. Cell-type specific expression quantitative trait locus and enhancer-gene interaction annotations suggested target genes with potential cross-cancer roles at the new loci. Pathway analysis revealed significant enrichment of death receptor signaling genes near loci with P < 10−5 in the three-cancer meta-analysis. PMID:27432226

  13. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

    NARCIS (Netherlands)

    Asperen, van C.J.; Brohet, R.M.; Meijers-Heijboer, H.; Hoogerbrugge, N.; Verhoef, S; Vasen, HF; Ausems, M.G.; Menko, F.H.; Garcia, E.B. Gomez; Klijn, JG; Hogervorst, FB; Houwelingen, J.C.; Veer, van 't L.J.; Rookus, M.A.; Leeuwen, van F.E.

    2005-01-01

    BACKGROUND: In BRCA2 mutation carriers, increased risks have been reported for several cancer sites besides breast and ovary. As most of the families included in earlier reports were selected on the basis of multiple breast/ovarian cancer cases, it is possible that risk estimates may differ in

  14. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

    NARCIS (Netherlands)

    Asperen, C.J. van; Brohet, R.M.; Meijers-Heijboer, E.J.; Hoogerbrugge-van der Linden, N.; Verhoef, S.; Vasen, H.F.; Ausems, M.G.E.M.; Menko, F.H.; Gomez Garcia, E.B.; Klijn, J.G.M.; Hogervorst, F.B.L.; Houwelingen, J.C. van; Veer, L.J. van 't; Rookus, M.A.; Leeuwen, F.E. van

    2005-01-01

    BACKGROUND: In BRCA2 mutation carriers, increased risks have been reported for several cancer sites besides breast and ovary. As most of the families included in earlier reports were selected on the basis of multiple breast/ovarian cancer cases, it is possible that risk estimates may differ in

  15. BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer

    DEFF Research Database (Denmark)

    Thomassen, Mads; Hansen, Thomas V O; Borg, Ake

    2008-01-01

    A national study of BRCA1 and BRCA2 mutations in Danish HBOC (Hereditary Breast Ovarian Cancer) families revealed a total number of 322 mutation positive families, 206 (64%) BRCA1 and 116 (36%) BRCA2 positive families from a population of 5.5 million inhabitants. Seven hundred and twenty six...

  16. Development of genetic testing for breast, ovarian and colorectal cancer predisposition: a step closer to targeted cancer prevention.

    Science.gov (United States)

    Eccles, D M

    2011-12-01

    Individuals who inherit a high penetrance cancer susceptibility gene represent a population in which cancer diagnoses occur at younger ages and much more frequently than in the general population. Screening regimens aimed at early detection of cancer may reduce cancer mortality but in order to reduce cancer incidence, surgery and medical therapies have been advocated. In high genetic risk patients, either surgical or medical intervention may provide long term protection against cancer and at young ages co-morbidities will be low. The use of genetic testing for high risk predisposition genes to refine risk estimates and inform choices about cancer prevention is now readily available in many countries and routinely used to target cancer prevention strategies. Surgical approaches to cancer prevention are currently the mainstay in many conditions where a high risk is identified but medical prevention strategies also have demonstrated some efficacy in lowering cancer risk. Using the genetic status of an individual to target cancer treatment and prevent recurrence is increasingly gaining momentum as clinical trials involving known high risk gene carriers are now being conducted using both established cytotoxic drugs and novel targeted agents. Translation of new mechanistic insights into beneficial clinical care strategies requires more research. Robust evidence supporting medical approaches to cancer prevention in particular will require well designed large international collaborative clinical trials.

  17. Adaptation of couples living with a high risk of breast/ovarian cancer and the association with risk-reducing surgery.

    Science.gov (United States)

    Shapira, Rachel; Turbitt, Erin; Erby, Lori H; Biesecker, Barbara B; Klein, William M P; Hooker, Gillian W

    2017-12-05

    Women who carry BRCA1/2 mutations have a significantly elevated risk for breast and ovarian cancer. The positive test result and subsequent decisions about risk reducing behaviors can evoke distress, anxiety and worry. Psychological adaptation, or the process of coming to terms with the implications of a health threat, is an understudied construct in BRCA1/2 carriers. Little is known about adaptation and how it relates to other aspects of living at high risk for cancer. Even less is understood about adaptation among partners of BRCA1/2 carriers, and its relationship to adaptation in high risk individuals. Women at increased risk of breast/ovarian cancer (N = 103) and a subset of partners (N = 39) completed questionnaires that assessed risk management decisions (e.g. screening, risk-reducing surgery), dyadic coping, and the outcome of psychological adaptation. Women who had undergone risk-reducing mastectomy (RRM) had significantly higher levels of adaptation than those who had not (t = 5.5, p adaptation than partners of women who had not undergone RRM (t = 3.7, p = 0.01, d = 0.96), though this association was not statistically significant when controlling for carriers' adaptation. Undergoing risk-reducing oophorectomy was not associated with adaptation for BRCA1/2 carriers or their partners. Risk-reducing mastectomy is a significant event in the process of adapting to life at risk for hereditary cancer. Further, adaptation among partners is highly related to adaptation in carriers. These results aid in the understanding of the experience of couples living with cancer risk and the medical decisions related to adaptation.

  18. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

    DEFF Research Database (Denmark)

    Lawrenson, Kate; Kar, Siddhartha; McCue, Karen

    2016-01-01

    A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER...

  19. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

    DEFF Research Database (Denmark)

    Lawrenson, Kate; Kar, Siddhartha; McCue, Karen

    2016-01-01

    A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-n...

  20. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

    NARCIS (Netherlands)

    K. Lawrenson (Kate); S. Kar (Siddhartha); K. McCue (Karen); Kuchenbaeker, K. (Karoline); K. Michailidou (Kyriaki); J.P. Tyrer (Jonathan); J. Beesley (Jonathan); S.J. Ramus (Susan); Li, Q. (Qiyuan); Delgado, M.K. (Melissa K.); J.M. Lee (Janet M.); K. Aittomäki (Kristiina); I.L. Andrulis (Irene); H. Anton-Culver (Hoda); Arndt, V. (Volker); B.K. Arun (Banu); B. Arver (Brita Wasteson); E.V. Bandera (Elisa); M. Barile (Monica); Barkardottir, R.B. (Rosa B.); D. Barrowdale (Daniel); M.W. Beckmann (Matthias); J. Benítez (Javier); A. Berchuck (Andrew); M. Bisogna (Maria); L. Bjorge (Line); C. Blomqvist (Carl); W.J. Blot (William); N.V. Bogdanova (Natalia); Bojesen, A. (Anders); S.E. Bojesen (Stig); M.K. Bolla (Manjeet K.); B. Bonnani (Bernardo); A.-L. Borresen-Dale (Anne-Lise); H. Brauch (Hiltrud); P. Brennan (Paul); H. Brenner (Hermann); F. Bruinsma (Fiona); J. Brunet (Joan); S.A.B.S. Buhari (Shaik Ahmad Bin Syed); B. Burwinkel (Barbara); R. Butzow (Ralf); S.S. Buys (Saundra); Q. Cai (Qiuyin); T. Caldes (Trinidad); I. Campbell (Ian); Canniotto, R. (Rikki); J. Chang-Claude (Jenny); Chiquette, J. (Jocelyne); Choi, J.-Y. (Ji-Yeob); K.B.M. Claes (Kathleen B.M.); L.S. Cook (Linda S.); A. Cox (Angela); D.W. Cramer (Daniel); S.S. Cross (Simon); C. Cybulski (Cezary); K. Czene (Kamila); M.B. Daly (Mary B.); F. Damiola (Francesca); A. Dansonka-Mieszkowska (Agnieszka); H. Darabi (Hatef); J. Dennis (Joe); P. Devilee (Peter); O. Díez (Orland); J.A. Doherty (Jennifer A.); S.M. Domchek (Susan); C.M. Dorfling (Cecilia); T. Dörk (Thilo); M. Dumont (Martine); H. Ehrencrona (Hans); B. Ejlertsen (Bent); S.D. Ellis (Steve); C.W. Engel (Christoph); E. Lee (Eunjung); Evans, D.G. (D. Gareth); P.A. Fasching (Peter); L. Feliubadaló (L.); J.D. Figueroa (Jonine); D. Flesch-Janys (Dieter); O. Fletcher (Olivia); H. Flyger (Henrik); L. Foretova (Lenka); F. Fostira (Florentia); W.D. Foulkes (William); B.L. Fridley (Brooke); E. Friedman (Eitan); D. Frost (Debra); Gambino, G. (Gaetana); P.A. Ganz (Patricia A.); J. Garber (Judy); M. García-Closas (Montserrat); A. Gentry-Maharaj (Aleksandra); M. Ghoussaini (Maya); G.G. Giles (Graham); R. Glasspool (Rosalind); A.K. Godwin (Andrew K.); M.S. Goldberg (Mark); D. Goldgar (David); A. González-Neira (Anna); E.L. Goode (Ellen); M.T. Goodman (Marc); M.H. Greene (Mark H.); J. Gronwald (Jacek); P. Guénel (Pascal); C.A. Haiman (Christopher A.); P. Hall (Per); Hallberg, E. (Emily); U. Hamann (Ute); T.V.O. Hansen (Thomas); P. harrington (Patricia); J.M. Hartman (Joost); N. Hassan (Norhashimah); S. Healey (Sue); P.U. Heitz; J. Herzog (Josef); E. Høgdall (Estrid); C.K. Høgdall (Claus); F.B.L. Hogervorst (Frans); A. Hollestelle (Antoinette); J.L. Hopper (John); P.J. Hulick (Peter); T. Huzarski (Tomasz); E.N. Imyanitov (Evgeny); C. Isaacs (Claudine); H. Ito (Hidemi); A. Jakubowska (Anna); R. Janavicius (Ramunas); A. Jensen (Allan); E.M. John (Esther); Johnson, N. (Nichola); M. Kabisch (Maria); D. Kang (Daehee); M.K. Kapuscinski (Miroslav K.); Karlan, B.Y. (Beth Y.); S. Khan (Sofia); L.A.L.M. Kiemeney (Bart); M. Kjaer (Michael); J.A. Knight (Julia); I. Konstantopoulou (I.); V-M. Kosma (Veli-Matti); V. Kristensen (Vessela); J. Kupryjanczyk (Jolanta); A. Kwong (Ava); M. de La Hoya (Miguel); Y. Laitman (Yael); Lambrechts, D. (Diether); N.D. Le (Nhu D.); K. De Leeneer (Kim); K.J. Lester (Kathryn); D.A. Levine (Douglas); J. Li (Jingmei); A. Lindblom (Annika); J. Long (Jirong); A. Lophatananon (Artitaya); J.T. Loud (Jennifer); K.H. Lu (Karen); J. Lubinski (Jan); A. Mannermaa (Arto); S. Manoukian (Siranoush); L. Le Marchand (Loic); S. Margolin (Sara); F. Marme (Frederick); L.F. Massuger (Leon); K. Matsuo (Keitaro); S. Mazoyer (Sylvie); L. McGuffog (Lesley); C.A. McLean (Catriona Ann); I. McNeish (Iain); A. Meindl (Alfons); U. Menon (Usha); Mensenkamp, A.R. (Arjen R.); R.L. Milne (Roger); M. Montagna (Marco); K.B. Moysich (Kirsten); K.R. Muir (K.); A.-M. Mulligan (Anna-Marie); K.L. Nathanson (Katherine); R.B. Ness (Roberta); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); S. Nord (Silje); R.L. Nussbaum (Robert L.); K. Odunsi (Kunle); K. Offit (Kenneth); E. Olah; O.I. Olopade (Olufunmilayo I.); J.E. Olson (Janet); C. Olswold (Curtis); D.M. O'Malley (David M.); I. Orlow (Irene); N. Orr (Nick); A. Osorio (Ana); Park, S.K. (Sue Kyung); C.L. Pearce (Celeste); T. Pejovic (Tanja); P. Peterlongo (Paolo); G. Pfeiler (Georg); C. Phelan (Catherine); E.M. Poole (Elizabeth); K. Pykäs (Katri); P. Radice (Paolo); J. Rantala (Johanna); M.U. Rashid (Muhammad); G. Rennert (Gad); V. Rhenius (Valerie); K. Rhiem (Kerstin); H. Risch (Harvey); G.C. Rodriguez (Gustavo); M.A. Rossing (Mary Anne); Rudolph, A. (Anja); H.B. Salvesen (Helga); Sangrajrang, S. (Suleeporn); Sawyer, E.J. (Elinor J.); J.M. Schildkraut (Joellen); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); T.A. Sellers (Thomas A.); C.M. Seynaeve (Caroline); Shah, M. (Mitul); C.-Y. Shen (Chen-Yang); X.-O. Shu (Xiao-Ou); W. Sieh (Weiva); C.F. Singer (Christian); O. Sinilnikova (Olga); S. Slager (Susan); H. Song (Honglin); Soucy, P. (Penny); M.C. Southey (Melissa); M. Stenmark-Askmalm (Marie); D. Stoppa-Lyonnet (Dominique); C. Sutter (Christian); A.J. Swerdlow (Anthony ); Tchatchou, S. (Sandrine); P.J. Teixeira; S.-H. Teo; K.L. Terry (Kathryn); M.B. Terry (Mary Beth); M. Thomassen (Mads); M.G. Tibiletti (Maria Grazia); L. Tihomirova (Laima); S. Tognazzo (Silvia); A.E. Toland (Amanda); I.P. Tomlinson (Ian); D. Torres (Diana); T. Truong (Thérèse); C.-C. Tseng (Chiu-Chen); N. Tung (Nadine); Tworoger, S.S. (Shelley S.); C. Vachon (Celine); Van Den Ouweland, A.M.W. (Ans M.W.); Van Doorn, H.C. (Helena C.); E.J. van Rensburg (Elizabeth); L.J. van 't Veer (Laura); A. Vanderstichele (Adriaan); I. Vergote (Ignace); J. Vijai (Joseph); Wang, Q. (Qin); S. Wang-Gohrke (Shan); J.N. Weitzel (Jeffrey); N. Wentzensen (N.); A.S. Whittemore (Alice); H. Wildiers (Hans); R. Winqvist (Robert); A.H. Wu (Anna); Yannoukakos, D. (Drakoulis); S.-Y. Yoon (Sook-Yee); J-C. Yu (Jyh-Cherng); W. Zheng (Wei); Y. Zheng (Ying); Khanna, K.K. (Kum Kum); J. Simard (Jacques); A.N.A. Monteiro (Alvaro N.); J.D. French (Juliet); F.J. Couch (Fergus); M. Freedman (Matthew); D.F. Easton (Douglas F.); A.M. Dunning (Alison); P.D.P. Pharoah (Paul); S.L. Edwards (Stacey); G. Chenevix-Trench (Georgia); A.C. Antoniou (Antonis C.); S.A. Gayther (Simon); D. Bowtell (David); A. DeFazio (Anna); P. Webb (Penny); M.-A. Collonge-Rame; Damette, A. (Alexandre); E. Barouk-Simonet (Emmanuelle); F. Bonnet (Françoise); V. Bubien (Virginie); N. Sevenet (Nicolas); M. Longy (Michel); P. Berthet (Pascaline); D. Vaur (Dominique); L. Castera (Laurent); S.F. Ferrer; Y.-J. Bignon (Yves-Jean); N. Uhrhammer (Nancy); F. Coron (Fanny); L. Faivre (Laurence); Baurand, A. (Amandine); Jacquot, C. (Caroline); Bertolone, G. (Geoffrey); Lizard, S. (Sarab); D. Leroux (Dominique); H. Dreyfus (Hélène); C. Rebischung (Christine); Peysselon, M. (Magalie); J.-P. Peyrat; J. Fournier (Joëlle); F. Révillion (Françoise); C. Adenis (Claude); L. Vénat-Bouvet (Laurence); M. Léone (Mélanie); N. Boutry-Kryza (N.); A. Calender (Alain); S. Giraud (Sophie); C. Verny-Pierre (Carole); C. Lasset (Christine); V. Bonadona (Valérie); Barjhoux, L. (Laure); H. Sobol (Hagay); V. Bourdon (Violaine); Noguchi, T. (Tetsuro); A. Remenieras (Audrey); I. Coupier (Isabelle); P. Pujol (Pascal); J. Sokolowska (Johanna); M. Bronner (Myriam); C.D. Delnatte (Capucine); Bézieau, S. (Stéphane); Mari, V. (Véronique); M. Gauthier-Villars (Marion); B. Buecher (Bruno); E. Rouleau (Etienne); L. Golmard (Lisa); V. Moncoutier (Virginie); M. Belotti (Muriel); A. de Pauw (Antoine); Elan, C. (Camille); Fourme, E. (Emmanuelle); Birot, A.-M. (Anne-Marie); Saule, C. (Claire); Laurent, M. (Maïté); C. Houdayer (Claude); F. Lesueur (Fabienne); N. Mebirouk (Noura); F. Coulet (Florence); C. Colas (Chrystelle); F. Soubrier; Warcoin, M. (Mathilde); F. Prieur (Fabienne); M. Lebrun (Marine); C. Kientz (Caroline); D.W. Muller (Danièle); J.P. Fricker (Jean Pierre); C. Toulas (Christine); R. Guimbaud (Rosine); L. Gladieff (Laurence); V. Feillel (Viviane); I. Mortemousque (Isabelle); B. Bressac-de Paillerets (Brigitte); O. Caron (Olivier); M. Guillaud-Bataille (Marine); H. Gregory (Helen); Z. Miedzybrodzka (Zosia); P.J. Morrison (Patrick); A. Donaldson (Alan); M.T. Rogers (Mark); M.J. Kennedy (John); M.E. Porteous (Mary); A. Brady (A.); J. Barwell (Julian); Foo, C. (Claire); F. Lalloo (Fiona); L. Side (Lucy); J. Eason (Jacqueline); Henderson, A. (Alex); L.J. Walker (Lisa); J. Cook (Jackie); Snape, K. (Katie); A. Murray (Alexandra); E. McCann (Emma); M.A. Rookus (Matti); F.E. van Leeuwen (F.); L. van der Kolk (Lizet); M.K. Schmidt (Marjanka); N.S. Russell (Nicola); J.L. de Lange (J.); Wijnands, R.; J.M. Collée; M.J. Hooning (Maartje); Seynaeve, C.; C.H.M. van Deurzen (Carolien); A.I.M. Obdeijn (Inge-Marie); C.J. van Asperen (Christi); R.A.E.M. Tollenaar (Rob); T.C.T.E.F. van Cronenburg; C.M. Kets; M.G.E.M. Ausems (Margreet); C. van der Pol (Carmen); T.A.M. van Os (Theo); Q. Waisfisz (Quinten); E.J. Meijers-Heijboer (Hanne); E.B. Gómez García (Encarna); J.C. Oosterwijk (Jan); M.J. Mourits; G.H. de Bock (Geertruida); H. Vasen (Hans); Siesling, S.; Verloop, J.; L.I.H. Overbeek (Lucy); S.B. Fox (Stephen); J. Kirk (Judy); G.J. Lindeman; M. Price (Melanie)

    2016-01-01

    textabstractA locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 ×

  1. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

    Science.gov (United States)

    Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan; Ramus, Susan J; Li, Qiyuan; Delgado, Melissa K; Lee, Janet M; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K; Arver, Brita; Bandera, Elisa V; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Beckmann, Matthias W; Benitez, Javier; Berchuck, Andrew; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Blot, William; Bogdanova, Natalia; Bojesen, Anders; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Bruinsma, Fiona; Brunet, Joan; Buhari, Shaik Ahmad; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Canniotto, Rikki; Chang-Claude, Jenny; Chiquette, Jocelyne; Choi, Ji-Yeob; Claes, Kathleen B M; Cook, Linda S; Cox, Angela; Cramer, Daniel W; Cross, Simon S; Cybulski, Cezary; Czene, Kamila; Daly, Mary B; Damiola, Francesca; Dansonka-Mieszkowska, Agnieszka; Darabi, Hatef; Dennis, Joe; Devilee, Peter; Diez, Orland; Doherty, Jennifer A; Domchek, Susan M; Dorfling, Cecilia M; Dörk, Thilo; Dumont, Martine; Ehrencrona, Hans; Ejlertsen, Bent; Ellis, Steve; Engel, Christoph; Lee, Eunjung; Evans, D Gareth; Fasching, Peter A; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foretova, Lenka; Fostira, Florentia; Foulkes, William D; Fridley, Brooke L; Friedman, Eitan; Frost, Debra; Gambino, Gaetana; Ganz, Patricia A; Garber, Judy; García-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Ghoussaini, Maya; Giles, Graham G; Glasspool, Rosalind; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; González-Neira, Anna; Goode, Ellen L; Goodman, Marc T; Greene, Mark H; Gronwald, Jacek; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V O; Harrington, Patricia A; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; Heitz, Florian; Herzog, Josef; Høgdall, Estrid; Høgdall, Claus K; Hogervorst, Frans B L; Hollestelle, Antoinette; Hopper, John L; Hulick, Peter J; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jensen, Allan; John, Esther M; Johnson, Nichola; Kabisch, Maria; Kang, Daehee; Kapuscinski, Miroslav; Karlan, Beth Y; Khan, Sofia; Kiemeney, Lambertus A; Kjaer, Susanne Kruger; Knight, Julia A; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela; Kupryjanczyk, Jolanta; Kwong, Ava; de la Hoya, Miguel; Laitman, Yael; Lambrechts, Diether; Le, Nhu; De Leeneer, Kim; Lester, Jenny; Levine, Douglas A; Li, Jingmei; Lindblom, Annika; Long, Jirong; Lophatananon, Artitaya; Loud, Jennifer T; Lu, Karen; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Le Marchand, Loic; Margolin, Sara; Marme, Frederik; Massuger, Leon F A G; Matsuo, Keitaro; Mazoyer, Sylvie; McGuffog, Lesley; McLean, Catriona; McNeish, Iain; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R; Milne, Roger L; Montagna, Marco; Moysich, Kirsten B; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L; Ness, Roberta B; Neuhausen, Susan L; Nevanlinna, Heli; Nord, Silje; Nussbaum, Robert L; Odunsi, Kunle; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Olson, Janet E; Olswold, Curtis; O'Malley, David; Orlow, Irene; Orr, Nick; Osorio, Ana; Park, Sue Kyung; Pearce, Celeste L; Pejovic, Tanja; Peterlongo, Paolo; Pfeiler, Georg; Phelan, Catherine M; Poole, Elizabeth M; Pylkäs, Katri; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad Usman; Rennert, Gad; Rhenius, Valerie; Rhiem, Kerstin; Risch, Harvey A; Rodriguez, Gus; Rossing, Mary Anne; Rudolph, Anja; Salvesen, Helga B; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schildkraut, Joellen M; Schmidt, Marjanka K; Schmutzler, Rita K; Sellers, Thomas A; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Sieh, Weiva; Singer, Christian F; Sinilnikova, Olga M; Slager, Susan; Song, Honglin; Soucy, Penny; Southey, Melissa C; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Sutter, Christian; Swerdlow, Anthony; Tchatchou, Sandrine; Teixeira, Manuel R; Teo, Soo H; Terry, Kathryn L; Terry, Mary Beth; Thomassen, Mads; Tibiletti, Maria Grazia; Tihomirova, Laima; Tognazzo, Silvia; Toland, Amanda Ewart; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Tung, Nadine; Tworoger, Shelley S; Vachon, Celine; van den Ouweland, Ans M W; van Doorn, Helena C; van Rensburg, Elizabeth J; Van't Veer, Laura J; Vanderstichele, Adriaan; Vergote, Ignace; Vijai, Joseph; Wang, Qin; Wang-Gohrke, Shan; Weitzel, Jeffrey N; Wentzensen, Nicolas; Whittemore, Alice S; Wildiers, Hans; Winqvist, Robert; Wu, Anna H; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Khanna, Kum Kum; Simard, Jacques; Monteiro, Alvaro N; French, Juliet D; Couch, Fergus J; Freedman, Matthew L; Easton, Douglas F; Dunning, Alison M; Pharoah, Paul D; Edwards, Stacey L; Chenevix-Trench, Georgia; Antoniou, Antonis C; Gayther, Simon A

    2016-09-07

    A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.

  2. Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.

    Science.gov (United States)

    De Leeneer, K; Van Bockstal, M; De Brouwer, S; Swietek, N; Schietecatte, P; Sabbaghian, N; Van den Ende, J; Willocx, S; Storm, K; Blaumeiser, B; Van Asperen, C J; Wijnen, J T; Leunen, K; Legius, E; Michils, G; Matthijs, G; Blok, M J; Gomez-Garcia, E; De Paepe, A; Tischkowitz, M; Poppe, B; Claes, K

    2012-05-01

    Despite extensive analysis of the BRCA1 and BRCA2 genes, germline mutations are detected in <20% of families with a presumed genetic predisposition for breast and ovarian cancer. Recent literature reported RAD51C as a new breast cancer susceptibility gene. In this study, we report the analysis of 410 patients from 351 unrelated pedigrees. All were referred for genetic testing and we selected families with at least one reported case of ovarian cancer in which BRCA1&2 mutations were previously ruled out. We analyzed the coding exons, intron-exons boundaries, and UTRs of RAD51C. Our mutation analysis did not reveal any unequivocal deleterious mutation. In total 12 unique sequence variations were identified of which two were novel. Our study and others suggest a low prevalence of RAD51C mutations with an exception for some founder populations. This observation is in favor of the rare allele hypothesis in the debate over the nature of the genetic contribution to individual susceptibility to breast and ovarian cancer and further genome-wide studies in high risk families are warranted.

  3. Association between family cancer history and risk of pancreatic cancer.

    Science.gov (United States)

    Schulte, Annaka; Pandeya, Nirmala; Fawcett, Jonathan; Fritschi, Lin; Klein, Kerenaftali; Risch, Harvey A; Webb, Penelope M; Whiteman, David C; Neale, Rachel E

    2016-12-01

    Family history of pancreatic adenocarcinoma is an established risk factor for the disease. However, associations of pancreatic cancer with other familial cancers are less clear. We analyzed data from the Queensland Pancreatic Cancer Study (QPCS), an Australian population-based case-control study, to investigate associations between family history of various cancer types and risk of pancreatic cancer. Our study included 591 pancreatic cancer patients and 646 controls, all of whom self-reported the histories of cancer in their first-degree relatives. We used logistic regression to estimate adjusted odds ratios (ORs) and their 95% confidence intervals (CIs). Based on our results, we conducted a systematic literature review using the Medline (OVID) database to identify articles pertaining to the association between family history of melanoma and risk of pancreatic cancer. A meta-analysis including associations in five published studies, unpublished results from a study co-author and the QPCS results was then performed using the DerSimonian and Laird random-effects model. Cases were more likely than controls to report a family history of pancreatic cancer (OR 2.20, 95% CI 1.16-4.19) and melanoma (OR 1.74, 95% CI 1.03-2.95), but not of breast, ovarian, respiratory, other gastrointestinal or prostate cancer. Meta-analysis of melanoma family history and pancreatic cancer risk yielded an OR of 1.22 (95% CI 1.00-1.51). Our results yield further evidence of increased risk of pancreatic cancer in those with family histories of the disease. We also provide suggestive evidence of an association between family history of melanoma and risk of pancreatic cancer. Copyright © 2016. Published by Elsevier Ltd.

  4. Familial pancreatic cancer: Concept, management and issues

    Science.gov (United States)

    Matsubayashi, Hiroyuki; Takaori, Kyoichi; Morizane, Chigusa; Maguchi, Hiroyuki; Mizuma, Masamichi; Takahashi, Hideaki; Wada, Keita; Hosoi, Hiroko; Yachida, Shinichi; Suzuki, Masami; Usui, Risa; Furukawa, Toru; Furuse, Junji; Sato, Takamitsu; Ueno, Makoto; Kiyozumi, Yoshimi; Hijioka, Susumu; Mizuno, Nobumasa; Terashima, Takeshi; Mizumoto, Masaki; Kodama, Yuzo; Torishima, Masako; Kawaguchi, Takahisa; Ashida, Reiko; Kitano, Masayuki; Hanada, Keiji; Furukawa, Masayuki; Kawabe, Ken; Majima, Yoshiyuki; Shimosegawa, Toru

    2017-01-01

    Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion ( Caucasian) and a younger onset are common also in FPC. In European countries, “anticipation” is reported in FPC families, as with other hereditary syndromes; a trend toward younger age and worse prognosis is recognized in the late years. The resected pancreases of FPC kindred often show multiple pancreatic intraepithelial neoplasia (PanIN) foci, with various K-ras mutations, similar to colorectal polyposis seen in the FAP patients. As with HBOC patients, a patient who is a BRCA mutation carrier with unresectable pancreatic cancer (accounting for 0%-19% of FPC patients) demonstrated better outcome following platinum and Poly (ADP-ribose) polymerase inhibitor treatment. Western countries have established FPC registries since the 1990s and several surveillance projects for high-risk individuals are now ongoing to detect early PCs. Improvement in lifestyle habits, including non-smoking, is recommended for individuals at risk. In Japan, the FPC study group was initiated in 2013 and the Japanese FPC registry was established in 2014 by the Japan Pancreas Society. PMID:28246467

  5. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

    DEFF Research Database (Denmark)

    Kar, Siddhartha P; Beesley, Jonathan; Amin Al Olama, Ali

    2016-01-01

    -type-specific expression quantitative trait locus and enhancer-gene interaction annotations suggested target genes with potential cross-cancer roles at the new loci. Pathway analysis revealed significant enrichment of death receptor signaling genes near loci with P

  6. Brief Assessment of Parents’ Attitudes Toward Testing Minor Children for Hereditary Breast/Ovarian Cancer Genes: Development and Validation of the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS)

    Science.gov (United States)

    Peshkin, Beth N.; DeMarco, Tiffani A.; Garber, Judy E.; Valdimarsdottir, Heiddis B.; Patenaude, Andrea F.; Schneider, Katherine A.; Schwartz, Marc D.

    2009-01-01

    Objective Predictive genetic testing for hereditary breast/ovarian cancer risk (BRCA1/2 testing) is not recommended for minor children due to its lack of immediate medical benefit and potential psychological risk. Yet, tested mothers are often interested in learning about their children's cancer risks via pediatric BRCA1/2 testing, raising a host of bioethical concerns. However, no reliable or valid tool exists to formally gauge parents’ interest in such testing. The aim of this study was to develop and evaluate a new measure for use in genetic research and consultation, known as the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). Methods After pretest genetic counseling and provision of a blood sample for BRCA1/2 testing, the P-TAS was administered to 187 mothers of children between 8- and 21-years-old. The measure was also given to 96 of the mothers’ nontested co-parents. Analyses of the factor structure and psychometric properties of the measure were performed in mothers and confirmed in their co-parents. Results The two factors of the P-TAS, labeled Attitudes and Beliefs (Factor 1) and Decision Making and Communication (Factor 2), accounted for 62.9% of the variance and were reliable (Cronbach's coefficient αs =.70 and.90, respectively); the structure and properties were largely confirmed among co-parents. Validity was indicated through its convergence with related constructs. Conclusions This new tool may be integrated into genetic counseling research to better assess parents’ attitudes and interests in pediatric BRCA1/2 testing. Such information may help guide ongoing discussions about the appropriateness of testing in adolescent or young adult children. PMID:18385162

  7. Autoantibodies to MUC1 glycopeptides cannot be used as a screening assay for early detection of breast, ovarian, lung or pancreatic cancer

    DEFF Research Database (Denmark)

    Burford, B; Gentry-Maharaj, A; Graham, R

    2013-01-01

    Autoantibodies have been detected in sera before diagnosis of cancer leading to interest in their potential as screening/early detection biomarkers. As we have found autoantibodies to MUC1 glycopeptides to be elevated in early-stage breast cancer patients, in this study we analysed...... these autoantibodies in large population cohorts of sera taken before cancer diagnosis....

  8. Toxicity-adjusted dose (TAD) administration of chemotherapy: Effect of baseline and nadir neutrophil count in patients with breast, ovarian, and lung cancer?

    DEFF Research Database (Denmark)

    Carus, Andreas; Donskov, Frede; Gebski, Val

    2011-01-01

    months. In contrast, median survival for ovarian cancer patients who had nadir neutropenia above 2.0 was 27 months. In a multivariate analysis, adjusting for well-known prognostic features, nadir neutropenia below 2.0 was statistically significant (HR 1.73;p=0.03). In patients with NSCLC, baseline......Background: In some solid cancers a survival benefit has been observed for patients who had chemotherapy-induced neutropenia. The prognostic impact of baseline and nadir blood neutrophils was assessed in the present study. Methods: Data on patients with breast cancer st.I-IV, ovarian cancer st.......Survival data were updated 2010. Results: A total of 819 patients were identified, comprising 507 patients with breast cancer, 118 patients with ovarian cancer, 115 patients with NSCLC and 79 patients with SCLC. Median survival for ovarian cancer patients obtaining nadir neutropenia below 2.0 x 109/l was 56...

  9. Trends in breast, ovarian and cervical cancer incidence in Mumbai, India over a 30-year period, 1976-2005: an age-period-cohort analysis.

    Science.gov (United States)

    Dhillon, P K; Yeole, B B; Dikshit, R; Kurkure, A P; Bray, F

    2011-08-23

    Demographic, socioeconomic and cultural changes in India have increased longevity, delayed childbearing, decreased parity and resulted in a more westernised lifestyle, contributing to the increasing burden of cancer, especially among women. We evaluated secular changes in the incidence of breast, cervical and ovarian cancer in Mumbai women aged 30-64 between 1976 and 2005. Age-standardised incidence rates were calculated and presented by site and calendar period. An age-period-cohort (APC) analysis quantified recent time trends and the significance of birth cohort and calendar period effects. The estimated annual percent change (EAPC) was obtained from the drift parameter, expressing the linear time trend common to both calendar period and birth cohort. Over the 30-year study period, the age-standardised rates significantly increased for breast cancer (EAPC: 1.1% (95% confidence interval (CI): 1.0, 1.3)), significantly decreased for cervical cancer (EAPC: -1.8% (95% CI: -2.0, -1.6)) and there was no statistically significant change for ovarian cancer (EAPC: 0.3% (95% CI: -0.1, 0.6)). For breast and cervical cancer, the best-fitting model was the APC model. The rates of breast, cervical and ovarian cancer remain low in comparison with western countries, and the divergent trends of breast (increasing) and cervical cancer (decreasing) in Mumbai were similar to those observed in several other Asian countries. The changing risk profile in successive generations - improved education, higher socioeconomic status, later age at marriage and at first child, and lower parity - may in combination partially explain the diverging generational changes in breast and cervical cancer in Mumbai in the last decades.

  10. Analysis of BRCA1 involvement in breast cancer in Indian women

    Indian Academy of Sciences (India)

    The involvement of the familial breast-ovarian cancer gene (BRCA1) in the molecular pathogenesis of breast cancer among Indian women is unknown. We have used a set of microsatellite polymorphisms to examine the frequency of allele loss at the BRCA1 region on chromosome 17q21, in a panel of 80 human breast ...

  11. Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventions.

    Science.gov (United States)

    Koehly, Laura M; Peters, June A; Kenen, Regina; Hoskins, Lindsey M; Ersig, Anne L; Kuhn, Natalia R; Loud, Jennifer T; Greene, Mark H

    2009-12-01

    Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blockers of health information within families at high genetic risk of cancer. A total of 5466 personal network members of 183 female participants of the Breast Imaging Study from 124 families with known mutations in the BRCA1/2 genes (associated with high risk of breast, ovarian, and other types of cancer) were identified by using the Colored Eco-Genetic Relationship Map (CEGRM). Hierarchical nonlinear models were fitted to characterize information gatherers, disseminators, and blockers. Gatherers of information were more often female (Pfamily members in the older or same generation as the participant (Pfamily members may, within a family-based intervention, effectively gather family risk information, disseminate information, and encourage discussions regarding shared family risk.

  12. Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.

    Science.gov (United States)

    De Leeneer, Kim; Coene, Ilse; Crombez, Brecht; Simkens, Justine; Van den Broecke, Rudy; Bols, Alain; Stragier, Barbara; Vanhoutte, Ilse; De Paepe, Anne; Poppe, Bruce; Claes, Kathleen

    2012-02-01

    In order to adequately evaluate the clinical relevance of genetic testing in sporadic breast and ovarian cancer patients, we offered comprehensive BRCA1/2 mutation analysis in patients without a family history for the disease. We evaluated the complete coding and splice site regions of BRCA1/2 in 193 sporadic patients. In addition, a de novo mutation was further investigated with ultra deep sequencing and microsatellite marker analysis. In 17 patients (8.8%), a deleterious germline BRCA1/2 mutation was identified. The highest mutation detection ratio (3/7 = 42.9%) was obtained in sporadic patients diagnosed with breast and ovarian cancer after the age of 40. In 21 bilateral breast cancer patients, two mutations were identified (9.5%). Furthermore, 140 sporadic patients with unilateral breast cancer were investigated. Mutations were only identified in patients diagnosed with breast cancer before the age of 40 (12/128 = 9.4% vs. 0/12 with Dx > 40). No mutations were detected in 17 sporadic male breast cancer and 6 ovarian cancer patients. BRCA1 c.3494_3495delTT was identified in a patient diagnosed with breast and ovarian cancer at the age of 52 and 53, respectively, and was proven to have occurred de novo at the paternal allele. Our study shows that the mutation detection probability in specific patient subsets can be significant, therefore mutation analysis should be considered in sporadic patients. As a consequence, a family history for the disease and an early age of onset should not be used as the only criteria for mutation analysis of BRCA1/2. The relatively high mutation detection ratio suggests that the prevalence of BRCA1/2 may be underestimated, especially in sporadic patients who developed breast and ovarian cancer. In addition, although rare, the possibility of a de novo occurrence in a sporadic patient should be considered.

  13. Familial pancreatic cancer and hereditary syndromes: screening strategy for high-risk individuals.

    Science.gov (United States)

    Matsubayashi, Hiroyuki

    2011-11-01

    Globally, and almost evenly across nations, a familial disposition can be found in 4-10% of patients with pancreatic cancer (PC). A family history of PC is a risk for this disease and the risk level changes in correlation with the number of affected relatives. Several hereditary syndromes with potential germline mutation also have a high risk for PC; however, little is yet known regarding the genes responsible for familial pancreatic cancer (FPC). Characteristics of FPC cases are similar to those of other familial tumors, including younger onset than in sporadic cases and an ethnic difference (Ashkenazi Jewish > other Caucasian). Other risks resemble those of sporadic cases and include smoking and diabetes mellitus. People with several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, breast-ovarian cancer syndrome, hereditary nonpolyposis colorectal cancer, and familial adenomatous polyposis also have an increased risk of PC. In many countries, but not yet in Japan, screening of these high-risk individuals is now ongoing for the detection of early PC under established familial pancreatic cancer registries. In addition to the ordinary risk factors, such as smoking, diabetes, pancreatitis, cysts, duct ectasia, and intraductal papillary mucinous neoplasm (IPMN), individuals with a family history of PC and hereditary syndromes are expected to be entered into the screening protocol.

  14. Screening of BRCA1/2 Mutations Using Direct Sequencing in Indonesian Familial Breast Cancer Cases.

    Science.gov (United States)

    Anwar, Sumadi Lukman; Haryono, Samuel J; Aryandono, Teguh; Datasena, I Gusti Bagus

    2016-01-01

    Breast cancer has emerged as the most prevalent cancer among women worldwide, including in Indonesia. The contribution of genes associated with high-risk breast-ovarian cancers, BRCA1 and BRCA2, in the Indonesian population is relatively unknown. We have characterized family history of patients with moderate- to high-risk of breast cancer predisposition in 26 unrelated cases from Indonesia for BRCA1/2 mutation analyses using direct sequencing. Known deleterious mutations were not found in either BRCA1 or BRCA2 genes. Seven variants in BRCA2 were documented in 10 of 26 patients (38%). All variants were categorized as unclassified (VUSs). Two synonymous variants, c.3623A>G and c.4035T>C, were found in 5 patients. One variant, c4600T>C, was found in a 38 year old woman with a family history of breast cancer. We have found 4 novel variants in BRCA2 gene including c.6718C>G, c.3281A>G, c.10176C>G, and c4490T>C in 4 unrelated patients, all of them having a positive family history of breast cancer. In accordance to other studies in Asian population, our study showed more frequent variants in BRCA2 compared to BRCA1. Further studies involving larger numbers of hereditary breast cancer patients are required to reveal contribution of BRCA1/2 mutations and/or other predisposing genes among familial breast cancer patients in Indonesia.

  15. Family history and BRCA1/BRCA2 status among Japanese ovarian cancer patients and occult cancer in a BRCA1 mutant case.

    Science.gov (United States)

    Hirasawa, Akira; Masuda, Kenta; Akahane, Tomoko; Ueki, Arisa; Yokota, Megumi; Tsuruta, Tomohiko; Nomura, Hiroyuki; Kataoka, Fumio; Tominaga, Eiichiro; Banno, Kouji; Makita, Kazuya; Susumu, Nobuyuki; Sugano, Kokichi; Kosaki, Kenjiro; Kameyama, Kaori; Aoki, Daisuke

    2014-01-01

    This study aimed to examine family history among Japanese ovarian cancer patients and to investigate the TP53 status of fallopian tube epithelial and ovarian cancer cells in a Japanese BRCA1 mutant case that may be associated with the transformed state in hereditary ovarian cancer. One hundred and two primary ovarian cancer patients were retrospectively evaluated in this cross-sectional study. The family history of cancer was determined in probands. In a BRCA1 mutant case, p53 immunostaining and direct sequencing, followed by laser-capture microdissection, were performed for the fallopian tube, considered the origin of ovarian cancer. Nine of 102 (8.8%) families were regarded as having hereditary breast-ovarian cancer syndrome, two families (2.0%) were diagnosed with Lynch syndrome and six patients harbored BRCA1 or BRCA2 mutations. One case underwent risk-reductive salpingo-oophorectomy as a BRCA1 mutant carrier was retrospectively diagnosed as occult cancer. Common TP53 mutations were detected in cancer and fallopian tube epithelial cells in the case. Here, we integrate family cancer history and histology in ovarian cancer cases as well as TP53 status in a BRCA1 mutant case into a discussion regarding carcinogenesis in a Japanese population. The TP53 status for the BRCA1 mutant case examined here supports the recently proposed theory that ovarian cancer develops because of BRCA1 or BRCA2 inactivation and/or TP53 mutations.

  16. Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility.

    Science.gov (United States)

    Osorio, Ana; Barroso, Alicia; García, Maria J; Martínez-Delgado, Beatriz; Urioste, Miguel; Benítez, Javier

    2009-01-01

    RAP80 and CCDC98 have arisen as new candidate breast cancer susceptibility genes, since they encode for two very recently identified BRCA1 interacting proteins. In this study we have performed the first mutational analysis of both genes in 168 multiple-case breast/ovarian cancer families, negative for mutations in BRCA1 or BRCA2. We have not found truncating mutations in any of the genes and only two missense variants, p.Tyr564His in RAP80, and p.Met299Ile in CCDC98 were found that could be suspected to have a pathogenic effect, although further analyses suggested that they were probably non deleterious. Our analysis suggests that RAP80 and CCDC98 do not play an important role as high penetrance breast cancer susceptibility genes.

  17. Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel.

    Science.gov (United States)

    Zidan, Jamal; Zhou, Alicia Y; van den Akker, Jeroen; Laitman, Yael; Schayek, Hagit; Schnaider, Julia; Friedman, Eitan

    2017-08-21

    The contribution of genetic factors to cancer in non-Jewish populations in Israel is understudied. Yet the early, mostly premenopausal age at breast cancer diagnosis is suggestive of an inherited predisposition. High-risk cancer cases of non-Jewish origin who were counseled at the Oncogenetics unit, Sheba Medical Center and the oncology institute at the Ziv medical center from January 1, 2000 to December 31 2016 were eligible. DNA extracted from leukocytes was subjected to massive parallel, next-generation sequencing using the Color Genomics platform. Data were analyzed for pathogenic and likely pathogenic mutations using existing pipelines. Overall, 68 cases, each representing a unique high-risk breast/ovarian family, were genotyped: 32 Druze, 26 Muslim Arabs, and 10 Christian Arabs. Fifty-nine had breast cancer (mean age at diagnosis 42.7 ± 7.6 years), and 9 had ovarian cancer (51.6 ± 9.7 years). Overall three pathogenic mutations one each in BRCA1, PALB2, and BRIP1 genes were detected mostly in Druze families. In addition, 29 variants of unknown significance were also detected, and in 36 cases no sequence variants were noted in any of the genotyped genes. The contribution of the known cancer susceptibility genes to the burden of inherited breast/ovarian cancer predisposition in non-Jews in Israel is modest. Other genes or molecular mechanisms account for the familial breast/ovarian cancer clustering in this population.

  18. Familial gastric cancer

    Directory of Open Access Journals (Sweden)

    Bresciani Cláudio

    2003-01-01

    Full Text Available BACKGROUND: Familial aggregation of gastric cancer has pointed out to a possible hereditary and genetic factor involved in the carcinogenesis of this disease. The diffuse type gastric cancer patients are frequently younger and the tumor has locally infiltrative growth pattern early in its development. Observation of families with frequent early onset gastric cancer has led to the identification of a novel gene implicated in gastric cancer susceptibility: CDH1/E-cadherin. Diffuse familiar gastric cancer is defined as any family presenting: two first-degree relatives with diffuse gastric cancer, one of them with age under 50 years or at least 3 first-degree relatives irrespective age of onset. CASE REPORT: The family reported by us does not fit in any of the classification proposed. The precise identification of these families by clinical and molecular tools is of great importance. The case reported is an example of a family that probably is a form of hereditary gastric cancer not yet fully understood. CONCLUSION: Soon there will be new criteria, possibly including genetic and molecular characteristics.

  19. Familial pancreatic cancer

    NARCIS (Netherlands)

    Hruban, R. H.; Petersen, G. M.; Goggins, M.; Tersmette, A. C.; Offerhaus, G. J.; Falatko, F.; Yeo, C. J.; Kern, S. E.

    1999-01-01

    For many years anecdotal case reports have suggested that pancreatic cancer aggregates in some families. Two recent advances have established that this is in fact the case. First, large registries, such as the National Familial Pancreas Tumor Registry (NFPTR) at Johns Hopkins, have identified a

  20. Familial risk for lung cancer

    OpenAIRE

    Kanwal, Madiha; Ding, Xiao-Ji; Cao, Yi

    2016-01-01

    Lung cancer, which has a low survival rate, is a leading cause of cancer-associated mortality worldwide. Smoking and air pollution are the major causes of lung cancer; however, numerous studies have demonstrated that genetic factors also contribute to the development of lung cancer. A family history of lung cancer increases the risk for the disease in both smokers and never-smokers. This review focuses on familial lung cancer, in particular on the familial aggregation of lung cancer. The deve...

  1. Germline BRCA1 mutations in patients from 84 families with breast and/or ovarian cancers in northern France.

    Science.gov (United States)

    Peyrat, J P; Vennin, P; Hornez, L; Fournier, J; Adenis, C; Bonneterre, J

    1998-02-01

    The BRCA1 gene modification is responsible for an autosomal dominant syndrome of inherited early onset breast and/or ovarian cancer. This gene is estimated to account for almost half of inherited breast cancers and three quarters of inherited breast/ovarian cancers. This suggests that about 1 in every 500 women may carry the BRCA1 mutation. The BRCA1 was isolated by positional cloning in 1994. More than 100 different mutations have been found in the germline of affected individuals. Using systematic sequencing, we looked at BRCA1 germline mutations in 84 patients treated at the Centre Oscar Lambret for breast and/or ovarian cancer who belonged to high-risk families. We found 39 mutations: 22 true mutations inducing modifications of the BRCA1 protein (BRCA1+), six mutations with unknown consequences on the BRCA1 protein, and eleven mutations corresponding to polymorphisms that had been described previously. All the BRCA1+ cases had a HPG3 tumour. The median age of discovery and the receptor positivity percentage are lower in hereditary breast cancer than in the standard population of the breast cancers treated in our centre. Conversely, most of the BRCA1+ patients are without node involvement. This shows that BRCA1 mutations are not always related to parameters thought to indicate a bad prognosis.

  2. Colorectal cancer family history assessment.

    Science.gov (United States)

    Kelly, Patricia Paul

    2011-10-01

    This article describes family history assessment for colorectal cancer in three outpatient gastroenterology units and examines gastroenterology unit nurses' knowledge and attitudes about family history assessments. Eighty-eight colonoscopy records were surveyed, and 16 RNs were interviewed. The medical record documentation was surveyed using a researcher-developed tool to identify type of cancer, age at disease onset, family relationship, and number of family members with cancer. Gastroenterology unit nurses were interviewed to assess knowledge and attitudes about family history assessment regarding colorectal cancer. Findings indicate that limited family history documentation was present in the medical record and that important age-at-disease-onset information was missing in 95% of patients with a family history of colorectal cancer and in 85% of patients with a family history of Lynch syndrome-associated cancers. No documentation was found in any charts about the number of affected relatives within the same family. Inconsistencies in family history documentation within the same medical record were noted, and family history information was found in multiple chart forms. Gastroenterology nurses rated family history as very important but gave a lower rating to personal knowledge about and resources for family history assessment.

  3. [Lung cancer and family history of cancer].

    Science.gov (United States)

    Ergün, Dilek; Savaş, Ismail; Ergün, Recai; Kaya, Akin; Gülhan, Meral

    2009-01-01

    There are many studies supporting the family history in lung cancer. The study included 213 subjects with new and former diagnoses of lung cancer. Patients were enrolled from the Department of Chest Diseases Ankara University Faculty of Medicine and Atatürk Chest Diseases and Chest Surgery Training and Research Hospital between January-June 2005. For the control group, 200 healthy subjects were gathered. We aimed to investigate the family predisposition for lung and other cancers, additionally the relationship of this predisposition to age, gender, smoking habits and cell types. The number of first degree relatives of patients and control group were 2058 and 2045, respectively. In conclusion, positive family history for cancer estimated in 38% of 213 individuals with lung cancer. In these individuals, 41.9% had lung cancer, 19% had gastrointestinal system cancer, 7.6% had breast cancer, 5.7% had prostate cancer, 25.7% had other system cancers (larinx, skin, bone, hematologic system, central nervous system). Besides, 4.6% of 213 patients had accompanying other system cancers (urinary bladder, kidney, lung, head-neck). In control group, positive family history for the cancer was 21.5% and this was statistically significant (pgenetical transition hypothesis. The presence of head-neck, bladder, prostate, lung and kidney cancers in the history of the patients increase the risk of lung cancer, supporting the genetic transition.

  4. Breast and Colon Cancer Family Registries

    Science.gov (United States)

    The Breast Cancer Family Registry and the Colon Cancer Family Registry were established by the National Cancer Institute as a resource for investigators to use in conducting studies on the genetics and molecular epidemiology of breast and colon cancer.

  5. [Germ-line mutation of BRCA1 in patients with breast and/or ovarian cancer in high risk families in Northern France].

    Science.gov (United States)

    Peyrat, J P; Vennin, P; Hornez, L; Bonneterre, J

    1997-01-01

    The BRCA1 gene modification is responsible for an autosomal dominant syndrome of inherited early onset breast and/or ovarian cancer. This gene is estimated to account for almost half of inherited breast cancers and three quarters of inherited breast/ovarian cancers. This suggests that about 1 out of 500 women may carry BRCA1 mutation. The BRCA1 gene was isolated by positional cloning in 1994. More than 100 different mutations have been found in the germline of affected individuals. We looked by systematic sequencing at BRCA1 germline mutations in 36 patients treated at the Centre Oscar-Lambret for breast and/or ovarian cancer and that belonged to high risk families. We have found 24 mutations: 9 true mutations inducing modifications of the BRCA1 protein (BRCA1+), 5 mutations with unknown consequences on the BRCA1 protein and 10 mutations corresponding to polymorphisms that had been previously described. All the BRCA1+ cases had a HPG3 tumor. The median age of discovery and the receptor positivity percentage are lower in hereditary breast cancer than in the standard population of the breast cancers treated in our center. Consequently, BRCA1 mutations are associated to parameters thought to be of bad prognosis.

  6. Family Caregivers in Cancer (PDQ)

    Science.gov (United States)

    ... chosen to help where the caregiver needs it. Education and Information Coping Skills Counseling Family Meetings Home Care Help Hospice Care for the Cancer Patient Caregivers have a very hard job and it's ...

  7. Familial colorectal cancer type X

    DEFF Research Database (Denmark)

    Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina

    2015-01-01

    Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologi...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention.......Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic...

  8. Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect.

    Science.gov (United States)

    Evers, Christina; Fischer, Christine; Dikow, Nicola; Schott, Sarah

    2017-01-01

    The German Consortium for hereditary breast/ovarian cancer (GC-HBOC) aims for nationwide access to professional, individualized yet structured care for families at high risk. The identification of such families remains key for optimal care. Our study evaluates counselees' characteristics, referral practices, expectations and motivations in respect to their first genetic consultation. The impact of the Angelina Jolie Effect (AJE) was prospectively assessed. All counselees could participate through a questionnaire. Groups were built in respect to neoadjuvant chemotherapy (FT) and before/after AJE. The 917 (88.5%) counselees (FT: 8.2%) were on average female (97.3%), with a mean age of 44.6, had children (71.9%), higher education (88%), personal (46.4%) or at least one first-degree relative (74.6%) with BC/OC or known BRCA1/2 mutation (11.8%), were in a relationship (76.1%), and living in a village (40.7%). The AJE is associated with significantly fewer cancelations (p = 0.005), more attendance among men (4.2% vs. 0.8%, p = 0.002), and people with familial BRCA1/2 (14.8% vs. 7.5%, p = 0.003). The majority seek information regarding their cancer risk (83%) or relatives' risk (74.8%), HBOC (69.1%), and surveillance programs for themselves (66.6%) or relatives (60.6%). Enhanced media awareness of genetic cancer motivates patients, including other patient groups. A higher number of participants, including more men, are attending GC due to the AJE. In terms of the rising complexity of genetic testing, the analysis of patients' expectations and initiators for GC suggests that there is an urgent need to develop to participate motivation analysis. The factors revealed as impediments to accessing GC-HBOC guide recommendations to optimize access to genetic counseling. Medical educational programs for primary gynecologists and families at risk might be options to reach more participants.

  9. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil

    Directory of Open Access Journals (Sweden)

    Edenir Inêz Palmero

    2016-01-01

    Full Text Available Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA. If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening, respectively, and 7 for CHEK2 1100delC testing. A deleterious BRCA2 mutation was identified in one of the HBOC probands and the CHEK2 1100delC mutation occurred in one of the HBCC families. No deleterious germline alterations were identified in BRCA1 or TP53. Although strict inclusion criteria and a comprehensive testing approach were used, the suspected genetic risk in these families remains unexplained. Further studies in a larger cohort are necessary to better understand the genetic component of hereditary breast cancer in Southern Brazil.

  10. [Hereditary and familial colorectal cancer].

    Science.gov (United States)

    Balaguer, Francesc

    2014-09-01

    Up to 5% of all colorectal cancer cases are caused by a known hereditary syndrome. These hereditary types often need a higher degree of clinical suspicion to be diagnosed and require specific and specialized management. In addition, diagnosing hereditary colorectal cancer has significant consequences not only for the patient, for whom there are effective preventative measures, but also for their families, who could be carriers of the condition. The most significant advances in the field of colorectal cancer have come from the diagnosis and characterization of these syndromes. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  11. A Pilot study of the Sharing Risk Information Tool (ShaRIT) for Families with Hereditary Breast and Ovarian Cancer Syndrome

    Science.gov (United States)

    2012-01-01

    Background Individuals who carry deleterious BRCA mutations face significantly elevated risks of breast, ovarian, and other cancers. These individuals are also responsible for informing relatives of their increased risk for carrying the family BRCA mutation. Few interventions have been developed to facilitate this family communication process. Methods We developed the Sharing Risk Information Tool (ShaRIT), a personalized educational intervention, to support BRCA carriers as they discuss BRCA positive results and their implications with relatives. We conducted a pilot study of 19 BRCA carriers identified through the University of California San Francisco Cancer Risk Program. Our study had two aims: 1) to assess the feasibility and acceptability of ShaRIT, and 2) describe characteristics associated with increased family communication and BRCA testing. Participants in our study were divided into two groups: those who had not received ShaRIT as part of their genetic counseling protocol (control group, n = 10) and those who received ShaRIT (n = 9). Results All 9 women who received ShaRIT reported that it was a useful resource. Characteristics associated with increased sharing and testing included: female gender, degree of relationship, and frequency of communication. Increased pedigree knowledge showed a trend toward higher rates of sharing. Conclusions Both participants and genetic counselors considered ShaRIT a well-received, comprehensive tool for disseminating individual risk information and clinical care guidelines to Hereditary Breast and Ovarian Cancer Syndrome families. Because of this, ShaRIT has been incorporated as standard of care at our institution. In the future we hope to evaluate the effects of ShaRIT on family communication and family testing in larger populations of BRCA positive families. PMID:22494806

  12. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence

    Directory of Open Access Journals (Sweden)

    Ihab Shafek Atta

    2016-01-01

    Full Text Available We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner’s, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A.

  13. Genetic heterogeneity in breast cancer susceptibility.

    Science.gov (United States)

    Andersen, T I

    1996-01-01

    Approximately 20% of breast cancer patients have a family history of the disease, and in one-fourth of these cases breast cancer appears to be inherited as an autosomally dominant trait. Five genes and gene regions involved in breast cancer susceptibility have been uncovered. Germ-line mutations in the recently cloned BRCA1 gene at 17q21 is considered to be responsible for the disease in a majority of the breast-ovarian cancer families and in 40-45% of the site-specific breast cancer families, but appears not to be involved in families with both male and female breast cancer cases. The BRCA2 locus at 13q12-q13 appears to be involved in 40-45% of the site-specific breast cancer families, and in most of the families with affected males. The gene located in this region, however, does not seem to confer susceptibility to ovarian cancer. The TP53 gene is involved in breast cancer development in the Li-Fraumeni syndrome and Li-Fraumeni syndrom-like families, whereas germ-line mutations in the androgen receptor (AR) gene is present in a subset of male breast cancers. Furthermore, females who are obligate carriers of ataxia telangiectasia (AT) have a 4-12 times relative risk of developing breast cancer as compared with the general female population, indicating that germ-line mutations in AT also confer susceptibility to breast cancer.

  14. Familial Colorectal Cancer: Understanding the Alphabet Soup.

    Science.gov (United States)

    Giglia, Matthew D; Chu, Daniel I

    2016-09-01

    While most colorectal cancers (CRCs) originate from nonhereditary spontaneous mutations, one-third of cases are familial or hereditary. Hereditary CRCs, which account for alphabet soup of genes to provide the highest quality of care for patients and families.

  15. Helping families of patients with cancer.

    Science.gov (United States)

    Northouse, Laurel

    2005-07-01

    To discuss the impact of cancer on families of patients with cancer. National reports on caregiving and research articles related to cancer and families. Family caregivers are the bedrock of chronic care in the United States. They provide an enormous amount of unpaid care that is often invisible. Cancer can affect the emotional, social, physical, and spiritual well-being of family members. Family intervention research can have a positive effect on patient and family caregiver outcomes. More intervention research with families is needed that is theoretically based, uses randomized clinical trial designs, and uses instruments that are sensitive to intervention effects. Although family intervention research is limited, descriptive and exploratory research has identified protective factors and risk factors that need to be addressed in clinical practice.

  16. Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect.

    Directory of Open Access Journals (Sweden)

    Christina Evers

    Full Text Available The German Consortium for hereditary breast/ovarian cancer (GC-HBOC aims for nationwide access to professional, individualized yet structured care for families at high risk. The identification of such families remains key for optimal care. Our study evaluates counselees' characteristics, referral practices, expectations and motivations in respect to their first genetic consultation. The impact of the Angelina Jolie Effect (AJE was prospectively assessed.All counselees could participate through a questionnaire. Groups were built in respect to neoadjuvant chemotherapy (FT and before/after AJE.The 917 (88.5% counselees (FT: 8.2% were on average female (97.3%, with a mean age of 44.6, had children (71.9%, higher education (88%, personal (46.4% or at least one first-degree relative (74.6% with BC/OC or known BRCA1/2 mutation (11.8%, were in a relationship (76.1%, and living in a village (40.7%. The AJE is associated with significantly fewer cancelations (p = 0.005, more attendance among men (4.2% vs. 0.8%, p = 0.002, and people with familial BRCA1/2 (14.8% vs. 7.5%, p = 0.003. The majority seek information regarding their cancer risk (83% or relatives' risk (74.8%, HBOC (69.1%, and surveillance programs for themselves (66.6% or relatives (60.6%.Enhanced media awareness of genetic cancer motivates patients, including other patient groups. A higher number of participants, including more men, are attending GC due to the AJE. In terms of the rising complexity of genetic testing, the analysis of patients' expectations and initiators for GC suggests that there is an urgent need to develop to participate motivation analysis. The factors revealed as impediments to accessing GC-HBOC guide recommendations to optimize access to genetic counseling. Medical educational programs for primary gynecologists and families at risk might be options to reach more participants.

  17. Familial cancer in an oncology clinic.

    Science.gov (United States)

    Albano, W A; Lynch, H T; Recabaren, J A; Organ, C H; Mailliard, J A; Black, L E; Follett, K L; Lynch, J

    1981-05-01

    Knowledge of cancer genetics provides the physician with a powerful tool for the recognition of patients who might profit from highly targeted cancer surveillance/management programs. Family history was evaluated by registered nurses on 565 consecutively ascertained patients with verified cancer from Creighton's Oncology Clinic. This initial assessment yielded 199 (35.5%) families with two more family members with cancer (all sites) within an informative nuclear component, which constituted parents, grandparents, aunts/uncles, siblings, and children. One or more of the operational criteria for cancer familiality, namely vertical transmission of cancer, bilaterality, and/or multiple primaries, early age of onset, and three or more site specific cancers, were found on physician review in 171 (30.5%) of the families. This group was referred for comprehensive cancer genetic evaluation consisting of pedigree extension and tumor verification through all second degree, and when possible, third degree relatives. It was determined that approximately 4% of the total clinic population demonstrated findings compatible with hereditary cancer syndromes. Its universal extension in clinical practice is advocated because of the potential yield from meticulous surveillance for cancer of highly targeted organs in such high-risk kindreds, as well as the economy and general case of obtaining detailed family history by registered nurses. The physician is able, therefore, to devote his primary effort toward pedigree analysis and syndrome identification.

  18. Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds

    NARCIS (Netherlands)

    Klein, Alison P.; Brune, Kieran A.; Petersen, Gloria M.; Goggins, Michael; Tersmette, Anne C.; Offerhaus, G. Johan A.; Griffin, Constance; Cameron, John L.; Yeo, Charles J.; Kern, Scott; Hruban, Ralph H.

    2004-01-01

    Individuals with a family history of pancreatic cancer have an increased risk of developing pancreatic cancer. Quantification of this risk provides a rational basis for cancer risk counseling and for screening for early pancreatic cancer. In a prospective registry-based study, we estimated the risk

  19. WHO HAS TO UNDERGO CANCER GENETIC TESTING? A PERSPECTIVE.

    Directory of Open Access Journals (Sweden)

    Carmen Rinaldi

    2017-10-01

    Full Text Available Genetic testing is a medical tool employed to screen changes in genes linked to cancer and other genetic diseases. Genetic tests are available for breast, ovarian, colon, thyroid, and some other cancers and they represent the main tool for early identification of the “risk” subjects. The choice to undergo genetic testing by a healthy or affected cancer patient with family history of the cancer has to be the fruit of a careful and prudent assessment of the advantages and disadvantages discussed during oncogenetic counselling. The latter, in turn, in the case of a patient's positive and informed choice, must constantly affiliate the genetic testing, in order to preserve the prediction and information role of the test as much as possible.

  20. 76 FR 16431 - National Cancer Institute; Notice of Closed Meeting

    Science.gov (United States)

    2011-03-23

    ... Committee: National Cancer Institute Special Emphasis Panel; SPORE in Lymphoma, Breast, Ovarian..., Cancer Centers Support; 93.398, Cancer Research Manpower; 93.399, Cancer Control, National Institutes of... HUMAN SERVICES National Institutes of Health National Cancer Institute; Notice of Closed Meeting...

  1. Hereditary & familial colorectal cancer : Identification, characteristics, surveillance

    NARCIS (Netherlands)

    Kallenberg, F.G.J.

    2017-01-01

    Of all colorectal cancer (CRC) cases, 15-20% is related to familial or hereditary factors. Diagnosing familial and hereditary CRC syndromes is important for several reasons. One of these is that surveillance colonoscopies can reduce CRC incidence and mortality importantly. A complete family history

  2. Family Ties: The Role of Family Context in Family Health History Communication About Cancer.

    Science.gov (United States)

    Rodríguez, Vivian M; Corona, Rosalie; Bodurtha, Joann N; Quillin, John M

    2016-01-01

    Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions.

  3. Family Ties: The Role of Family Context in Family Health History Communication about Cancer

    Science.gov (United States)

    Rodríguez, Vivian M.; Corona, Rosalie; Bodurtha, Joann N.; Quillin, John M.

    2016-01-01

    Family health history about cancer is an important prevention and health promotion tool. Yet, few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. Average age was 34 years, 59% identified as Black, 31% graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that, in turn, inform cancer prevention interventions. PMID:26735646

  4. Ownership of Uncertainty: Health Care Professionals counselling and treating women from hereditary breast and ovarian cancer families who receive an inconclusive BRCA1/2 genetic test result

    Science.gov (United States)

    Kenen, Regina; Ardern-Jones, Audrey; Lynch, Elly; Eeles, Rosalind

    2011-01-01

    AIM To understand more fully how health care professionals deal with the uncertainty intrinsic in counselling and treating women from hereditary breast/ovarian cancer(HBOC) families who receive inconclusive BRCA1/2 genetic test results (genetic tests which do not find a mutation to account for the family history). METHODS We conducted a small, qualitative, exploratory study using open -ended semi structured interviews of 12 geneticists, genetic counsellor/nurses, oncologists, gynaecologists and breast surgeons at a major UK cancer centre. We asked questions about; how these professionals dealt with the large amount of uncertainty raised by an inconclusive result, communicated the uncertainty involved and their feelings about presenting medical management options based on information fraught with uncertainty, the role of the media, differences in perspectives by specialty and personal feelings about the uncertainty. RESULTS Based on themes generated by the data, we proposed the concept “Ownership of Uncertainty” (sole, shared, diffused, normalised, transferred) to explain how the professionals in this study dealt with this high degree of uncertainty. A shared ownership of uncertainty was the dominant model during the presentation of information given by the professionals as part of their consultation with their patients. However, the final decision for management was left primarily to the woman seeking advice; even though several of the professionals reported feeling uneasy about this. CONCLUSION The concept “Ownership of Uncertainty helps advance the understanding of how health care professionals deal with the uncertainty intrinsic to an inconclusive BRCA1/2 genetic test result within the current social context. PMID:21254913

  5. Ownership of uncertainty: healthcare professionals counseling and treating women from hereditary breast and ovarian cancer families who receive an inconclusive BRCA1/2 genetic test result.

    Science.gov (United States)

    Kenen, Regina; Ardern-Jones, Audrey; Lynch, Elly; Eeles, Rosalind

    2011-04-01

    The aim of this study was to understand more fully how healthcare professionals deal with the uncertainty intrinsic in counseling and treating women from hereditary breast/ovarian cancer families who receive inconclusive BRCA1/2 genetic test results (genetic tests that do not find a mutation to account for the family history). We conducted a small, qualitative, exploratory study using open-ended semistructured interviews of 12 geneticists, genetic counselor/nurses, oncologists, gynecologists, and breast surgeons at a major UK cancer center. We asked questions about how these professionals dealt with the large amount of uncertainty raised by an inconclusive result, how they communicated the uncertainty involved, their feelings about presenting medical management options based on information fraught with uncertainty, the role of the media, differences in perspectives by specialty, and personal feelings about the uncertainty. Based on themes generated by the data, we proposed the concept "ownership of uncertainty" (sole, shared, diffused, normalized, transferred) to explain how the professionals in this study dealt with this high degree of uncertainty. A shared ownership of uncertainty was the dominant model during the presentation of information given by the professionals as part of their consultation with their patients. However, the final decision for management was left primarily to the woman seeking advice, even though several of the professionals reported feeling uneasy about this. The concept "ownership of uncertainty" helps advance the understanding of how the healthcare professionals deal with the uncertainty intrinsic to an inconclusive BRCA1/2 genetic test result within the current social context.

  6. Genetic Screening for Familial Gastric Cancer

    Directory of Open Access Journals (Sweden)

    Oliveira Carla

    2004-05-01

    Full Text Available Abstract Approximately 10% of gastric cancer cases show familial clustering but only 1-3% of gastric carcinomas arise as a result of inherited gastric cancer predisposition syndromes. Direct proof that Hereditary Gastric Cancer a genetic disease with a germline gene defect has come from the demonstration of co-segregation of germline E-cadherin (CDH1 mutations with early onset diffuse gastric cancer in families with an autosomal dominant pattern of inheritance (HDGC. E-cadherin is a transmembrane calcium-dependent cell-adhesion molecule involved in cell-junction formation and the maintenance of epithelial integrity. In this review, we describe frequency and type of CDH1 mutations in sporadic and familial gastric cancer. Further we demonstrate the functional significance of some CDH1 germline missense mutations found in HDGC. We also discuss the CDH1 polymorphisms that have been associated to gastric cancer. We report other types of malignancies associated to HDGC, besides diffuse gastric cancer. Moreover, we review the data available on putative alternative candidate genes screened in familial gastric cancer. Finally, we briefly discuss the role of low-penetrance genes and Helicobacter pylori in gastric cancer. This knowledge is a fundamental step towards accurate genetic counselling, in which a highly specialised pre-symptomatic therapeutic intervention should be offered.

  7. Aging Families and Breast Cancer: Multigenerational Issues

    National Research Council Canada - National Science Library

    Raveis, Victoria

    2003-01-01

    With the continuing shift of cancer care to community-based care the necessity to develop programs that will enable the family to meet patients' needs for support and assistance is of paramount importance...

  8. Aging Families and Breast Cancer: Multigenerational Issues

    National Research Council Canada - National Science Library

    Raveis, Victoria

    2001-01-01

    With the continuing shift of cancer care to community-based care the necessity to develop programs that will enable the family to meet patients' needs for support and assistance is of paramount importance...

  9. Familial Investigations of Childhood Cancer Predisposition

    Science.gov (United States)

    2018-01-03

    Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

  10. Other cancers in lung cancer families are overwhelmingly smoking-related cancers

    Directory of Open Access Journals (Sweden)

    Hongyao Yu

    2017-06-01

    Full Text Available Familial risks of lung cancer are well-established, but whether lung cancer clusters with other discordant cancers is less certain, particularly beyond smoking-related sites, which may provide evidence on genetic contributions to lung cancer aetiology. We used a novel approach to search for familial associations in the Swedish Family-Cancer Database. This involved assessment of familial relative risk for cancer X in families with increasing numbers of lung cancer patients and, conversely, relative risks for lung cancer in families with increasing numbers of patients with cancers X. However, we lacked information on smoking. The total number of lung cancers in the database was 125 563. We applied stringent statistical criteria and found that seven discordant cancers were associated with lung cancer among family members, and six of these were known to be connected with smoking: oesophageal, upper aerodigestive tract, liver, cervical, kidney and urinary bladder cancers. A further novel finding was that cancer of unknown primary also associated with lung cancer. We also factored in histological evidence and found that anal and connective tissue cancers could be associated with lung cancer for reasons other than smoking. For endometrial and prostate cancers, suggestive negative associations with lung cancer were found. Although we lacked information on smoking it is prudent to conclude that practically all observed discordant associations of lung cancer were with cancers for which smoking is a risk factor.

  11. Importance of updating family cancer history in childhood cancer survivors.

    Science.gov (United States)

    Russo, Selena; Warby, Meera; Tucker, Katherine M; Wakefield, Claire E; Cohn, Richard J

    2017-10-01

    Estimates of the number of childhood cancers with a genetic basis range from 5-8.5% found in germline samples to 29% based on clinical criteria. Family history-taking practice is a fundamental first step in detecting at risk individuals and families. This study focused on Li-Fraumeni Syndrome (LFS), a highly penetrant cancer syndrome. Reported family history in a cohort of 648 of cancer survivor cohort (CCS) was examined. Eligible CCS were: (i) aged up to 14 years at diagnosis; (ii) more than 5 years postdiagnosis; (iii) treated for a childhood cancer at the study hospitals in NSW, Australia; (iv) in remission for more than 3 years. CCS completed self-administered questionnaires. Medical records confirmed diagnosis and treatment-related information. Our findings reveal an increased cancer risk among sibling and relatives of CCS. 91% of siblings diagnosed with cancer were diagnosed under the age of 40 and about 30% diagnosed under the aged of 15 revealing a 5- (RR = 5.1; 95% CI, 3.3-7.9) and 44-fold (RR = 44.6; 95% CI, 18.4-108.3) increased risked of cancer compared with the Australian population, respectively. About 2% of CCS reported that they had been diagnosed with a genetic cancer syndrome. However, 11% of survivors described a family history pattern which met Chompret criteria for screening for TP53 mutations associated with LFS. Our data suggests that familial cancer predispositions may be initially overlooked. Aperiodic and accurate ascertainment of family cancer history of childhood cancer patients and survivors is therefore recommended.

  12. [Familiality of breast cancer and hereditary factors].

    Science.gov (United States)

    Murata, M

    1982-05-01

    Recent results in family studies of breast cancer were overviewed. Site specific familial aggregation of the disease, with no significant increase of other cancers, by itself suggests a specified etiological role of the familial predisposition. Probably it must be interpreted by a synergism of some genetic and environmental factors. Among the cases in Cancer Institute Hospital, familially predisposed patients showed a significant differences in younger age at menarche and taller stature compared with the other patients. It has been frequently observed that a risk for the disease in the relatives of a patient is higher in pre-than in postmenopausal onset. It appears, however, that the age specific incidence rate among those women with a positive family history is consistently higher than that of the general population in any age classes except the premenopausal period. Findings obtained by recent endoclinological studies point out the concept that a possible genetic abnormality associated with the breast cancer disposition should be pertaining to the metabolism of ovarian hormone.

  13. Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Zetner, Diana Bregner; Bisgaard, Marie Luise

    2017-01-01

    The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular...... for CIN+. Some genes in FCCTX families (RPS20, BMPR1A, SEMA4A) have been identified by using a combination of linkage analysis and sequencing. Sequencing strategies and subsequent bioinformatics are improving fast. Exome sequencing and whole genome sequencing are currently the most promising tools...

  14. RAD51B in Familial Breast Cancer.

    Directory of Open Access Journals (Sweden)

    Liisa M Pelttari

    Full Text Available Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC that were genotyped on a custom chip (iCOGS. We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259 and population controls (n = 3586 from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR: 1.15, 95% confidence interval (CI: 1.11-1.19, P = 8.88 x 10-16 and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11, compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.

  15. RAD51B in Familial Breast Cancer

    Science.gov (United States)

    Pelttari, Liisa M.; Khan, Sofia; Vuorela, Mikko; Kiiski, Johanna I.; Vilske, Sara; Nevanlinna, Viivi; Ranta, Salla; Schleutker, Johanna; Winqvist, Robert; Kallioniemi, Anne; Dörk, Thilo; Bogdanova, Natalia V.; Figueroa, Jonine; Pharoah, Paul D. P.; Schmidt, Marjanka K.; Dunning, Alison M.; García-Closas, Montserrat; Bolla, Manjeet K.; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Hopper, John L.; Southey, Melissa C.; Rosenberg, Efraim H.; Fasching, Peter A.; Beckmann, Matthias W.; Peto, Julian; dos-Santos-Silva, Isabel; Sawyer, Elinor J.; Tomlinson, Ian; Burwinkel, Barbara; Surowy, Harald; Guénel, Pascal; Truong, Thérèse; Bojesen, Stig E.; Nordestgaard, Børge G.; Benitez, Javier; González-Neira, Anna; Neuhausen, Susan L.; Anton-Culver, Hoda; Brenner, Hermann; Arndt, Volker; Meindl, Alfons; Schmutzler, Rita K.; Brauch, Hiltrud; Brüning, Thomas; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Hartikainen, Jaana M.; Chenevix-Trench, Georgia; Van Dyck, Laurien; Janssen, Hilde; Chang-Claude, Jenny; Rudolph, Anja; Radice, Paolo; Peterlongo, Paolo; Hallberg, Emily; Olson, Janet E.; Giles, Graham G.; Milne, Roger L.; Haiman, Christopher A.; Schumacher, Fredrick; Simard, Jacques; Dumont, Martine; Kristensen, Vessela; Borresen-Dale, Anne-Lise; Zheng, Wei; Beeghly-Fadiel, Alicia; Grip, Mervi; Andrulis, Irene L.; Glendon, Gord; Devilee, Peter; Seynaeve, Caroline; Hooning, Maartje J.; Collée, Margriet; Cox, Angela; Cross, Simon S.; Shah, Mitul; Luben, Robert N.; Hamann, Ute; Torres, Diana; Jakubowska, Anna; Lubinski, Jan; Couch, Fergus J.; Yannoukakos, Drakoulis; Orr, Nick; Swerdlow, Anthony; Darabi, Hatef; Li, Jingmei; Czene, Kamila; Hall, Per; Easton, Douglas F.; Mattson, Johanna; Blomqvist, Carl; Aittomäki, Kristiina; Nevanlinna, Heli

    2016-01-01

    Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11–1.19, P = 8.88 x 10−16) and among familial cases (OR: 1.24, 95% CI: 1.16–1.32, P = 6.19 x 10−11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk. PMID:27149063

  16. Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer

    Directory of Open Access Journals (Sweden)

    Panganiban-Corales Avegeille T

    2011-10-01

    Full Text Available Abstract Background Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. Methods This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. Results More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70 and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Conclusion Many Filipino families of children with cancer have inadequate

  17. RAD51B in Familial Breast Cancer

    DEFF Research Database (Denmark)

    Pelttari, Liisa M; Khan, Sofia; Vuorela, Mikko

    2016-01-01

    Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition......, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD......51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients...

  18. Familial colorectal cancer type X: polyp burden and cancer risk stratification via a family history score.

    Science.gov (United States)

    Koh, Poh-Koon; Kalady, Matthew; Skacel, Marek; Fay, Susan; McGannon, Ellen; Shenal, Janet; Arroyo, Loretta; Toderick, Kathy; Church, James

    2011-01-01

    Patients fulfilling Amsterdam-1 criteria without mismatch repair deficiency (termed familial colorectal cancer type X (FCC type X)) were reported to have lower cancer risks than classic Lynch syndrome. This study investigates the polyp and cancer burden of this population and demonstrates relationships with a family history score (FHS). The Jagelman Registry was queried for patients meeting Amsterdam criteria with microsatellite stable/low colorectal cancers. The risk of colorectal neoplasia was ascertained using a published FHS. Polyp distribution, histology and cumulative counts as well as extra-colonic tumours in the pedigree were reviewed. Twenty-one patients (9 males, 12 females) met study criteria. The median lifetime polyp count was 3 (range 1–36). FHS 8 (80%) was significantly associated with an increased risk of colorectal cancer compared with those with scores colorectal cancers (7 left-sided, 3 right-sided) were diagnosed at a median age of 48 (range 30–74) years. Only three tumours were mucinous or demonstrated tumour-infiltrating lymphocytes, typical of high microsatellite instability tumours. All patients had family history of colorectal cancers (CRCs) and at least 10 patients had a family history of uterine or breast cancer. One patient was found to have hyperplastic polyposis syndrome. FCC type X likely represents a heterogenous group of as yet undefined CRC predispositions. The polyp burden and cancer risk are variable and can be somewhat delineated according to an FHS.

  19. Does Breast or Ovarian Cancer Run in Your Family?

    Science.gov (United States)

    ... Does Breast or Ovarian Cancer Run in Your Family? Recommend on Facebook Tweet Share Compartir If you ... get ovarian cancer by age 70. Does Your Family Health History Put You At Risk? Collect your ...

  20. What hinders minority ethnic access to cancer genetics services and what may help?

    Science.gov (United States)

    Allford, Anna; Qureshi, Nadeem; Barwell, Julian; Lewis, Celine; Kai, Joe

    2014-07-01

    Ethnic disparities in use of cancer genetics services raise concerns about equitable opportunity to benefit from familial cancer risk assessment, improved survival and quality of life. This paper considers available research to explore what may hinder or facilitate minority ethnic access to cancer genetics services. We sought to inform service development for people of South Asian, African or Irish origin at risk of familial breast, ovarian, colorectal and prostate cancers in the UK. Relevant studies from the UK, North America and Australasia were identified from six electronic research databases. Current evidence is limited but suggests low awareness and understanding of familial cancer risk among minority ethnic communities studied. Socio-cultural variations in beliefs, notably stigma about cancer or inherited risk of cancer, are identified. These factors may affect seeking of advice from providers and disparities in referral. Achieving effective cross-cultural communication in the complex contexts of both cancer and genetics counselling, whether between individuals and providers, when mediated by third party interpreters, or within families, pose further challenges. Some promising experience of facilitating minority ethnic access has been gained by introduction of culturally sensitive provider and counselling initiatives, and by enabling patient self-referral. However, further research to inform and assess these interventions, and others that address the range of challenges identified for cancer genetics services are needed. This should be based on a more comprehensive understanding of what happens at differing points of access and interaction at community, cancer care and genetic service levels.

  1. Involvement of microRNA families in cancer.

    Science.gov (United States)

    Wuchty, Stefan; Arjona, Dolores; Bozdag, Serdar; Bauer, Peter O

    2012-09-01

    Collecting representative sets of cancer microRNAs (miRs) from the literature we show that their corresponding families are enriched in sets of highly interacting miR families. Targeting cancer genes on a statistically significant level, such cancer miR families strongly intervene with signaling pathways that harbor numerous cancer genes. Clustering miR family-specific profiles of pathway intervention, we found that different miR families share similar interaction patterns. Resembling corresponding patterns of cancer miRs families, such interaction patterns may indicate a miR family's potential role in cancer. As we find that the number of targeted cancer genes is a naïve proxy for a cancer miR family, we design a simple method to predict candidate miR families based on gene-specific interaction profiles. Assessing the impact of miR families to distinguish between (non-)cancer genes, we predict a set of 84 potential candidate families, including 75% of initially collected cancer miR families. Further confirming their relevance, predicted cancer miR families are significantly indicated in increasing, non-random numbers of tumor types.

  2. Impact of colon cancer screening on family history phenotype.

    Science.gov (United States)

    Newcomb, Polly A; Savu, Anamaria; Phipps, Amanda I; Coghill, Anna E; Yasui, Yutaka

    2012-03-01

    If effective cancer screening is more common in people with a family history of cancer, the relationship between family history and cancer incidence may become distorted. To assess the impact of screening on the association between colorectal cancer family history and risk of colorectal cancer, we developed a model to simulate screening patterns in those with and without a family history. The introduction of screening reduces the apparent risk of colorectal cancer associated with family history in subsequent generations. This reduction becomes more pronounced as the difference in the uptake of screening between those with a family history and those without becomes larger. A result of effective screening is that observed family history of colorectal cancer may no longer match inherited risk, and observed family history may fail to be a strong risk factor. This may have implications for exposure-disease relationships if screening is differentially associated with the exposure.

  3. Family Caregivers for Cancer Patients in Thailand

    OpenAIRE

    Warunee Meecharoen; Northouse, Laurel L; Yupapin Sirapo-ngam; Supreeda Monkong

    2013-01-01

    This integrative review was conducted to describe findings from Thai studies concerning family caregivers for cancer patients. Twenty-three studies that were published from 1994 to 2009 were considered. There were 15 quantitative studies and 8 qualitative studies. The stress and coping model developed by Lazarus and Folkman was the most popular theory that was used to guide the studies. The variables that were explored...

  4. Family Caregivers for Cancer Patients in Thailand

    Directory of Open Access Journals (Sweden)

    Warunee Meecharoen

    2013-08-01

    Full Text Available This integrative review was conducted to describe findings from Thai studies concerning family caregivers for cancer patients. Twenty-three studies that were published from 1994 to 2009 were considered. There were 15 quantitative studies and 8 qualitative studies. The stress and coping model developed by Lazarus and Folkman was the most popular theory that was used to guide the studies. The variables that were explored in the quantitative studies consisted of social support, stress, coping, caregiver burden, quality of life (QOL, and others. The qualitative findings revealed that there were several themes such as the following: the meaning of being family caregivers for cancer patients, the meaning of care, the experiences of caregivers, and the problems and needs of family caregivers in the Thai context. The evidence from the 23 studies reviewed showed that the state of knowledge of cancer caregivers in the Thai context is at an early stage compared with the state of knowledge in Western countries. More research needs to be done to explore the concepts related to negative and positive outcomes of caregiving.

  5. The leptin gene family and colorectal cancer: interaction with smoking behavior and family history of cancer.

    Science.gov (United States)

    Liu, Li; Zhong, Rong; Wei, Sheng; Xiang, Hao; Chen, Jigui; Xie, Duoshuang; Yin, Jieyun; Zou, Li; Sun, Jingwen; Chen, Wei; Miao, Xiaoping; Nie, Shaofa

    2013-01-01

    Pathologic condition associated with metabolic syndrome traits seems to increase the risk of colorectal cancer. One mechanism underlying this relationship may involve the growth-promoting effects of the circulation hormones associated with obesity and insulin resistance, such as leptin. A two-stage case-control study was used to explore the role of polymorphisms of Leptin (LEP) and Leptin receptor (LEPR), either alone or in combination with environmental factors in colorectal carcinogenesis. In stage 1, 20 single nucleotide polymorphisms (SNPs) that tag common SNPs in these two genes were genotyped among 470 cases and 458 controls. In stage 2, another population with 314 cases and 355 controls were genotyped for the two most promising SNPs from stage 1. LEPR rs12037879 only presented modestly increased colorectal cancer risk, with odds ratios of 1.41 (95% confidence interval [CI] 1.13-1.76) and 1.74 (95%CI 1.08-2.81) for GA and AA genotype when compared with GG genotype in combined population. Smokers carrying LEPR rs12037879 A allele presented 1.67-fold (95%CI 1.39-fold to 2.01-fold) increased colorectal cancer risk when compared with non-smokers carrying GG genotype in combined analysis. Individuals with family history of cancer harboring LEPR rs12037879 A allele showed 1.52-fold (95%CI: 1.24-fold to 1.86-fold) increased colorectal cancer risk, compared with individuals without family history of cancer harboring GG genotype. Multifactor gene-environment interaction analysis revealed significant interactions among LEPR rs12037879, LEPR rs6690625, smoking status and family history of cancer, exhibiting a gradient of increased colorectal cancer risk along with the increasing number of risk factors (P = 9.82 × 10(-10)). Our research supports that polymorphisms in LEPR may be associated with marginal increase in the risk for colorectal cancer. Moreover, this association could be strengthened by cigarette smoking and family history of cancer.

  6. Development and pilot testing of a decision aid for men considering genetic testing for breast and/or ovarian cancer-related mutations (BRCA1/2).

    Science.gov (United States)

    Juan, Anne S; Wakefield, Claire E; Kasparian, Nadine A; Kirk, Judy; Tyler, Janet; Tucker, Kathy

    2008-12-01

    Despite the fact that both men and women can carry a breast/ovarian cancer-related mutation, the main emphasis in genetic counseling for breast/ovarian cancer-related risk remains on females. This study aimed to develop and pilot a decision aid specifically designed for men with a strong family history of breast and/or ovarian cancer who are considering genetic testing. The decision aid was developed by a multidisciplinary team of experts and a consumer representative. It was then reviewed by 27 men who had previously undergone genetic testing to identify a mutation in a BRCA1 or BRCA2 gene. All men who reviewed the decision aid indicated that they would recommend the booklet to other men in the same situation, and 96% of the sample (n = 26) reported being "very satisfied" or "satisfied" with the information contained in the decision aid. The decision aid was perceived by all participants as "very relevant" or "quite relevant" for men considering genetic testing. Ninety-three percent of men felt that it was easy to weigh the pros and cons of genetic testing with the help of the decision aid. The perceived impact on participants' emotions and understanding of the genetic testing process was also assessed. Several factors may hinder men from effectively weighing up the potential benefits and risks of genetic testing. A greater understanding of these issues may help health professionals to encourage men with a strong family history of breast and/or ovarian cancer to learn about cancer risk and the appropriate management strategies for themselves and their female relatives.

  7. Collection of Prostate Cancer Families and Mapping Additional Hereditary Prostate Cancer Genes (HPC2, HPC3..)

    National Research Council Canada - National Science Library

    Isaacs, William

    2001-01-01

    Segregation analyses of familial prostate cancer have provided evidence for the existence of dominantly-acting prostate cancer susceptibility alleles, with such genes being estimated to be responsible...

  8. Collection of Prostate Cancer Families and Mapping Additional Hereditary Prostate Cancer Genes (HPC2, HPC3,...)

    National Research Council Canada - National Science Library

    Isaacs, William

    2000-01-01

    Segregation analyses of familial prostate cancer have provided evidence for the existence of dominantly-acting prostate cancer susceptibility alleles, with such genes being estimated to be responsible...

  9. "The cancer bond": exploring the formation of cancer risk perception in families with Lynch syndrome.

    Science.gov (United States)

    Palmquist, Aunchalee E L; Koehly, Laura M; Peterson, Susan K; Shegog, Margarette; Vernon, Sally W; Gritz, Ellen R

    2010-10-01

    This study explores the social context of hereditary cancer risk perception in three families, an African-American family, a Mexican-American family, and a Caucasian family, each with Lynch Syndrome documented by a mismatch repair gene mutation. Communication network assessments measured family communication about cancer experiences and genetic testing information among a total of 26 participants. Participant narratives were evaluated to gain insight into how family cancer experiences and genetic testing information have shaped perceptions of cancer risk. Analysis of communication networks indicated that some families discussed cancer experiences to a greater extent than genetic testing information, and vice-versa. Interviews elucidated that sharing both types of health information led participants to conceptualize linkages among a strong family history of cancer, genetic testing information, and cancer prevention strategies. Understanding how different types of family communication influence the formation of perceived hereditary disease risk may enhance efforts to tailor genetic counseling services for families.

  10. Childhood cancers in families with and without Lynch syndrome.

    Science.gov (United States)

    Heath, John A; Reece, Jeanette C; Buchanan, Daniel D; Casey, Graham; Durno, Carol A; Gallinger, Steven; Haile, Robert W; Newcomb, Polly A; Potter, John D; Thibodeau, Stephen N; Le Marchand, Loïc; Lindor, Noralane M; Hopper, John L; Jenkins, Mark A; Win, Aung Ko

    2015-12-01

    Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased risk of colorectal cancer, endometrial cancer, and other adult malignancies (Lynch syndrome). The risk of childhood cancers in Lynch syndrome families, however, is not well studied. Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). There was no evidence of a difference in the proportion of relatives with a childhood cancer between Lynch syndrome families (41/17,230; 0.24%) and non-Lynch syndrome families (179/94,302; 0.19%; p = 0.19). Incidence rate of all childhood cancers was estimated to be 147 (95% CI 107-206) per million population per year in Lynch syndrome families and 115 (95% CI 99.1-134) per million population per year in non-Lynch syndrome families. There was no evidence for a significant increase in the risk of all childhood cancers, hematologic cancers, brain and central nervous system cancers, Lynch syndrome-associated cancers, or other cancers in Lynch syndrome families compared with non-Lynch syndrome families. Larger studies, however, are required to more accurately define the risk of specific individual childhood cancers in Lynch syndrome families.

  11. Family routines and rituals when a parent has cancer.

    Science.gov (United States)

    Buchbinder, Mara; Longhofer, Jeffrey; McCue, Kathleen

    2009-09-01

    A growing literature has drawn attention to the psychosocial impact of cancer on families with young children. However, to help families develop adaptive responses to chronic illness, recent scholarship has begun to advocate a shift in orientation from a deficit to a strengths perspective. In this article, the authors examine the reorganization of family life after cancer diagnosis by reporting findings from a qualitative study of families with young children (ages 2-9) dealing with a parent's cancer. The authors focus specifically on parents' self-reports of how their families developed and experienced new routines and rituals while one parent underwent cancer treatment. Despite significant upheaval in family life, the families in this study found ways to stabilize routines and maintain a sense of normalcy. Although cancer compels disruptions to existing routines and rituals, families demonstrated creative resilience in their capacity to incorporate cancer care into the formation of new family traditions, habits, and practices. By considering how families manage cancer as a joint endeavor, the authors hope to illuminate the ways in which cancer can bring families together as well as pull them apart.

  12. Analysis of PALB2/FANCN-Associated Breast Cancer Families

    National Research Council Canada - National Science Library

    Marc Tischkowitz; Bing Xia; Nelly Sabbaghian; Jorge S. Reis-Filho; Nancy Hamel; Guilan Li; Erik H. van Beers; Lili Li; Tayma Khalil; Louise A. Quenneville; Atilla Omeroglu; Aletta Poll; Pierre Lepage; Nora Wong; Petra M. Nederlof; Alan Ashworth; Patricia N. Tonin; Steven A. Narod; David M. Livingston; William D. Foulkes

    2007-01-01

    ... also predispose to breast cancer. Given its close relationship with BRCA2, PALB2 was sequenced in affected probands from 68 BRCA1/BRCA2-negative breast cancer families of Ashkenazi Jewish, French Canadian, or mixed ethnic descent...

  13. Screening patients with a family history of colorectal cancer.

    Science.gov (United States)

    Fletcher, Robert H; Lobb, Rebecca; Bauer, Mark R; Kemp, James Alan; Palmer, Richard C; Kleinman, Ken P; Miroshnik, Irina; Emmons, Karen M

    2007-04-01

    To compare screening practices and beliefs in patients with and without a clinically important family history. We mailed a brief questionnaire asking about family history and a second, longer survey asking about knowledge of and beliefs about colorectal cancer to all respondents with a family history and a random sample of respondents without a family history of colorectal cancer. We reviewed electronic medical records for screening examinations and recording of family history. One thousand eight hundred seventy of 6,807 randomly selected patients ages 35-55 years who had been continuously enrolled in a large multispecialty group practice for at least 5 years. Recognition of increased risk, screening practices, and beliefs-all according to strength of family history and patient's age. Nineteen percent of respondents reported a family history of colorectal cancer. In 11%, this history was strong enough to warrant screening before age 50 years. However, only 39% (95% CI 36, 42) of respondents under the age of 50 years said they had been asked about family history and only 45% of those with a strong family history of colorectal cancer had been screened appropriately. Forty-six percent of patients with a strong family history did not know that they should be screened at a younger age than average risk people. Medical records mentioned family history of colorectal cancer in 59% of patients reporting a family history. More efforts are needed to translate information about family history of colorectal cancer into the care of patients.

  14. The role of social support, family identification, and family constraints in predicting posttraumatic stress after cancer.

    Science.gov (United States)

    Swartzman, Samantha; Sani, Fabio; Munro, Alastair J

    2017-09-01

    We compared social support with other potential psychosocial predictors of posttraumatic stress after cancer. These included family identification, or a sense of belonging to and commonality with family members, and family constraints, or the extent to which family members are closed, judgmental, or unreceptive in conversations about cancer. We also tested the hypothesis that family constraints mediate the relationship between family identification and cancer-related posttraumatic stress. We used a cross-sectional design. Surveys were collected from 205 colorectal cancer survivors in Tayside, Scotland. Both family identification and family constraints were stronger independent predictors of posttraumatic stress than social support. In multivariate analyses, social support was not a significant independent predictor of posttraumatic stress. In addition, there was a significant indirect effect of family identification on posttraumatic stress through family constraints. Numerous studies demonstrate a link between social support and posttraumatic stress. However, experiences within the family may be more important in predicting posttraumatic stress after cancer. Furthermore, a sense of belonging to and commonality with the family may reduce the extent to which cancer survivors experience constraints on conversations about cancer; this may, in turn, reduce posttraumatic stress. Copyright © 2016 John Wiley & Sons, Ltd.

  15. Economic impact of advanced pediatric cancer on families.

    Science.gov (United States)

    Bona, Kira; Dussel, Veronica; Orellana, Liliana; Kang, Tammy; Geyer, Russ; Feudtner, Chris; Wolfe, Joanne

    2014-03-01

    Despite emerging evidence of substantial financial distress in families of children with complex illness, little is known about economic hardship in families of children with advanced cancer. To describe perceived financial hardship, work disruptions, income losses, and associated economic impact in families of children with advanced cancer stratified by federal poverty level (FPL). Cross-sectional survey of 86 parents of children with progressive, recurrent, or nonresponsive cancer at three children's hospitals. Seventy-one families with complete income data (82%) are included in this analysis. Parental work disruptions were prevalent across all income levels, with 67 (94%) families reporting some disruption. At least one parent quit a job because of the child's illness in 29 (42%) families. Nineteen (27%) families described their child's illness as a great economic hardship. Income losses because of work disruptions were substantial for all families; families at or below 200% FPL, however, were disproportionately affected. Six (50%) of the poorest families lost more than 40% of their annual income as compared with two (5%) of the wealthiest families (P = 0.006). As a result of income losses, nine (15%) previously nonpoor families fell from above to below 200% FPL. The economic impact of pediatric advanced cancer on families is significant at all income levels, although poorer families suffer disproportionate losses. Development of ameliorative intervention strategies is warranted. Copyright © 2014 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.

  16. Clinical application of family management styles to families of children with cancer.

    Science.gov (United States)

    Ogle, Susan K

    2006-01-01

    The potential clinical application of family management styles for working with families who have children with cancer is discussed. Case studies are used to illustrate the usefulness and clinical application of the model.

  17. Predictors for contralateral prophylactic mastectomy in breast cancer patients.

    Science.gov (United States)

    Fu, Yun; Zhuang, Zhigang; Dewing, Michelle; Apple, Sophia; Chang, Helena

    2015-01-01

    In recent years, radical breast cancer surgery has been largely replaced by breast conservation treatment, due to early diagnosis and more effective adjuvant treatment. While breast conservation is mostly preferred, the trend of bilateral mastectomy has risen in the United States. The aim of this study is to determine factors influencing patients' choice for having contralateral prophylactic mastectomy (CPM). This is a retrospective study of 373 patients diagnosed with primary invasive breast cancer who were treated by bilateral or unilateral mastectomy (BM or UM) at the Revlon/UCLA Breast Center between Jan. 2002 and Dec. 2010. In the BM group, only those with unilateral breast cancer who chose CPM were included in the analysis. When compared with the UM group, the following factors were found to be associated with BM: younger age, pre-menopausal, a family history of breast/ovarian cancer, BRCA mutation, more breast biopsies, history of breast augmentation, having MRI study within 6 months before the surgery, more likely to have reconstruction and sentinel lymph node biopsy (SLNB) and fewer had neoadjuvant/adjuvant chemotherapy/radiation. When patients with bilateral breast cancer were excluded, multivariate logistic regression analysis indicated younger patients with negative nodes, SLNB as the only nodal surgery and positive family history were significant factors predicting CPM and immediate reconstruction using tissue expanders or implants. Younger age, lower TN stage, requiring only SLNB and high risk family history predict contralateral prophylactic mastectomy. Tissue expander/implant-based reconstructions were more frequently chosen by patients with BM.

  18. Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families

    DEFF Research Database (Denmark)

    Boilesen, Astrid Elisabeth Bruun; Bisgaard, Marie Luise; Bernstein, Inge

    2008-01-01

    cancer. Lifetime risk was elevated four times in familial CRC families. In these families, frequency was correlated to the pedigree phenotype, with significantly higher frequency demonstrated in Amsterdam II families compared to Amsterdam I families and families suspected of HNPCC. A total of 39 cases...

  19. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.

    Science.gov (United States)

    Engert, Stefanie; Wappenschmidt, Barbara; Betz, Beate; Kast, Karin; Kutsche, Michael; Hellebrand, Heide; Goecke, Timm O; Kiechle, Marion; Niederacher, Dieter; Schmutzler, Rita K; Meindl, Alfons

    2008-07-01

    We present a comprehensive analysis of 1,506 German families for large genomic rearrangements (LGRs) in the BRCA1 gene and of 450 families in the BRCA2 gene by the multiplex ligation-dependent probe amplification (MLPA) technique. A total of 32 pathogenic rearrangements in the BRCA1 gene were found, accounting for 1.6% of all mutations, but for 9.6% of all BRCA1 mutations identified in a total of 1,996 families, including 490 with small pathogenic BRCA1/2 mutations. Considering only high risk groups for hereditary breast/ovarian cancer, the prevalence of rearrangements is 2.1%. Interestingly, deletions involving exon 17 of the BRCA1 gene seem to be most frequent in Germany. Apart from recurrent aberrations like del ex17, dupl ex13, and del ex22, accounting for more than 50% of all BRCA1 LGRs, we could fully characterize 11 novel deletions. Moreover, one novel deletion involving exons 1-7 and one deletion affecting the entire BRCA1 gene were identified. All rearrangements were detected in families with: 1) at least two breast cancer cases prior to the age of 51 years; 2) breast and ovarian cancer cases; 3) ovarian cancer only families with at least two ovarian cancer cases; or 4) a single breast cancer case prior to the age of 36 years, while no mutations were detected in breast cancer only families with no or only one breast cancer case prior to the age of 51 years. Analysis for gross rearrangements in 412 high-risk individuals, revealed no event in the BRCA2 gene and only two known CHEK2 mutations. However, in an additional 38 high-risk families with cooccurrence of female breast/ovarian and male breast cancer, one rearrangement in the BRCA2 gene was found. In summary, we advise restricting BRCA1 MLPA screening to those subgroups that revealed LGRs and recommend BRCA2 MLPA screening only for families presenting with cooccurrence of female and male breast cancer.

  20. Family Relationships and Psychosocial Dysfunction among Family Caregivers of Patients with Advanced Cancer

    DEFF Research Database (Denmark)

    Nissen, Kathrine Grovn; Trevino, Kelly; Lange, Theis

    2016-01-01

    CONTEXT: Caring for a family member with advanced cancer strains family caregivers. Classification of family types has been shown to identify patients at risk of poor psychosocial function. However, little is known about how family relationships affect caregiver psychosocial function. OBJECTIVES......: To investigate family types identified by a cluster analysis and to examine the reproducibility of cluster analyses. We also sought to examine the relationship between family types and caregivers' psychosocial function. METHODS: Data from 622 caregivers of advanced cancer patients (part of the Coping with Cancer...... Study) were analyzed using Gaussian Mixture Modeling as the primary method to identify family types based on the Family Relationship Index questionnaire. We then examined the relationship between family type and caregiver quality of life (Medical Outcome Survey Short Form), social support (Interpersonal...

  1. Breast Cancer-Related Lymphedema: Implications for Family Leisure Participation

    Science.gov (United States)

    Radina, M. Elise

    2009-01-01

    An estimated 20% of breast cancer survivors face the chronic condition of breast cancer-related lymphedema. This study explored the ways in which women with this condition experienced changes in their participation in family leisure as one indicator of family functioning. Participants (N = 27) were interviewed regarding lifestyles before and after…

  2. Breast and Ovarian Cancer and Family History Risk Categories

    Science.gov (United States)

    ... Health History, Breast and Ovarian Cancer Risk, and Women of Ashkenazi Jewish or Eastern European ancestry If you are a woman of Ashkenazi Jewish ... or ovarian cancer are at higher risk than women of other ancestries with similar family health histories. A family health ...

  3. Family Adjustment to Childhood Cancer: A Systematic Review

    Science.gov (United States)

    Long, Kristin A.; Marsland, Anna L.

    2011-01-01

    This systematic review integrates qualitative and quantitative research findings regarding family changes in the context of childhood cancer. Twenty-eight quantitative, 42 qualitative, and one mixed-method studies were reviewed. Included studies focused on family functioning, marital quality, and/or parenting in the context of pediatric cancer,…

  4. DNA Double Strand Break Repair and its Association with Inherited Predispositions to Breast Cancer

    Directory of Open Access Journals (Sweden)

    Scott Rodney J

    2004-02-01

    Full Text Available Abstract Mutations in BRCA1 account for the majority of familial aggregations of early onset breast and ovarian cancer (~70% and about 1/5 of all early onset breast cancer families; in contrast, mutations in BRCA2 account for a smaller proportion of breast/ovarian cancer families and a similar proportion of early onset breast cancer families. BRCA2 has also been shown to be associated with a much more pleiotropic disease spectrum compared to BRCA1. Since the identification of both BRCA1 and BRCA2 investigations into the functions of these genes have revealed that both are associated with the maintenance of genomic integrity via their apparent roles in cellular response to DNA damage, especially their involvement in the process of double strand DNA break repair. This review will focus on the specific roles of both genes and how functional differences may account for the diverse clinical findings observed between families that harbour BRCA1 or BRCA2 mutations.

  5. Familial colorectal cancer: Patient assessment, surveillance and surgical management.

    Science.gov (United States)

    Kennelly, R P; Gryfe, R; Winter, D C

    2017-02-01

    Germline mutations account for 5-10% of colorectal cancer. Most mutations are autosomal dominant with high penetrance and affected patients benefit greatly from appropriate treatment. This review presents the current knowledge regarding familial colorectal cancer and provides practical information based on international guidelines and the best available evidence regarding patient assessment, surveillance and surgical management. Surgeons are often the first point of contact and frequently, the main provider of care for families with cancer syndromes or patients with familial cancer. Patients with a polyposis phenotype should undergo appropriate genetic testing. In non-polyposis patients with a cancer diagnosis, tumor testing for Lynch syndrome can guide the use of genetic testing. In patients without a personal history of cancer or polyposis, a carefully obtained family history with testing of available tumor tissue or of a living relative affected by colorectal cancer informs the need for genetic testing. Surveillance and surgical management should be planned following thorough assessment of familial cancer risk. Evidence exists to provide guidance as to the surveillance strategies required, the specific indications of genetic testing and the appropriate timing of operative intervention. A carefully obtained family history with selective genetic testing should inform surveillance and surgical management in patients who have a genetic predisposition for the development of colorectal cancer. Copyright © 2016 Elsevier Ltd, BASO ~ The Association for Cancer Surgery, and the European Society of Surgical Oncology. All rights reserved.

  6. Genetic susceptibility for specific cancers. Medical liability of the clinician.

    Science.gov (United States)

    Severin, M J

    1999-12-01

    The use of genetic profiling techniques to detect individuals with an increased susceptibility to heritable cancers has provoked recent legal interest in the duties of the attending physician and in the rights of patients and their families. In the current study specific prima facie and recently litigated cases are presented and explored to delineate the issues facing physicians and to illustrate the prerogatives of patients who are caught up in a heritable cancer enigma. Various courts have attempted to answer questions involving lawsuits in which incidents of breast/ovarian carcinoma and colon carcinoma have provoked claims of negligence against health care providers. Health care workers involved in the care of these patients have specific duties to these individuals. It would appear that physicians are being forced to assume the additional duty of delving into a patient's family history of cancer through multiple generations. This duty is followed by a responsibility to provide detailed counseling to those patients in whom such activity impacts the diagnosis and management of familial cancer.

  7. Benefits of Attending a Weekend Childhood Cancer Survivor Family Retreat.

    Science.gov (United States)

    Bashore, Lisa; Bender, Joyce

    2017-09-01

    To explore the long-term benefits to families of childhood cancer survivors who attended a weekend childhood cancer survivor family retreat. Descriptive-qualitative study including families who had attended the weekend retreat at least once but not in the past 12 months, and who attend a large pediatric hematology and oncology cancer survivorship program in Texas. A semistructured interview guide was used during three audio-taped focus groups to explore the benefits of having attended a weekend retreat. Descriptive qualitative analysis was used to analyze the focus groups' transcripts. Seven families participated in the focus groups, and the themes identified were reconnecting (with others or family), putting life in perspective, and changing outlook on life. Retreats offer families of cancer survivors opportunities to reconnect with others and their own family members in a therapeutic environment. These reconnections in a therapeutic environment enriched the families' positive outlooks on life and changed their perspectives. Families of childhood cancer survivors report a lack of support following the completion of therapy. Retreats in a nonclinical therapeutic setting optimize family-perceived support, relationship building, and reconnecting survivor families. © 2017 Sigma Theta Tau International.

  8. Family history and risk of breast cancer: an analysis accounting for family structure.

    Science.gov (United States)

    Brewer, Hannah R; Jones, Michael E; Schoemaker, Minouk J; Ashworth, Alan; Swerdlow, Anthony J

    2017-08-01

    Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take no account of the size and age-structure of the woman's family. Using data from the Generations Study, a cohort of over 113,000 women from the general UK population, we analyzed breast cancer risk in relation to first-degree family history using a family history score (FHS) that takes account of the expected number of family cases based on the family's age-structure and national cancer incidence rates. Breast cancer risk increased significantly (P trend history was that combining FHS and age of relative at diagnosis. A family history score based on expected as well as observed breast cancers in a family can give greater risk discrimination on breast cancer incidence than conventional parameters based solely on cases in affected relatives. Our modeling suggests that a yet stronger predictor of risk might be a combination of this score and age at diagnosis in relatives.

  9. Health Behaviors in Family Members of Patients Completing Cancer Treatment

    Science.gov (United States)

    Mazanec, Susan R.; Flocke, Susan A.; Daly, Barbara J.

    2017-01-01

    Purpose/Objectives To describe the impact of the cancer experience on the health behaviors of survivors’ family members and to determine factors associated with family members’ intentions for health behavior change. Design Descriptive, cross-sectional, correlational study. Setting A National Cancer Institute-designated comprehensive cancer center in the Midwestern United States. Sample 39 family members and 50 patients with diagnoses of breast, colon, head and neck, lung, or prostate cancer who were completing definitive cancer treatment. Methods Patients and family members were approached in the clinic at 3 weeks or less before the completion of their course of treatment. Family members completed surveys and a structured interview in-person or via telephone. Main Research Variables Intention, perceived benefit, and confidence for eating a healthy diet, physical activity, and smoking cessation; emotional distress; and family cohesiveness, conflict, and expressiveness. Findings Family members had, on average, high ratings for intention, perceived benefit, and confidence related to behaviors of eating a healthy diet and doing 30 minutes of daily moderate physical activity. They also had high ratings for the extent to which the cancer experience raised their awareness of their own cancer risk and made them think about having screening tests; ratings were lower for making changes in their health behaviors. Distress scores of family members were high at the completion of cancer treatment. Greater intention for physical activity and nutrition was associated with greater perceived benefit and confidence. Higher scores for family expressiveness was associated with intention for nutrition. Greater intention for smoking cessation was associated only with confidence. Conclusions Family members expressed strong intentions to engage in health-promoting behaviors related to physical activity and nutrition at the transition to post-treatment survivorship. Implications for

  10. Helping patients and their family caregivers cope with cancer.

    Science.gov (United States)

    Northouse, Laurel L

    2012-09-01

    Family caregivers face multiple demands as they care for their loved ones with cancer, and these demands have increased dramatically in recent years. Patients with cancer now receive toxic treatments in outpatient settings and return home to the care of their family members. Some patients receive in-home infusions, which were unheard of a few years ago. Family caregivers provide tasks that were previously provided by nurses; however, caregivers lack the educational preparation that nurses receive.

  11. Methylenetetrahydrofolate Reductase Polymorphisms at Familial Bladder Cancer: Case Report

    Directory of Open Access Journals (Sweden)

    Gulay Ceylan

    2016-02-01

    Full Text Available Bladder cancer is the seventh most common cancer in men in the world, it is the second most seen cancer after lung cancer and the first in urogenital tumours in Turkey. Many molecular epidemiologic studies have been reported to investigate the associations between the MTHFR C677T and A1298C polymorphisms and bladder cancer risk. In this report, a family with transitional bladder cancer have also MTHFR A1298C heterozygosity which supports the association between MTHFR variants and bladder cancer. This %uFB01nding should be further validated by prospective and larger studies with more diverse ethnic groups.

  12. The updated Swedish family-cancer database used to assess familial risks of prostate cancer during rapidly increasing incidence

    Directory of Open Access Journals (Sweden)

    Hemminki Kari

    2006-12-01

    Full Text Available Abstract The Swedish Family-Cancer Database has been used for some 10 years in the study of familial risks at all common sites. In the present paper we describe some of the main features of version VII of this Database, assembled in year 2006. This update included all residents in Sweden born or immigrated in 1932 and later (offspring with their biological parents, a total of 11.5 million individuals. Cancer cases were retrieved from the Swedish Cancer Registry from years 1958 to 2004, including over 1.2 million first and multiple primary cancers and in situ tumours. We show one application of the Database in the study of familial risks in prostate cancer, with special reference to the modification of familial risk at the time of about 50% increase in incidence due to prostate specific antigen (PSA screening. The familial risks for prostate cancer were 1.92 for sons of affected fathers, 3.03 for brothers and 5.44 for men with an affected father and an affected brother. Familial risk for prostate cancer according to the time since the first family member was diagnosed showed significant increases for two family members being diagnosed in the same year compared to 5+ years apart. Increased surveillance and the availability of PSA screening are the likely reasons for the overestimated familial relative risk shortly after the first diagnosis. This lead time bias should be considered in clinical counselling.

  13. Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated

    NARCIS (Netherlands)

    Harinck, Femme; Kluijt, Irma; van Mil, Saskia E.; Waisfisz, Quinten; van Os, Theo A. M.; Aalfs, Cora M.; Wagner, Anja; Olderode-Berends, Maran; Sijmons, Rolf H.; Kuipers, Ernst J.; Poley, Jan-Werner; Fockens, Paul; Bruno, Marco J.

    PALB2-mutation carriers not only have an increased risk for breast cancer (BC) but also for pancreatic cancer (PC). Thus far, PALB2 mutations have been mainly found in PC patients from families affected by both PC and BC. As it is well known that the prevalence of gene mutations varies between

  14. Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated

    NARCIS (Netherlands)

    F. Harinck (Femme); I. Kluijt (Irma); S.E. van Mil (Saskia); Q. Waisfisz (Quinten); T.A.M. van Os (Theo); C.M. Aalfs (Cora); A. Wagner (Anja); M. Olderode-Berends (Maran); R.H. Sijmons (Rolf); E.J. Kuipers (Ernst); J.-W. Poley (Jan-Werner); P. Fockens (Paul); M.J. Bruno (Marco)

    2012-01-01

    textabstractPALB2-mutation carriers not only have an increased risk for breast cancer (BC) but also for pancreatic cancer (PC). Thus far, PALB2 mutations have been mainly found in PC patients from families affected by both PC and BC. As it is well known that the prevalence of gene mutations varies

  15. The evolving role of familial history for prostate cancer.

    Science.gov (United States)

    Colloca, Giuseppe; Venturino, Antonella

    2011-01-01

    family history of prostate cancer is a risk factor for prostate cancer occurrence. Differently from other neoplasms no major predisposing gene has been identified. this review article presents the controversial results of studies about the prognostic and predictive role of family history in prostate cancer, reports the discovered predisposing genes, and biologic and pathologic findings. mortality from PC remains a significant health care problem, but no trial investigated if it changed in presence of positive family history. The largest family study yet published concluded that men with family history are diagnosed and die at earlier ages than men without it. However, it failed to stress the prognostic value of family history. Genome-wide association studies of prostate cancer have identified a number of genetic variants at different loci in different populations. Prostate neoplasms of patients with positive family history exhibit a different pattern of expression of genes related with estrogen and androgen metabolism within the tumor. High-penetrance and low-penetrance genes in diagnosis and prognosis of prostate cancer, difficulties to define a classification and to quantify relative risks of single genes, documented gene-environment interactions are discussed. family history stands for both shared genetic and environmental factors and their interaction. The availability of prostate-specific antigen test could explain partly the high familial risk, among brothers or shortly after the diagnosis of prostate cancer. Polymorphisms in genes associated with prostate cancer probably represent the most part of familial prostate cancer burden. An increasing knowledge of disregulated cellular pathways of lethal prostate cancer could define which of all genetic alterations have a role in defining new preventive and therapeutic strategies.

  16. Family history of liver cancer and hepatocellular carcinoma.

    Science.gov (United States)

    Turati, Federica; Edefonti, Valeria; Talamini, Renato; Ferraroni, Monica; Malvezzi, Matteo; Bravi, Francesca; Franceschi, Silvia; Montella, Maurizio; Polesel, Jerry; Zucchetto, Antonella; La Vecchia, Carlo; Negri, Eva; Decarli, Adriano

    2012-05-01

    Familial clustering of hepatocellular carcinoma (HCC) has been frequently reported in eastern Asiatic countries, where hepatitis B infection is common. Little is known about the relationship between family history of liver cancer and HCC in Western populations. We carried out a case-control study in Italy, involving 229 HCC cases and 431 hospital controls. Data on family history were summarized through a binary indicator (yes/no) and a family history score (FHscore), considering selected family characteristics. Odds ratios (ORs) and the corresponding 95% confidence intervals (CIs) were obtained from unconditional multiple logistic regression models, including terms for age, sex, study center, education, tobacco smoking, alcohol drinking, hepatitis B surface antigen, and/or anti-hepatitis C virus positivity. We also performed a meta-analysis on family history of liver cancer and liver cancer updated to April 2011 using random-effects models. After adjustment for chronic infection with hepatitis B/C viruses, family history of liver cancer was associated with HCC risk, when using both the binary indicator (OR, 2.38; 95% CI, 1.01-5.58) and the FHscore, with increasing ORs for successive score categories. Compared to subjects without family history and no chronic infection with hepatitis B/C viruses, the OR for those exposed to both risk factors was 72.48 (95% CI, 21.92-239.73). In the meta-analysis, based on nine case-control and four cohort studies, for a total of approximately 3,600 liver cancer cases, the pooled relative risk for family history of liver cancer was 2.50 (95% CI, 2.06-3.03). A family history of liver cancer increases HCC risk, independently of hepatitis. The combination of family history of liver cancer and hepatitis B/C serum markers is associated with an over 70-fold elevated HCC risk. Copyright © 2011 American Association for the Study of Liver Diseases.

  17. Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population

    Directory of Open Access Journals (Sweden)

    Górski Bohdan

    2006-08-01

    Full Text Available Abstract Objectives This study was undertaken to determine: 1 Type and prevalence of founder mutations BRCA1 and BRCA2 genes in Polish families with strong aggregation of breast and/or ovarian cancer. 2 Risk of breast and/or ovarian cancer depending on type of BRCA1 gene mutation. 3 Prevalence of BRCA1 mutation and of other alleles presumably linked with predisposition to breast cancer in unselected Polish patients with breast cancer. 4 Risk of breast cancer in patients with 5972C/T polymorphism that alters the BRCA2 protein structure. Summary of the results 1. Among 66 families from several regions in Poland with a strong aggregation of breast/ovarian cancer, founder mutation of the BRCA1 gene were disclosed in 34 families and of the BRCA2 gene in on family. Altogether, seven different mutations were disclosed. Five mutations were found in at least two families in this group. The most frequent mutation was 5382insC (18 families, followed by C61G (7 families and 4153delA (4 families. 2. Among 200 families representative for Poland with strong aggregation of breast/ovarian cancer, mutation of the BRCA1 gene were found in 122 families (61% and of the BRCA2 gene in seven families (3,5%. 119 out of 122 mutations of the BRCA1 gene (97,5% were repeatable. Three recurrent mutations of the BRCA1 gene (5382insC, C61G, 4153delA characteristic for the Polish population were disclosed in 111 families representing 86% of all pathogenic sequences of this gene. 3. The risk of ovarian cancer in carriers of the three most frequent recurrent mutation of the BRCA1 gene in Poland is similar (OR 43.6 for 5382insC and 50 for 4153delA. The risk of breast cancer is significantly different for 4153delA (OR 1 and for other mutations (OR 10.9. 4. Among 2012 unselected breast cancers diagnosed in hospitals of nine Polish cities, mutations of the BRCA1 gene (5382insC, C61G, 4153delA were disclosed in 2.9% patients. CHEK2 alternation (1100delC, IVS2+1G>A, I157T was

  18. Family history and survival after colorectal cancer diagnosis.

    Science.gov (United States)

    Bass, Adam J; Meyerhardt, Jeffrey A; Chan, Jennifer A; Giovannucci, Edward L; Fuchs, Charles S

    2008-03-15

    A history of colorectal cancer in a first-degree relative is a recognized risk factor for developing this malignancy. The influence of a family history of colorectal cancer on survival after a diagnosis of colorectal cancer was examined in a large cohort of women. We analyzed data from 1001 women diagnosed with colorectal cancer while participating in a prospective cohort study. Data on family history were obtained before cancer diagnosis. We computed Cox proportional hazards for cancer-specific and overall mortality according to a family history of colorectal cancer, adjusting for other predictors for survival. Before diagnosis, 16% of colorectal patients reported a history of colorectal cancer in a first-degree relative. Patients with a history of colorectal cancer in 1 or more first-degree relatives experienced an adjusted hazard ratio (HR) for overall mortality of 1.32 (95% confidence interval [CI], 1.01-1.72) and colorectal cancer-specific mortality of 1.38 (95% CI, 1.02-1.86) when compared with those without a family history. Moreover, patients with 2 or more affected relatives had an HR for overall mortality of 2.07 (95% CI, 1.14-3.76) and cancer-specific mortality of 2.19 (95% CI, 1.10-4.38). The significant deleterious effect of family history was limited to patients with advanced disease at presentation and cancers originating in the colon. Among women with colorectal cancer, a history of colorectal cancer in a first-degree relative was associated with a significant decrease in survival. Additional study is needed to validate these findings and determine whether specific germline polymorphisms correlate with clinical outcomes. Copyright (c) 2008 American Cancer Society.

  19. Family history and environmental risk factors for colon cancer.

    Science.gov (United States)

    Fernandez, Esteve; Gallus, Silvano; La Vecchia, Carlo; Talamini, Renato; Negri, Eva; Franceschi, Silvia

    2004-04-01

    We analyzed the joint effect of environmental risk factors and family history of colorectal cancer on colon cancer. We used data from a case-control study conducted in northern Italy between 1992 and 1996 including 1225 cases with colon cancer and 4154 controls. We created a weighed risk factor score for the main environmental risk factors in this population (positive family history, high education, low occupational physical activity, high daily meal frequency, low intake of fiber, low intake of calcium, and low intake of beta-carotene). Compared with the reference category (subjects with no family history of colorectal cancer and in the lowest tertile of the risk factor score), the odds ratios of colon cancer were 2.27 [95% confidence interval (CI) = 1.89-2.73] for subjects without family history and in the highest environmental risk factor score, 3.20 (95% CI = 2.05-5.01) for those with family history and low risk factor score, and 7.08 (95% CI = 4.68-10.71) for those with family history and high risk factor score. The pattern of risk was similar for men and women and no meaningful differences emerged according to subsite within the colon. Family history of colorectal cancer interacts with environmental risk factors of colon cancer.

  20. Health behaviors in family members of patients completing cancer treatment.

    Science.gov (United States)

    Mazanec, Susan R; Flocke, Susan A; Daly, Barbara J

    2015-01-01

    To describe the impact of the cancer experience on the health behaviors of survivors' family members and to determine factors associated with family members' intentions for health behavior change. Descriptive, cross-sectional, correlational. A National Cancer Institute-designated comprehensive cancer center in the midwestern United States. 39 family members and 50 patients with diagnoses of breast, colorectal, head and neck, lung, or prostate cancer who were completing definitive cancer treatment. Patients and family members were approached in the clinic at three weeks or fewer before the completion of their course of treatment. Family members completed surveys and a structured interview in person or via telephone. Intention, perceived benefit, and confidence about eating a healthful diet, physical activity, and smoking cessation; emotional distress; and family cohesion, conflict, and expressiveness. Family members had high ratings for intention, perceived benefit, and confidence related to the behaviors of eating a healthful diet and performing 30 minutes of daily moderate-intensity physical activity. They also had high ratings for the extent to which the cancer experience had raised awareness of their cancer risk and made them consider undergoing screening tests for cancer; ratings were lower for making changes in their health behaviors. Family members expressed strong intentions to engage in health-promoting behaviors related to physical activity and nutrition at the post-treatment transition. Oncology nurses are in a key position to engage family members and patients in behavior change. Nurses should assess family members at the completion of treatment for distress and provide interventions to influence the trajectory of distress in survivorship.

  1. Prognostic significance of cancer family history for patients with gastric cancer: a single center experience from China.

    Science.gov (United States)

    Liu, Xiaowen; Cai, Hong; Yu, Lin; Huang, Hua; Long, Ziwen; Wang, Yanong

    2016-06-14

    Family history of cancer is a risk factor for gastric cancer. In this study, we investigated the prognoses of gastric cancer patients with family history of cancer. A total of 1805 gastric cancer patients who underwent curative gastrectomy from 2000 to 2008 were evaluated. The clinicopathologic parameters and prognoses of gastric cancer patients with a positive family history (PFH) of cancer were compared with those with a negative family history (NFH). Of 1805 patients, 382 (21.2%) patients had a positive family history of cancer. Positive family history of cancer correlated with younger age, more frequent alcohol and tobacco use, worse differentiation, smaller tumor size, and more frequent tumor location in the lower 1/3 of the stomach. The prognoses of patients with a positive family history of cancer were better than that of patients with a negative family history. Family history of cancer independently correlated with better prognosis after curative gastrectomy in gastric cancer patients.

  2. Family survivorship and quality of life following a cancer diagnosis.

    Science.gov (United States)

    Mellon, S; Northouse, L L

    2001-12-01

    The objectives of this study were: (a) to examine the quality of life of the family as a unit during the long-term survivor phase of illness and (b) to test a family model of factors that may influence family quality of life. The family survivorship model, which includes illness survival stressors (family stressors, fear of recurrence, and patient somatic concerns), resources (family hardiness and family social support), appraisal (family meaning of the illness), and the outcome, family quality of life, was used to guide this exploratory cross-sectional study. A random, stratified sample of 123 families (N = 246 individuals) was interviewed 1-5 years after treatment ended. The model explained 63% of the variance in family quality of life, with the strongest predictors being concurrent family stressors, family social support, family member fear of recurrence, family meaning of the illness, and patient employment status. The study findings suggest the importance of addressing cancer-related stressors, family resources, and family meaning as key factors related to family quality of life. Copyright 2001 John Wiley & Sons, Inc.

  3. Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.

    Science.gov (United States)

    Wasielewski, Marijke; Out, Astrid A; Vermeulen, Joyce; Nielsen, Maartje; van den Ouweland, Ans; Tops, Carli M J; Wijnen, Juul T; Vasen, Hans F A; Weiss, Marjan M; Klijn, Jan G M; Devilee, Peter; Hes, Frederik J; Schutte, Mieke

    2010-12-01

    Homozygous and compound heterozygous MUTYH mutations predispose for MUTYH-associated polyposis (MAP). The clinical phenotype of MAP is characterised by the multiple colorectal adenomas and colorectal carcinoma. We previously found that female MAP patients may also have an increased risk for breast cancer. Yet, the involvement of MUTYH mutations in families with both breast cancer and colorectal cancer is unclear. Here, we have genotyped the MUTYH p.Tyr179Cys, p.Gly396Asp and p.Pro405Leu founder mutations in 153 Dutch families with breast cancer patients and colorectal cancer patients. Families were classified as polyposis, revised Amsterdam criteria positive (FCRC-AMS positive), revised Amsterdam criteria negative (FCRC-AMS negative), hereditary breast and colorectal cancer (HBCC) and non-HBCC breast cancer families. As anticipated, biallelic MUTYH mutations were identified among 13% of 15 polyposis families, which was significantly increased compared to the absence of biallelic MUTYH mutations in the population (P = 0.0001). Importantly, six heterozygous MUTYH mutations were identified among non-polyposis families with breast and colorectal cancer. These mutations were identified specifically in FCRC-AMS negative and in HBCC breast cancer families (11% of 28 families and 4% of 74 families, respectively; P = 0.02 for both groups combined vs. controls). Importantly, the 11% MUTYH frequency among FCRC-AMS negative families was almost fivefold higher than the reported frequencies for FCRC-AMS negative families unselected for the presence of breast cancer patients (P = 0.03). Together, our results indicate that heterozygous MUTYH mutations are associated with families that include both breast cancer patients and colorectal cancer patients, independent of which tumour type is more prevalent in the family.

  4. The impact of cancer in women on the family.

    Science.gov (United States)

    Northouse, L L

    1995-01-01

    Using a family-stress framework, this paper analyzes the psychosocial impact of a woman's cancer on her family. More specifically, this paper explores the emotional distress that spouses and children of patients with breast cancer experience and discusses the role changes that are reported over time. Factors that put certain women and their family members at high risk of poorer adjustment to the woman's cancer also are identified. Finally, directions for future research and the implications of the research for clinical practice are discussed.

  5. Unfinished Business in Families of Terminally Ill with Cancer Patients.

    Science.gov (United States)

    Yamashita, Ryoko; Arao, Harue; Takao, Ayumi; Masutani, Eiko; Morita, Tatsuya; Shima, Yasuo; Kizawa, Yoshiyuki; Tsuneto, Satoru; Aoyama, Maho; Miyashita, Mitsunori

    2017-08-11

    Unfinished business often causes psychological issues after bereavement. Providing care for families of terminally ill patients with cancer to prevent unfinished business is important. To clarify the prevalence and types of unfinished business in families of end-of-life patients with cancer admitted to palliative care units (PCUs), explore depression and grief associated with unfinished business, and explore the factors affecting unfinished business. We conducted a cross-sectional, anonymous, self-report questionnaire survey with 967 bereaved families of patients with cancer admitted to PCUs. The questionnaire assessed the presence/absence of unfinished business, content of unfinished business, depression, grief, process of preparedness, condition of the family and patient, and the degree of involvement of healthcare professionals. Questionnaires were sent to 967 families and 73.0% responded. In total, 26% of families had some unfinished business, with improvement of the patient-family relationship being a common type of unfinished business. Families with unfinished business had significantly higher depression and grief scores after bereavement compared with those without. Factors that influenced the presence/absence of unfinished business were preparedness for the patient's death (p=.001); discussion between the patient and family about the disease trajectory and way to spend daily life (pbusiness. Healthcare professionals should coordinate the appropriate timing for what the family wishes to do, with consideration of family dynamics including the family's preparedness, communication pattern, and relationships. Copyright © 2017. Published by Elsevier Inc.

  6. Using a family systems approach to investigate cancer risk communication within melanoma families.

    Science.gov (United States)

    Harris, Julie N; Hay, Jennifer; Kuniyuki, Alan; Asgari, Maryam M; Press, Nancy; Bowen, Deborah J

    2010-10-01

    The family provides an important communication nexus for information and support exchange about family cancer history, and adoption of family-wide cancer risk reduction strategies. The goals of this study were to (1) use the family systems theory to identify characteristics of this sample of families at increased risk of developing melanoma and (2) to relate familial characteristics to the frequency and style of familial risk communication. Participants were first-degree relatives (n=313) of melanoma patients, recruited into a family web-based intervention study. We used multivariable logistic regression models to analyze the association between family functioning and family communication. Most participants were female (60%), with an average age of 51 years. Fifty percent of participants reported that they spoke to their relatives about melanoma risk and people were more likely to speak to their female family members. Familial adaptation, cohesion, coping, and health beliefs were strongly associated with an open style of risk communication within families. None were associated with a blocked style of risk communication. Only cohesion and adaptation were associated with the amount of risk communication that occurred within families. Overall, individuals who came from families that were more highly cohesive, adaptable, and shared strong beliefs about melanoma risk were more likely to communicate openly about melanoma. The fact that this association was not consistent across blocked communication and communication frequency highlights the multifaceted nature of this process. Future research should focus on the interplay between different facets of communication. Copyright © 2010 John Wiley & Sons, Ltd.

  7. Establishing a family risk assessment clinic for breast cancer.

    LENUS (Irish Health Repository)

    Mulsow, Jurgen

    2012-02-01

    Breast cancer is the most common cancer affecting European women and the leading cause of cancer-related death. A total of 15-20% of women who develop breast cancer have a family history and 5-10% a true genetic predisposition. The identification and screening of women at increased risk may allow early detection of breast cancer and improve prognosis. We established a family risk assessment clinic in May 2005 to assess and counsel women with a family history of breast cancer, to initiate surveillance, and to offer risk-reducing strategies for selected high-risk patients. Patients at medium or high risk of developing breast cancer according to NICE guidelines were accepted. Family history was determined by structured questionnaire and interview. Lifetime risk of developing breast cancer was calculated using Claus and Tyrer-Cuzick scoring. Risk of carrying a breast cancer-related gene mutation was calculated using the Manchester system. One thousand two hundred and forty-three patients have been referred. Ninety-two percent were at medium or high risk of developing breast cancer. Formal assessment of risk has been performed in 368 patients, 73% have a high lifetime risk of developing breast cancer, and 72% a Manchester score >or=16. BRCA1\\/2 mutations have been identified in 14 patients and breast cancer diagnosed in two. Our initial experience of family risk assessment has shown there to be a significant demand for this service. Identification of patients at increased risk of developing breast cancer allows us to provide individuals with accurate risk profiles, and enables patients to make informed choices regarding their follow-up and management.

  8. Genetic Counseling and Evaluation for BRCA1/2 Testing

    Science.gov (United States)

    ... certain other cancers or cancer in both breasts, ancestry, and family health history of breast, ovarian, and ... mutations, so genetic testing will not help most women with a family health history of breast and ...

  9. Family history of cancer and risk of colorectal cancer in Italy.

    OpenAIRE

    Negri, E; Braga, C.; La Vecchia, C.; Franceschi, S; Filiberti, R.; Montella, M; Falcini, F; Conti, E.; Talamini, R

    1998-01-01

    Subjects with a family history of colorectal cancer (CRC) are at increased risk of CRC, but quantification of the risk in different populations, the possible differences in risk according to localization of the cancer and the association of family history of other cancers with CRC risk are still open issues. We have therefore analysed data from a multicentric case-control study conducted in six Italian areas between 1992 and 1996 of 1225 incident cases of colon cancer, 728 cases of rectal can...

  10. Familial Renal Cancer: Molecular Genetics and Surgical Management

    Directory of Open Access Journals (Sweden)

    Glen W. Barrisford

    2011-01-01

    Full Text Available Familial renal cancer (FRC is a heterogeneous disorder comprised of a variety of subtypes. Each subtype is known to have unique histologic features, genetic alterations, and response to therapy. Through the study of families affected by hereditary forms of kidney cancer, insights into the genetic basis of this disease have been identified. This has resulted in the elucidation of a number of kidney cancer gene pathways. Study of these pathways has led to the development of novel targeted molecular treatments for patients affected by systemic disease. As a result, the treatments for families affected by von Hippel-Lindau (VHL, hereditary papillary renal carcinoma (HPRC, hereditary leiomyomatosis renal cell carcinoma (HLRCC, and Birt-Hogg-Dubé (BHD are rapidly changing. We review the genetics and contemporary surgical management of familial forms of kidney cancer.

  11. Aging Families and Breast Cancer: Multi-generational Issues

    National Research Council Canada - National Science Library

    Raveis, Victoria

    2002-01-01

    With the continuing shift of cancer care to community-based care the necessity to develop programs that enable the family to meet patients' needs for support and assistance is of paramount importance...

  12. Suffering Among the Families of Cancer Patients : Conceptual Analysis

    OpenAIRE

    Seyama, Ruka; Kanda, Kiyoko

    2008-01-01

    We clarified the construct of the suffering among the families of cancer patients based on domestic and overseas studies that had been announced up to now as original article. Referencing Walker’s concept analysis, we extracted the concept of suffering by looking at the general uses of the word “suffering”, suffering as viewed in psychology and studies on the suffering of families of cancer patients. We found that such, suffering consisted of two constructs unpleasant psychological pain and u...

  13. Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.

    Science.gov (United States)

    Dommering, Charlotte J; Henneman, Lidewij; van der Hout, Annemarie H; Jonker, Marianne A; Tops, Carli M J; van den Ouweland, Ans M W; van der Luijt, Rob B; Mensenkamp, Arjen R; Hogervorst, Frans B L; Redeker, Egbert J W; de Die-Smulders, Christine E M; Moll, Annette C; Meijers-Heijboer, Hanne

    2017-04-01

    Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families. Of 187 families with a known Rb-gene mutation, 22 had performed PND (11.8%), this was significantly higher than uptake for FAP (1.6%) and HBOC (cancer syndromes PND started 10-15 years after the introduction and uptake for PND showed an increase after 2009. We conclude that uptake of PND for Rb was significantly higher than for FAP and HBOC, but not different from VHL and LFS. Early onset, high penetrance, lack of preventive surgery and perceived burden of disease may explain these differences.

  14. Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing

    OpenAIRE

    Yeong C Kim; Soliman, Amr S; Cui, Jian; Ramadan, Mohamed; Hablas, Ahmed; Abouelhoda, Mohamed; Hussien, Nehal; Ahmed, Ola; Zekri, Abdel-Rahman Nabawy; Seifeldin, Ibrahim A.; Wang, San Ming

    2017-01-01

    Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using this existing information as the sole reference to judge the predisposition in non-Western populations is not adequate and can potentially lead to misdiagnosis. Efforts are required to collect geneti...

  15. Family history in breast cancer is not a prognostic factor?

    NARCIS (Netherlands)

    Jobsen, J.J.; Meerwaldt, J.H.; van der Palen, Jacobus Adrianus Maria

    2000-01-01

    The aim of this study is to determine if breast conservative treatment is justified for patients with a positive family history of breast cancer and to investigate whether they have a worse prognosis. We performed a prospective cohort study of breast cancer patients, treated with breast conservative

  16. Role of chance in familial aggregaton of colorectal cancer

    DEFF Research Database (Denmark)

    Katballe, N.; Bentzen, S.M.; Christensen, M.

    2001-01-01

    A prospective population-based study recorded family trees of 77 colorectal cancer patients younger than 50 years of age. Using mathematical modeling of population age-incidence data, we estimate that 1 (95% confidence limits 0 and 3) of these families is expected to meet the Amsterdam criteria I...

  17. Linkage analysis in familial non-Lynch syndrome colorectal cancer families from Sweden.

    Directory of Open Access Journals (Sweden)

    Vinaykumar Kontham

    Full Text Available Family history is a major risk factor for colorectal cancer and many families segregate the disease as a seemingly monogenic trait. A minority of familial colorectal cancer could be explained by known monogenic genes and genetic loci. Familial polyposis and Lynch syndrome are two syndromes where the predisposing genes are known but numerous families have been tested without finding the predisposing gene. We performed a genome wide linkage analysis in 121 colorectal families with an increased risk of colorectal cancer. The families were ascertained from the department of clinical genetics at the Karolinska University Hospital in Stockholm, Sweden and were considered negative for Familial Polyposis and Lynch syndrome. In total 600 subjects were genotyped using single nucleotide polymorphism array chips. Parametric- and non-parametric linkage analyses were computed using MERLIN in all and subsets of families. No statistically significant result was seen, however, there were suggestive positive HLODs above two in parametric linkage analysis. This was observed in a recessive model for high-risk families, at locus 9q31.1 (HLOD=2.2, rs1338121 and for moderate-risk families, at locus Xp22.33 (LOD=2.2 and HLOD=2.5, rs2306737. Using families with early-onset, recessive analysis suggested one locus on 4p16.3 (LOD=2.2, rs920683 and one on 17p13.2 (LOD/HLOD=2.0, rs884250. No NPL score above two was seen for any of the families. Our linkage study provided additional support for the previously suggested region on chromosome 9 and suggested additional loci to be involved in colorectal cancer risk. Sequencing of genes in the regions will be done in future studies.

  18. Linkage analysis in familial non-Lynch syndrome colorectal cancer families from Sweden.

    Science.gov (United States)

    Kontham, Vinaykumar; von Holst, Susanna; Lindblom, Annika

    2013-01-01

    Family history is a major risk factor for colorectal cancer and many families segregate the disease as a seemingly monogenic trait. A minority of familial colorectal cancer could be explained by known monogenic genes and genetic loci. Familial polyposis and Lynch syndrome are two syndromes where the predisposing genes are known but numerous families have been tested without finding the predisposing gene. We performed a genome wide linkage analysis in 121 colorectal families with an increased risk of colorectal cancer. The families were ascertained from the department of clinical genetics at the Karolinska University Hospital in Stockholm, Sweden and were considered negative for Familial Polyposis and Lynch syndrome. In total 600 subjects were genotyped using single nucleotide polymorphism array chips. Parametric- and non-parametric linkage analyses were computed using MERLIN in all and subsets of families. No statistically significant result was seen, however, there were suggestive positive HLODs above two in parametric linkage analysis. This was observed in a recessive model for high-risk families, at locus 9q31.1 (HLOD=2.2, rs1338121) and for moderate-risk families, at locus Xp22.33 (LOD=2.2 and HLOD=2.5, rs2306737). Using families with early-onset, recessive analysis suggested one locus on 4p16.3 (LOD=2.2, rs920683) and one on 17p13.2 (LOD/HLOD=2.0, rs884250). No NPL score above two was seen for any of the families. Our linkage study provided additional support for the previously suggested region on chromosome 9 and suggested additional loci to be involved in colorectal cancer risk. Sequencing of genes in the regions will be done in future studies.

  19. Family cancer history affecting risk of colorectal cancer in a prospective cohort of Chinese women.

    Science.gov (United States)

    Murphy, Gwen; Shu, Xiao-Ou; Gao, Yu-Tang; Ji, Bu-Tian; Cook, Michael Blaise; Yang, Gong; Li, Hong Lan; Rothman, Nathaniel; Zheng, Wei; Chow, Wong-Ho

    2009-10-01

    An elevated risk of colorectal cancer has been associated with sporadic colorectal cancer in first-degree relatives, mostly in Western populations. Limited data exist from traditionally low-risk areas, such as Asia, where the prevalence of risk factors may differ. We examined the association of family history of cancer and subsequent colorectal cancer risk in a cohort of traditionally low-risk Chinese women. We followed 73,358 women in the Shanghai Women's Health Study for cancer incidence until December 2005. After an average of 7 years of follow-up, 391 women were diagnosed with colorectal cancer. We calculated hazard ratios and 95% confidence intervals using Cox proportional hazards models adjusted for age, smoking, family income, education, body mass index, physical activity, and history of diabetes. We observed a significant association between colorectal cancer risk and history of a parent being diagnosed with colorectal cancer (hazard ratio: 3.34; 95% confidence interval: 1.58, 7.06). No association was observed for colorectal cancer diagnosed among siblings. Colorectal cancer risk was not influenced by a positive family history of cancer generally or any of the other cancers investigated (lung, breast, prostate, gastric, esophageal, endometrial, ovarian, urinary tract, central nervous system, and small bowel). Our cohort results suggest that consistent with findings from Western populations, having a family history of colorectal cancer may influence colorectal cancer risk to a similar extent in a low-risk population.

  20. Psychologic consequences of breast cancer on partner and family.

    Science.gov (United States)

    Northouse, L L; Cracchiolo-Caraway, A; Appel, C P

    1991-08-01

    Breast cancer can have psychologic consequences not only for patients but also for the entire family system. Research indicates a major impact on the husband, the marital relationship, the children, and family roles and responsibilities. Greater attention needs to be given to the family members to ensure that they get the support they need, and to enable them to maintain their supportive roles with the patient.

  1. Liposomal daunorubicin overcomes drug resistance in human breast, ovarian and lung carcinoma cells.

    Science.gov (United States)

    Sadava, David; Coleman, Aaron; Kane, Susan E

    2002-11-01

    Multi-drug resistance due in part to membrane pumps such as P-glycoprotein (Pgp) is a major clinical problem in human cancers. We tested the ability of liposomally-encapsulated daunorubicin (DR) to overcome resistance to this drug. A widely used breast carcinoma cell line originally selected for resistance in doxorubicin (MCF7ADR) was 4-fold resistant to DR compared to the parent MCF7 cells (IC50 79 nM vs. 20 nM). Ovarian carcinoma cells (SKOV3) were made resistant by retroviral transduction of MDR1 cDNA and selection in vinblastine. The resulting SKOV3MGP1 cells were 130-fold resistant to DR compared to parent cells (IC50 5700 nM vs. 44 nM). Small-cell lung carcinoma cells (H69VP) originally selected for resistance to etoposide were 6-fold resistant to DR compared to H69 parent cells (IC50 180 nM vs. 30 nM). In all three cases, encapsulation of DR in liposomes as Daunoxome (Gilead) did not change the IC50 of parent cells relative to free DR. However, liposomal DR overcame resistance in MCF7ADR breast carcinoma cells (IC50 20 nM), SKOV3MGP1 ovarian carcinoma cells (IC50 237 nM) and H69VP small-cell lung carcinoma cells (IC50 27 nM). Empty liposomes did not affect the IC50 for free DR in the three resistant cell lines, nor did empty liposomes affect the IC50 for other drugs that are part of the multi-drug resistance phenotype (etoposide, vincristine) in lung carcinoma cells. These data indicate the possible value of liposomal DR in overcoming Pgp-mediated drug resistance in human cancer.

  2. Cancer in the Family: Review of the Psychosocial Perspectives of Patients and Family Members

    Science.gov (United States)

    Mitschke, Diane B.

    2008-01-01

    As advances in cancer care have led to more treatment options and longer survival for cancer patients, a focus on quality of life for patients and their families has gained importance. This review provides a discussion of stress and coping theory, documents the relevance of this topic area for social work practice, and illuminates the results of a…

  3. Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family.

    Directory of Open Access Journals (Sweden)

    Laufey T Amundadottir

    2004-12-01

    Full Text Available BACKGROUND: The contribution of low-penetrant susceptibility variants to cancer is not clear. With the aim of searching for genetic factors that contribute to cancer at one or more sites in the body, we have analyzed familial aggregation of cancer in extended families based on all cancer cases diagnosed in Iceland over almost half a century. METHODS AND FINDINGS: We have estimated risk ratios (RRs of cancer for first- and up to fifth-degree relatives both within and between all types of cancers diagnosed in Iceland from 1955 to 2002 by linking patient information from the Icelandic Cancer Registry to an extensive genealogical database, containing all living Icelanders and most of their ancestors since the settlement of Iceland. We evaluated the significance of the familial clustering for each relationship separately, all relationships combined (first- to fifth-degree relatives and for close (first- and second-degree and distant (third- to fifth-degree relatives. Most cancer sites demonstrate a significantly increased RR for the same cancer, beyond the nuclear family. Significantly increased familial clustering between different cancer sites is also documented in both close and distant relatives. Some of these associations have been suggested previously but others not. CONCLUSION: We conclude that genetic factors are involved in the etiology of many cancers and that these factors are in some cases shared by different cancer sites. However, a significantly increased RR conferred upon mates of patients with cancer at some sites indicates that shared environment or nonrandom mating for certain risk factors also play a role in the familial clustering of cancer. Our results indicate that cancer is a complex, often non-site-specific disease for which increased risk extends beyond the nuclear family.

  4. Common cancers share familial susceptibility: implications for cancer genetics and counselling.

    Science.gov (United States)

    Yu, Hongyao; Frank, Christoph; Sundquist, Jan; Hemminki, Akseli; Hemminki, Kari

    2017-04-01

    It has been proposed that cancer is more common in some families than in others, but the hypothesis lacks population level support. We use a novel approach by studying any cancers in large three-generation families and thus are able to find risks even though penetrance is low. Individuals in the nation-wide Swedish Family-Cancer Database were organised in three generations and the relative risk (RR) of cancer was calculated to the persons in the third generation by the numbers of patients with cancer in generations 1, 2 and 3. The RRs for any cancer in generation 3 increased by the numbers of affected relatives, reaching 1.61 when at least seven relatives were diagnosed. The median patient had two affected relatives, and 7.0% had five or more affected relatives with an RR of 1.46, which translated to an absolute risk of 21.5% compared with 14.7% in population by age 65 years. For prostate cancer, the RR was 2.85 with four or more affected family members with any cancer, and it increased to 14.42 with four or more concordant cancers in family members. RRs for prostate cancer were approximately equal (2.70 vs 2.85) if a man had one relative with prostate cancer or four or more relatives diagnosed with any cancer. A strong family history of cancer, regardless of tumour type, increases cancer risk of family members and calls for mechanistic explanations. Our data provide tools for counselling of patients with cancer with both low and high familiar risks. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  5. Family history of various cancers and pancreatic cancer mortality in a large cohort.

    Science.gov (United States)

    Jacobs, Eric J; Rodriguez, Carmen; Newton, Christina C; Bain, Elizabeth B; Patel, Alpa V; Feigelson, Heather Spencer; Thun, Michael J; Calle, Eugenia E

    2009-10-01

    A family history of pancreatic cancer is associated with increased risk of pancreatic cancer, but uncertainty remains about the magnitude of this association, whether it varies by age or smoking and whether a family history of other cancers may also be associated with increased risk. We examined family history of 14 cancers and pancreatic cancer mortality among ~1.1 million men and women in Cancer Prevention Study-II (CPS-II). CPS-II participants completed a questionnaire at enrollment in 1982. During follow-up through 2006, there were 7,306 pancreatic cancer deaths. A family history of pancreatic cancer in a parent or sibling was associated with pancreatic cancer mortality [multivariable adjusted rate ratio (RR) = 1.66, 95% confidence interval (CI) 1.43-1.94]. This association was stronger among participants aged under 60 (RR = 2.89, 95% CI 1.67-5.02) than among participants aged 60 or older (RR = 1.61, 95% CI 1.37-1.88). Weaker associations were observed for family history of stomach cancer (RR = 1.23, 95% CI 1.11-1.37), liver cancer (RR = 1.25, 95% CI 1.10-1.43), and colorectal cancer (RR = 1.12, 95% CI 1.01-1.23). Results from this large prospective study indicate family history of pancreatic cancer is associated with a moderate increase in risk of pancreatic cancer, and also identify associations with the family history of certain other cancers which may be useful in generating hypotheses about shared risk factors.

  6. Association of family history with cancer recurrence and survival among patients with stage III colon cancer.

    Science.gov (United States)

    Chan, Jennifer A; Meyerhardt, Jeffrey A; Niedzwiecki, Donna; Hollis, Donna; Saltz, Leonard B; Mayer, Robert J; Thomas, James; Schaefer, Paul; Whittom, Renaud; Hantel, Alexander; Goldberg, Richard M; Warren, Robert S; Bertagnolli, Monica; Fuchs, Charles S

    2008-06-04

    A family history of colorectal cancer in a first-degree relative increases the risk of developing colorectal cancer. However, the influence of family history on cancer recurrence and survival among patients with established disease remains uncertain. To examine the association of family history of colorectal cancer with cancer recurrence and survival of patients with colon cancer. Prospective observational study of 1087 patients with stage III colon cancer enrolled in a randomized adjuvant chemotherapy trial (CALGB 89803) between April 1999 and May 2001. Patients provided data on family history at baseline and were followed up until March 2007 for disease recurrence and death (median follow-up, 5.6 years). In a subset of patients, we assessed microsatellite instability (MSI) and expression of the mismatch repair (MMR) proteins MLH1 and MSH2 in tumor specimens. Disease-free survival, recurrence-free survival, and overall survival according to the presence or absence of a family history of colorectal cancer. Among 1087 eligible patients, 195 (17.9%) reported a family history of colorectal cancer in a first-degree relative. Cancer recurrence or death occurred in 57 of 195 patients (29%; 95% confidence interval [CI], 23%-36%) with a family history of colorectal cancer and 343 of 892 patients (38%; 95% CI, 35%-42%) without a family history. Compared with patients without a family history, the adjusted hazard ratios (HRs) among those with 1 or more affected first-degree relatives were 0.72 (95% CI, 0.54-0.96) for disease-free survival, 0.74 (95% CI, 0.55-0.99) for recurrence-free survival, and 0.75 (95% CI, 0.54-1.05) for overall survival. This reduction in risk of cancer recurrence or death associated with a family history became stronger with an increasing number of affected first-degree relatives. Compared with participants without a family history of colorectal cancer, those with 1 affected relative had a multivariate HR of 0.77 (95% CI, 0.57-1.04) for disease

  7. The challenge of quality cancer care for family caregivers.

    Science.gov (United States)

    Given, Barbara A; Given, Charles W; Sherwood, Paula

    2012-11-01

    To provide an overview of the factors that challenge family caregivers of patients with cancer and review issues related to the role of family members as caregivers. Research based and other articles and reports from the government and professional groups. There are many challenges for family caregivers of cancer patients. Nurses must be sensitive to the unmet needs of caregivers and provide the support they need to provide patient care. Health policy is needed to provide support to these caregivers. Nurses must take a leadership role to provide standards, guidelines, and best practices for support of the caregiver. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Family Support and Colorectal Cancer Screening among Urban African Americans.

    Science.gov (United States)

    Brittain, Kelly; Taylor, Jacquelyn Y; Loveland-Cherry, Carol; Northouse, Laurel; Caldwell, Cleopatra H

    2012-07-01

    Colorectal cancer (CRC) is the third leading cause of cancer death among African Americans. Less than 50% of African Americans have had CRC screening. This study examined the relationships between family support and influence, cultural identity, CRC beliefs, and a screening informed decision among 129 urban African Americans. Family support (p < .01) significantly predicted CRC beliefs and CRC beliefs significantly predicted informed decision (p < .01). Based on study results, practitioners should routinely assess family support and CRC beliefs with African Americans patients. This may improve patient-provider shared decision-making satisfaction and CRC screening adherence among African American patients.

  9. Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas

    NARCIS (Netherlands)

    F. Harinck (Femme); I. Kluijt (Irma); N. van der Stoep (Nienke); R.A. Oldenburg (Rogier); A. Wagner (Anja); C.M. Aalfs (Cora); R.H. Sijmons (Rolf); J.-W. Poley (Jan-Werner); E.J. Kuipers (Ernst); P. Fockens (Paul); T.A.M. van Os (Theo); M.J. Bruno (Marco)

    2012-01-01

    textabstractBackground: CDKN2A-mutation carriers run a high risk of developing melanomas and have an increased risk of developing pancreatic cancer (PC). Familial PC (FPC) patients with a personal history or family history of melanomas are therefore offered CDKN2A-mutation analysis. In contrast,

  10. Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas

    NARCIS (Netherlands)

    Harinck, Femme; Kluijt, Irma; van der Stoep, Nienke; Oldenburg, Rogier A.; Wagner, Anja; Aalfs, Cora M.; Sijmons, Rolf H.; Poley, Jan-Werner; Kuipers, Ernst J.; Fockens, Paul; van Os, Theo A. M.; Bruno, Marco J.

    Background CDKN2A-mutation carriers run a high risk of developing melanomas and have an increased risk of developing pancreatic cancer (PC). Familial PC (FPC) patients with a personal history or family history of melanomas are therefore offered CDKN2A-mutation analysis. In contrast, CDKN2A testing

  11. Family Caregivers to Adults with Cancer: The Consequences of Caring.

    Science.gov (United States)

    Williams, Anna-Leila

    2018-01-01

    A person living with cancer will potentially have some degree of physical, cognitive, and/or psychological impairment, periods of unemployment, financial concerns, social isolation, and existential questions, any or all of which can impact the family and friends who surround them. In our current era of health care, patients with cancer receive invasive diagnostic studies and aggressive treatment as outpatients, and then convalesce at home. As such, cancer family caregivers are de facto partners with the healthcare team. The cancer family caregiver role is demanding and may lead to increased morbidity and mortality-in effect, the cancer family caregiver can become a second patient in need of care. This chapter discusses the consequences cancer family caregivers may accrue. The topics covered include caregiver mood disturbance and psychological impairment and some of the mutable factors that contribute to these states (i.e., sleep disturbance, decline in physical health, restriction of activities, and financial concerns), uncertainty, spiritual concerns, and caregiver witnessing. There is a discussion of the factors that influence the caregiving experience (caregiver characteristics, patient characteristics, and social supports). The chapter concludes with comments on intervention studies that have been conducted to ameliorate the burden of caregiving, and the state of caregiver research.

  12. Familial gastric cancer and Li-Fraumeni syndrome.

    Science.gov (United States)

    Corso, G; Pedrazzani, C; Marrelli, D; Pinto, E; Roviello, F

    2010-05-01

    Gastric cancer occurs in some familial diseases with inherited cancer predisposition. Genetic factors have been correlated with the hereditary diffuse gastric cancer and other familial gastric cancer conditions as hereditary non-polyposis colorectal cancer and Li-Fraumeni syndrome. The present study was aimed at searching for germ line mutations of TP53 gene in familial gastric cancer with cluster for Li-Fraumeni syndrome or Li-Fraumeni-like syndrome. Twenty-three pedigrees with characteristics for Li-Fraumeni-like syndrome were identified. DNA of the proband was sequenced using polymerase chain reaction/single-strand conformation polymorphism. Among these 23 cases, no germ line mutation of TP53 was identified, while two single-nucleotide polymorphisms were identified in four patients. In our area, in which a high rate of familial aggregation was demonstrated, the lack of germ line mutation of TP53 together with the infrequency of mutation of E-cadherin gene seem to limit the role of genetic predisposition in the development of gastric cancer.

  13. Association between documented family history of cancer and screening for breast and colorectal cancer.

    Science.gov (United States)

    Carney, Patricia A; O'Malley, Jean P; Gough, Andrea; Buckley, David I; Wallace, James; Fagnan, Lyle J; Morris, Cynthia; Mori, Motomi; Heintzman, John D; Lieberman, David

    2013-11-01

    Previous research on ascertainment of cancer family history and cancer screening has been conducted in urban settings. To examine whether documented family history of breast or colorectal cancer is associated with breast or colorectal cancer screening. Medical record reviews were conducted on 3433 patients aged 55 and older from four primary care practices in two rural Oregon communities. Data collected included patient demographic and risk information, including any documentation of family history of breast or colorectal cancer, and receipt of screening for these cancers. A positive breast cancer family history was associated with an increased likelihood of being up-to-date for mammography screening (OR 2.09, 95% CI 1.45-3.00 relative to a recorded negative history). A positive family history for colorectal cancer was associated with an increased likelihood of being up-to-date with colorectal cancer screening according to U.S. Preventive Services Task Force low risk guidelines for males (OR 2.89, 95% CI 1.15-7.29) and females (OR 2.47, 95% CI 1.32-4.64) relative to a recorded negative family history. The absence of any recorded family cancer history was associated with a decreased likelihood of being up-to-date for mammography screening (OR 0.70, 95% CI 0.56-0.88 relative to recorded negative history) or for colorectal cancer screening (OR 0.75, 95% CI 0.60-0.96 in females, OR 0.68, 95% CI 0.53-0.88 in males relative to recorded negative history). Further research is needed to determine if establishing routines to document family history of cancer would improve appropriate use of cancer screening. © 2013.

  14. Race and colorectal cancer screening compliance among persons with a family history of cancer.

    Science.gov (United States)

    Laiyemo, Adeyinka O; Thompson, Nicole; Williams, Carla D; Idowu, Kolapo A; Bull-Henry, Kathy; Sherif, Zaki A; Lee, Edward L; Brim, Hassan; Ashktorab, Hassan; Platz, Elizabeth A; Smoot, Duane T

    2015-12-10

    To determine compliance to colorectal cancer (CRC) screening guidelines among persons with a family history of any type of cancer and investigate racial differences in screening compliance. We used the 2007 Health Information National Trends Survey and identified 1094 (27.4%) respondents (weighted population size = 21959672) without a family history of cancer and 3138 (72.6%) respondents (weighted population size = 58201479) with a family history of cancer who were 50 years and older. We defined compliance with CRC screening as the use of fecal occult blood testing within 1 year, sigmoidoscopy within 5 years, or colonoscopy within 10 years. We compared compliance with CRC screening among those with and without a family member with a history of cancer. Overall, those with a family member with cancer were more likely to be compliant with CRC screening (64.9% vs 55.1%; OR = 1.45; 95%CI: 1.20-1.74). The absolute increase in screening rates associated with family history of cancer was 8.2% among whites. Hispanics had lowest screening rates among those without family history of cancer 41.9% but had highest absolute increase (14.7%) in CRC screening rate when they have a family member with cancer. Blacks had the lowest absolute increase in CRC screening (5.3%) when a family member has a known history of cancer. However, the noted increase in screening rates among blacks and Hispanics when they have a family member with cancer were not higher than whites without a family history of cancer: (54.5% vs 58.7%; OR = 1.16; 95%CI: 0.72-1.88) for blacks and (56.7% vs 58.7%; OR = 1.25; 95%CI: 0.72-2.18) for Hispanics. While adults with a family history of any cancer were more likely to be compliant with CRC screening guidelines irrespective of race/ethnicity, blacks and Hispanics with a family history of cancer were less likely to be compliant than whites without a family history. Increased burden from CRC among blacks may be related to poor uptake of screening among high

  15. Prospective cohort studies of association between family history of liver cancer and risk of liver cancer.

    Science.gov (United States)

    Yang, Yang; Wu, Qi-Jun; Xie, Li; Chow, Wong-Ho; Rothman, Nat; Li, Hong-Lan; Gao, Yu-Tang; Zheng, Wei; Shu, Xiao-Ou; Xiang, Yong-Bing

    2014-10-01

    Uncertainty remains on the relationship between a family history of liver cancer and liver cancer risk in prospective cohort studies in a general population. Thus, we examined this association in 133,014 participants in the Shanghai Women's and Men's Health Studies. Family history of liver cancer was categorized through dichotomous and proportional score approaches. Hazard ratios (HRs) and 95% confidence intervals (CIs) were derived using the Cox proportional hazards models with adjustment for potential confounders. A meta-analysis of observational studies through December 2013 on liver cancer risk in relation to family history of liver cancer was also performed. Study-specific risk estimates were combined using fixed or random effects models depending on whether significant heterogeneity was detected. For the Shanghai Women's and Men's Health Studies, 299 liver cancer cases were identified during follow-up through 2010. Family history of liver cancer was associated with liver cancer risk using both binary indicator (HR = 2.60, 95% CI: 1.77-3.80) and proportional score (high-risk vs. minimal-risk category: HR = 3.03, 95% CI: 1.73-5.31), with increasing HRs for increasing score categories. The meta-analysis also showed an increased risk for those with a family history of liver cancer (relative risk = 2.55, 95% CI: 2.05-3.16). Family history of liver cancer was related to increased risk of liver cancer in Chinese population. This risk is particularly high for those with an affected mother. The "dose-response" of risk with an increasing family history score of liver cancer might further facilitate future cancer prevention programs on identifying individuals with the highest potential liver cancer risk. © 2014 UICC.

  16. Familial breast cancer in Costa Rica: an initial approach.

    Science.gov (United States)

    Ramírez Monge, Adriana; Gutiérrez-Espeleta, Gustavo A; Loáiciga Vega, Kenneth

    2004-09-01

    Cancer is a worldwide problem because of its high rates of incidence and associated mortality. By 2000, more than 6.2 million people died from this illness worldwide. Among all types of cancer, breast cancer is one of the most studied. Each year, one million new cases are diagnosed around the world. We can classify breast cancer into two main kinds: sporadic cases and those which are a product of inherited genetic alterations. Approximately 5-10% of breast cancer cases are the result of inherited mutations, or alterations in breast cancer susceptibility genes, BRCA1 and BRCA2. Like other countries, Costa Rica possesses high rates of incidence and mortality for breast cancer. According to the "Registro Nacional de Tumores" (National Office of Tumor Records), in 2000 breast cancer had the highest rate of incidence and in 2002 it had the highest rate of mortality in comparison to other types of cancer. For this reason and the generalized lack of knowledge in the field we conducted an epidemiological research on breast cancer patients from Hospital San Juan de Dios, San José, Costa Rica, to find families with a history of breast cancer, and to determine the occurrence of familial cases within the population studied. So far, we have found 23 families, within which we discovered very informative cases that have rendered the identification of a pattern of inheritance. These findings allow us to announce that in Costa Rica there are several cases of inherited breast cancer and that we need more research is needed to improve the prevention, control, and treatment of this disease.

  17. One case of endometrial cancer occurrence: Over 10 years after colon cancer in Lynch family.

    Science.gov (United States)

    Lee, Jee Yeon; Kim, Hyun Joo; Lee, Eun Hee; Lee, Hyoun Wook; Kim, Jong-Won; Kim, Min Kyu

    2013-11-01

    We have recently experienced an endometrial cancer 12 years after the diagnosis of colon cancer with Lynch syndrome. A 49-year-old Korean woman had a family history of colon cancer. Her mother had colon cancer at 56-year-old, and her brother had colon cancer at 48 years old. The patient received surgery for endometrial cancer at the same hospital 12 years after being treated for colon cancer. Immunohistochemistry showed that her endometrial tissue stained negative for MSH2. A microsatellite instability test was performed and showed the presence of instability high microsatellite instability. An hMLH2 gene mutation was detected at codon 629 codon of exon 12, in which a glutamine was replaced with an arginine (1886A>G [p.Gln629Arg]). To our knowledge, this is the first case of metachronous cancer in a Lynch syndrome family in Korea with a gap of more than ten years between cancer diagnoses.

  18. Family history of venous thromboembolism and risk of hospitalized thromboembolism in cancer patients: A nationwide family study.

    Science.gov (United States)

    Zöller, Bengt; Palmer, Karolina; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina

    2015-09-01

    The importance of family history of venous thromboembolism (VTE) in cancer patients is unclear. We conducted a nationwide study to determine whether family history of VTE is a risk factor for hospitalized VTE in cancer patients. The Swedish Multi-Generation Register was linked to the Swedish Hospital Discharge Register and the Swedish Cancer Registry. Familial (sibling/parent history of VTE) hazard ratios (HRs) for VTE in 20 cancer types were determined by cause-specific Cox regression for 258877 cancer patients in 1987-2010 without previous VTE. Familial HRs were also determined in 7644203 individuals without cancer or VTE before 1987, with follow-up in 1987-2010. Significant familial HRs for VTE in cancer patients were observed for the following cancer types: cancers of the breast (HR=1.79), lung (HR=1.21), colon (HR=1.30), prostate (HR=1.46), testis (HR=2.02), nervous system (HR=1.31), stomach (HR=1.73), and rectum (HR=1.77), as well as melanoma (HR=1.71), non-Hodgkin lymphoma (HR=1.32), myeloma (HR=1.69), and leukemia (HR=1.44). In a time-dependent analysis the familial HRs for VTE were significant before diagnosis of cancer (p-values cancer the familial HRs VTE were weaker, with significant HRs for 12 cancer types. On an additive scale, the joint effect of cancer and family history was significantly increased compared to separate effects in four cancer types. However, for certain cancers the familial VTE cases were limited. Family history of VTE is a risk factor for VTE in several cancer types. However, familial factors are relatively more important in non-cancer than in cancer patients. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Resilience in families with a child with cancer.

    Science.gov (United States)

    Greeff, Abraham Petrus; Vansteenwegen, Alfons; Geldhof, Annelies

    2014-10-01

    The aim of this study was to identify and explore resilience factors associated with family adaption after a child had been diagnosed with cancer. Using a cross-sectional survey research design, parents (n = 26), and children (n = 25) from the same families independently completed six self-report questionnaires, as well as responded to an open-ended question about those qualities that helped their family through the period following the diagnosis. The most significant results came from the children's data. According to these results, connectedness within the family, the experience of control over life events, family routines, positive, and supportive communication, redefinition of crisis situations, and lastly, a passive appraisal of crisis situations, were positively linked to better family adaptation. The identified factors should be strengthened and developed in families finding themselves in a similar situation.

  20. Alcohol consumption and the risk of colon cancer by family history of colorectal cancer.

    Science.gov (United States)

    Cho, Eunyoung; Lee, Jung Eun; Rimm, Eric B; Fuchs, Charles S; Giovannucci, Edward L

    2012-02-01

    Individuals with a family history of colorectal cancer may be more susceptible to adverse effects of alcohol consumption. We investigated whether the association between alcohol consumption and colon cancer risk differed by family history of colorectal cancer. We conducted prospective studies in women and men in the Nurses' Health Study and Health Professionals Follow-Up Study, respectively. Alcohol consumption was first assessed in 1980 in women and in 1986 in men. During a follow-up of 26 y among 87,861 women and 20 y among 47,290 men, we documented 1801 cases of colon cancer (1094 women and 707 men). Higher alcohol consumption was associated with an elevated risk of colon cancer, although the association was significant only for the highest intake category of ≥30 g/d, with no significant linear trend. The association between alcohol consumption and colon cancer risk differed by family history of colorectal cancer; in comparison with nondrinkers, the pooled multivariate RRs for alcohol consumption of ≥30 g/d were 1.23 (95% CI: 0.96, 1.57; NS) among those with no family history and 2.02 (95% CI: 1.30, 3.13) among those with a family history of colorectal cancer (P value test for difference = 0.05). In comparison with nondrinkers with no family history, the RR for colon cancer was 2.80 (95% CI: 2.00, 3.91) for individuals who consumed ≥30 g/d and who had a family history of colorectal cancer. Reducing alcohol consumption may decrease the incidence of colon cancer, especially among those with a family history of colorectal cancer.

  1. BREAST AND/OR OVARIAN CANCER AS PART OF FAMILY CANCER SYNDROME

    Directory of Open Access Journals (Sweden)

    L. N. Lyubchenko

    2009-01-01

    Full Text Available The problems in the early diagnosis, primary and secondary prevention of family cancer of the breast and/or ovaries are successfully solved within medical genetic counseling at a cancer clinic. Its genetic diagnosis is confirmed, individual risks for breast and/or ovarian cancer are calculated, risk-modifying factors are studied, and treatment, family planning, and childbirth are discussed during clinicogenetic studies.

  2. Prospective cohort studies of association between family history of liver cancer and risk of liver cancer

    OpenAIRE

    Yang, Yang; Wu, Qi-Jun; Xie, Li; Chow, Wong-Ho; Rothman, Nat; Li, Hong-Lan; Gao, Yu-Tang; Zheng, Wei; Shu, Xiao-Ou; Xiang, Yong-Bing

    2014-01-01

    Uncertainty remains on the relationship between a family history of liver cancer and liver cancer risk in prospective cohort studies in a general population. Thus, we examined this association in 133,014 participants in the Shanghai Women’s and Men’s Health Studies. Family history of liver cancer was categorized through dichotomous and proportional score approaches. Hazard ratios (HRs) and 95% confidence intervals (CIs) were derived using the Cox proportional hazards models with adjustment fo...

  3. The Swedish Family-Cancer Database: Update, Application to Colorectal Cancer and Clinical Relevance

    Directory of Open Access Journals (Sweden)

    Hemminki Kari

    2005-01-01

    Full Text Available Abstract The Swedish Family-Cancer Database has been used for almost 10 years in the study of familial risks at all common sites. In the present paper we describe some main features of version VI of this Database, assembled in 2004. This update included all Swedes born in 1932 and later (offspring with their biological parents, a total of 10.5 million individuals. Cancer cases were retrieved from the Swedish Cancer Registry from 1958-2002, including over 1.2 million first and multiple primary cancers and in situ tumours. Compared to previous versions, only 6.0% of deceased offspring with a cancer diagnosis lack any parental information. We show one application of the Database in the study of familial risks in colorectal adenocarcinoma, with defined age-group and anatomic site specific analyses. Familial standardized incidence ratios (SIRs were determined for offspring when parents or sibling were diagnosed with colon or rectal cancer. As a novel finding it was shown that risks for siblings were higher than those for offspring of affected parents. The excess risk was limited to colon cancer and particularly to right-sided colon cancer. The SIRs for colon cancer in age matched populations were 2.58 when parents were probands and 3.81 when siblings were probands; for right-sided colon cancer the SIRs were 3.66 and 7.53, respectively. Thus the familial excess (SIR-1.00 was more than two fold higher for right-sided colon cancer. Colon and rectal cancers appeared to be distinguished between high-penetrant and recessive conditions that only affect the colon, whereas low-penetrant familial effects are shared by the two sites. Epidemiological studies can be used to generate clinical estimates for familial risk, conditioned on numbers of affected family members and their ages of onset. Useful risk estimates have been developed for familial breast and prostate cancers. Reliable risk estimates for other cancers should also be seriously considered for

  4. Cognitive-Behavioral Coping, Illness Perception, and Family Adaptability in Oncological Patients with a Family History of Cancer

    OpenAIRE

    Roxana Postolica; Magdalena Iorga; Florin Dumitru Petrariu; Doina Azoicai

    2017-01-01

    Aim. The study investigated the differences between patients with and without a family history of cancer regarding coping strategies, illness perception, and family adaptability to the disease. Material and Methods. A total of 124 patients diagnosed with cancer were included in the research (55 of them with a family history of cancer). The Cognitive Emotion Regulation Questionnaire, the Strategic Approach to Coping Scale, the Family Adaptability and Cohesion Scale, and the Illness Perception ...

  5. “The Cancer Bond”: Exploring the Formation of Cancer Risk Perception in Families with Lynch Syndrome

    Science.gov (United States)

    Koehly, Laura M.; Peterson, Susan K.; Shegog, Margarette; Vernon, Sally W.; Gritz, Ellen R.

    2010-01-01

    This study explores the social context of hereditary cancer risk perception in three families, an African-American family, a Mexican-American family, and a Caucasian family, each with Lynch Syndrome documented by a mismatch repair gene mutation. Communication network assessments measured family communication about cancer experiences and genetic testing information among a total of 26 participants. Participant narratives were evaluated to gain insight into how family cancer experiences and genetic testing information have shaped perceptions of cancer risk. Analysis of communication networks indicated that some families discussed cancer experiences to a greater extent than genetic testing information, and vice-versa. Interviews elucidated that sharing both types of health information led participants to conceptualize linkages among a strong family history of cancer, genetic testing information, and cancer prevention strategies. Understanding how different types of family communication influence the formation of perceived hereditary disease risk may enhance efforts to tailor genetic counseling services for families. PMID:20401527

  6. Cohorts with familial disposition for colon cancers in chemoprevention trials.

    Science.gov (United States)

    Burt, R W

    1996-01-01

    Colon cancer provides an attractive setting for chemoprevention trials because of the frequency and variation of familial predisposition that is observed in this malignancy. Additionally, the adenomatous polyp, the precursor of colon cancer, is a valuable intermediate marker for judging the effectiveness of candidate chemopreventive agents. Inherited colon cancer susceptibility varies from mild to severe. Conditions with extreme susceptibility include the autosomal dominantly inherited syndromes of familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). These are highly penetrant syndromes with extreme cancer risk. FAP arises from mutations of the APC gene and HNPCC from mutations of the mismatch repair genes. Specific and individual genetic diagnosis is now possible in both syndromes, thus allowing identification of genetically affected individuals for chemoprevention trials. FAP accounts for less than 1% of colon cancers, while HNPCC may be present in up to 5% of cases. Familial clustering is common in the remainder of cases, which are often referred to as sporadic, but probably arise in part from inherited susceptibility. Epidemiologic studies have shown that first-degree relatives have a two- to four-fold increased risk of acquiring colon cancer compared to the general population. Ten percent of individuals in the U.S. have a first-degree with colon cancer. This clinically identifiable higher risk group thus constitutes a large potential cohort for chemoprevention trials. The common familial cases of colon cancer can be further stratified by severity. A relative diagnosed under the age of 50 or two first-degree relatives affected with colon cancer confers an even greater risk for this malignancy, estimated to be four to six times that of the general population. Adenomatous polyps also precede the development of colon cancer in these categories, thereby providing a readily identifiable clinical endpoint to judge the

  7. Urological cancer related to familial syndromes

    Directory of Open Access Journals (Sweden)

    Walter Henriques da Costa

    Full Text Available ABSTRACT Cancer related to hereditary syndromes corresponds to approximately 5-10% of all tumors. Among those from the genitourinary system, many tumors had been identified to be related to genetic syndromes in the last years with the advent of new molecular genetic tests. New entities were described or better characterized, especially in kidney cancer such as hereditary leiomyomatosis renal cell carcinoma (HLRCC, succinate dehydrogenase kidney cancer (SDH-RCC, and more recently BAP1 germline mutation related RCC. Among tumors from the bladder or renal pelvis, some studies had reinforced the role of germline mutations in mismatch repair (MMR genes, especially in young patients. In prostate adenocarcinoma, besides mutations in BRCA1 and BRCA2 genes that are known to increase the incidence of high-risk cancer in young patients, new studies have shown mutation in other gene such as HOXB13 and also polymorphisms in MYC, MSMB, KLK2 and KLK3 that can be related to hereditary prostate cancer. Finally, tumors from testis that showed an increased in 8 - 10-fold in siblings and 4 - 6-fold in sons of germ cell tumors (TGCT patients, have been related to alteration in X chromosome. Also genome wide association studies GWAS pointed new genes that can also be related to increase of this susceptibility.

  8. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer.

    Science.gov (United States)

    Andersson, Ulrika; Wibom, Carl; Cederquist, Kristina; Aradottir, Steina; Borg, Ake; Armstrong, Georgina N; Shete, Sanjay; Lau, Ching C; Bainbridge, Matthew N; Claus, Elizabeth B; Barnholtz-Sloan, Jill; Lai, Rose; Il'yasova, Dora; Houlston, Richard S; Schildkraut, Joellen; Bernstein, Jonine L; Olson, Sara H; Jenkins, Robert B; Lachance, Daniel H; Wrensch, Margaret; Davis, Faith G; Merrell, Ryan; Johansen, Christoffer; Sadetzki, Siegal; Bondy, Melissa L; Melin, Beatrice S

    2014-10-01

    Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several cancer phenotypes, to determine whether common chromosomal modifications might account for the familial aggregation of glioma and other cancers. Germline rearrangements in 146 glioma families (from the Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer.The genomic areas covering TP53, CDKN2A, MLH1, and MSH2 were selected because these genes have been previously reported to be associated with cancer pedigrees known to include glioma. We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer. Large deletions and duplications are rare events in familial glioma cases, even in families with a strong family history of cancers that may be involved in known cancer syndromes. © The Author(s) 2014. Published by Oxford University Press on behalf of the Society for Neuro-Oncology.

  9. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

    Science.gov (United States)

    Andersson, Ulrika; Wibom, Carl; Cederquist, Kristina; Aradottir, Steina; Borg, Åke; Armstrong, Georgina N.; Shete, Sanjay; Lau, Ching C.; Bainbridge, Matthew N.; Claus, Elizabeth B.; Barnholtz-Sloan, Jill; Lai, Rose; Il'yasova, Dora; Houlston, Richard S.; Schildkraut, Joellen; Bernstein, Jonine L.; Olson, Sara H.; Jenkins, Robert B.; Lachance, Daniel H.; Wrensch, Margaret; Davis, Faith G.; Merrell, Ryan; Johansen, Christoffer; Sadetzki, Siegal; Bondy, Melissa L.; Melin, Beatrice S.; Adatto, Phyllis; Morice, Fabian; Payen, Sam; McQuinn, Lacey; McGaha, Rebecca; Guerra, Sandra; Paith, Leslie; Roth, Katherine; Zeng, Dong; Zhang, Hui; Yung, Alfred; Aldape, Kenneth; Gilbert, Mark; Weinberger, Jeffrey; Colman, Howard; Conrad, Charles; de Groot, John; Forman, Arthur; Groves, Morris; Levin, Victor; Loghin, Monica; Puduvalli, Vinay; Sawaya, Raymond; Heimberger, Amy; Lang, Frederick; Levine, Nicholas; Tolentino, Lori; Saunders, Kate; Thach, Thu-Trang; Iacono, Donna Dello; Sloan, Andrew; Gerson, Stanton; Selman, Warren; Bambakidis, Nicholas; Hart, David; Miller, Jonathan; Hoffer, Alan; Cohen, Mark; Rogers, Lisa; Nock, Charles J; Wolinsky, Yingli; Devine, Karen; Fulop, Jordonna; Barrett, Wendi; Shimmel, Kristen; Ostrom, Quinn; Barnett, Gene; Rosenfeld, Steven; Vogelbaum, Michael; Weil, Robert; Ahluwalia, Manmeet; Peereboom, David; Staugaitis, Susan; Schilero, Cathy; Brewer, Cathy; Smolenski, Kathy; McGraw, Mary; Naska, Theresa; Rosenfeld, Steven; Ram, Zvi; Blumenthal, Deborah T.; Bokstein, Felix; Umansky, Felix; Zaaroor, Menashe; Cohen, Avi; Tzuk-Shina, Tzeela; Voldby, Bo; Laursen, René; Andersen, Claus; Brennum, Jannick; Henriksen, Matilde Bille; Marzouk, Maya; Davis, Mary Elizabeth; Boland, Eamon; Smith, Marcel; Eze, Ogechukwu; Way, Mahalia; Lada, Pat; Miedzianowski, Nancy; Frechette, Michelle; Paleologos, Nina; Byström, Gudrun; Svedberg, Eva; Huggert, Sara; Kimdal, Mikael; Sandström, Monica; Brännström, Nikolina; Hayat, Amina; Tihan, Tarik; Zheng, Shichun; Berger, Mitchel; Butowski, Nicholas; Chang, Susan; Clarke, Jennifer; Prados, Michael; Rice, Terri; Sison, Jeannette; Kivett, Valerie; Duo, Xiaoqin; Hansen, Helen; Hsuang, George; Lamela, Rosito; Ramos, Christian; Patoka, Joe; Wagenman, Katherine; Zhou, Mi; Klein, Adam; McGee, Nora; Pfefferle, Jon; Wilson, Callie; Morris, Pagan; Hughes, Mary; Britt-Williams, Marlin; Foft, Jessica; Madsen, Julia; Polony, Csaba; McCarthy, Bridget; Zahora, Candice; Villano, John; Engelhard, Herbert; Borg, Ake; Chanock, Stephen K; Collins, Peter; Elston, Robert; Kleihues, Paul; Kruchko, Carol; Petersen, Gloria; Plon, Sharon; Thompson, Patricia; Johansen, C.; Sadetzki, S.; Melin, B.; Bondy, Melissa L.; Lau, Ching C.; Scheurer, Michael E.; Armstrong, Georgina N.; Liu, Yanhong; Shete, Sanjay; Yu, Robert K.; Aldape, Kenneth D.; Gilbert, Mark R.; Weinberg, Jeffrey; Houlston, Richard S.; Hosking, Fay J.; Robertson, Lindsay; Papaemmanuil, Elli; Claus, Elizabeth B.; Claus, Elizabeth B.; Barnholtz-Sloan, Jill; Sloan, Andrew E.; Barnett, Gene; Devine, Karen; Wolinsky, Yingli; Lai, Rose; McKean-Cowdin, Roberta; Il'yasova, Dora; Schildkraut, Joellen; Sadetzki, Siegal; Yechezkel, Galit Hirsh; Bruchim, Revital Bar-Sade; Aslanov, Lili; Sadetzki, Siegal; Johansen, Christoffer; Kosteljanetz, Michael; Broholm, Helle; Bernstein, Jonine L.; Olson, Sara H.; Schubert, Erica; DeAngelis, Lisa; Jenkins, Robert B.; Yang, Ping; Rynearson, Amanda; Andersson, Ulrika; Wibom, Carl; Henriksson, Roger; Melin, Beatrice S.; Cederquist, Kristina; Aradottir, Steina; Borg, Åke; Merrell, Ryan; Lada, Patricia; Wrensch, Margaret; Wiencke, John; Wiemels, Joe; McCoy, Lucie; McCarthy, Bridget J.; Davis, Faith G.

    2014-01-01

    Background Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several cancer phenotypes, to determine whether common chromosomal modifications might account for the familial aggregation of glioma and other cancers. Methods Germline rearrangements in 146 glioma families (from the Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer.The genomic areas covering TP53, CDKN2A, MLH1, and MSH2 were selected because these genes have been previously reported to be associated with cancer pedigrees known to include glioma. Results We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer. Conclusions Large deletions and duplications are rare events in familial glioma cases, even in families with a strong family history of cancers that may be involved in known cancer syndromes. PMID:24723567

  10. Bereavement needs of adults, children, and families after cancer.

    Science.gov (United States)

    Kim, Youngmee; Lucette, Aurelie; Loscalzo, Matthew

    2013-01-01

    Many families and close friends are experiencing bereavement due to cancer. A review of recent studies of bereavement outcomes, mainly elevated psychological distress, suggests that bereaved family members, compared with nonbereaved, have poorer quality of life. They display high levels of complicated grief, anxiety, and depression and use bereavement services, but also report finding meaning in the loss, during the first 6 months after death. Similar demographic (e.g., female sex and younger age) and psychological (e.g., premorbid mental health conditions and lack of preparedness for the death) predictors are related to the bereavement outcomes across different familial groups. However, the severity of psychological distress and bereavement needs expressed vary by familial groups. Unrelieved pain and anxiety of the patient before the death and family members being unprepared for the impending death appear to be related to several postdeath psychological and physical morbidities of the surviving family members. Although the number of articles addressing bereavement-related issues associated with cancer has been growing in recent years, more rigorous studies that use longitudinal prospective designs, which bridge cancer survivorship with bereavement research, are needed.

  11. Family History as a Risk for Upper Gastrointestinal Tract Cancer: A Case Control Study

    OpenAIRE

    A Safaee; Moghimi Dehkordi, B; Fatemi, SR; Maserat, E; Ghafarnejad, F; Zali, MR

    2011-01-01

    Background Although, family history of cancer is an important risk factor for upper gastrointestinal cancers development, but limited information is available on the upper gastrointestinal cancers associated with family history in Iran. The purpose of this study was to define upper gastrointestinal cancers risk associated with family history of cancer. Methods This study was conducted as a case control study. A total number of 1,010 cases of upper gastrointestinal cancer and 1,010 healthy con...

  12. Toward cultural competence in cancer genetic counseling and genetics education: lessons learned from Chinese-Australians.

    Science.gov (United States)

    Barlow-Stewart, Kristine; Yeo, Soo See; Meiser, Bettina; Goldstein, David; Tucker, Kathy; Eisenbruch, Maurice

    2006-01-01

    In societies such as Australia with a strong multicultural makeup, culturally determined attitudes to genetics, testing, and counseling may be incompatible with current genetics service provision. An ethnographic investigation using purposive sampling to increase subject diversity was used to explore the range of beliefs about kinship and inheritance using Chinese-Australians as a case. Participants comprised a sample of 15 Chinese-Australians who had been recruited through several community-based organizations. The level of acculturation does not correlate with holding beliefs about inheritance, kinship, and causes of hereditary cancer that are based on "Western" biomedical or traditional concepts. Mismatch between beliefs may exist within families that can impact participation in cancer genetic testing. Family history taking that underpins the surveillance, management, and referral to genetic counseling where there is a strong family history of breast, ovarian, or colorectal cancer can also be impacted unless recognition is made of the patrilineal concept of kinship prevalent in this Chinese-Australian community. This community-based study confirmed and validated views and beliefs on inheritance and kinship and inherited cancer attributed to senior family members by Chinese-Australians who attended cancer genetic counseling. Barriers to communication can occur where there may be incompatibility within the family between "Western" and traditional beliefs. The findings were used to develop strategies for culturally competent cancer genetic counseling with Australian-Chinese patients. These include nonjudgmental incorporation of their belief systems into the genetic counseling process and avoidance of stereotyping. They have also influenced the development of genetics education materials to optimize family history taking.

  13. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.

    Science.gov (United States)

    Win, Aung Ko; Cleary, Sean P; Dowty, James G; Baron, John A; Young, Joanne P; Buchanan, Daniel D; Southey, Melissa C; Burnett, Terrilea; Parfrey, Patrick S; Green, Roger C; Le Marchand, Loïc; Newcomb, Polly A; Haile, Robert W; Lindor, Noralane M; Hopper, John L; Gallinger, Steven; Jenkins, Mark A

    2011-11-01

    Cancer risks for a person who has inherited a MUTYH mutation from only one parent (monoallelic mutation carrier) are uncertain. Using the Colon Cancer Family Registry and Newfoundland Familial Colon Cancer Registry, we identified 2,179 first- and second-degree relatives of 144 incident colorectal cancer (CRC) cases who were monoallelic or biallelic mutation carriers ascertained by sampling population complete cancer registries in the United States, Canada and Australia. Using Cox regression weighted to adjust for sampling on family history, we estimated that the country-, age- and sex-specific standardized incidence ratios (SIRs) for monoallelic mutation carriers, compared to the general population, were: 2.04 (95% confidence interval, CI 1.56-2.70; p cancer, 3.09 (95%CI 1.07-12.25; p = 0.07) for liver cancer and 2.33 (95%CI 1.18-5.08; p = 0.02) for endometrial cancer. Age-specific cumulative risks to age 70 years, estimated using the SIRs and US population incidences, were: for CRC, 6% (95%CI 5-8%) for men and 4% (95%CI 3-6%) for women; for gastric cancer, 2% (95%CI 1-3%) for men and 0.7% (95%CI 0.5-1%) for women; for liver cancer, 1% (95%CI 0.3-3%) for men and 0.3% (95%CI 0.1-1%) for women and for endometrial cancer, 4% (95%CI 2-8%). There was no evidence of increased risks for cancers of the brain, pancreas, kidney, lung, breast or prostate. Monoallelic MUTYH mutation carriers with a family history of CRC, such as those identified from screening multiple-case CRC families, are at increased risk of colorectal, gastric, endometrial and possibly liver cancers. Copyright © 2010 UICC.

  14. The GDNF Family: A Role in Cancer?

    OpenAIRE

    Graeme C. Fielder; Teresa Wen-Shan Yang; Mahalakshmi Razdan; Yan Li; Jun Lu; Jo K. Perry; Peter E. Lobie; Dong-Xu Liu

    2018-01-01

    The glial cell line–derived neurotrophic factor (GDNF) family of ligands (GFLs) comprising of GDNF, neurturin, artemin, and persephin plays an important role in the development and maintenance of the central and peripheral nervous system, renal morphogenesis, and spermatogenesis. Here we review our current understanding of GFL biology, and supported by recent progress in the area, we examine their emerging role in endocrine-related and other non–hormone-dependent solid neoplasms. The ability ...

  15. Nighttime use of special spectacles or light bulbs that block blue light may reduce the risk of cancer.

    Science.gov (United States)

    Alpert, Martin; Carome, Edward; Kubulins, Vilnis; Hansler, Richard

    2009-09-01

    For more than 15 years evidence has been accumulating that there is a link between a lack of melatonin and cancer, especially breast, ovarian and prostate cancer. For a similar period it has been known that exposing the eyes to light when melatonin is normally flowing reduces or eliminates the flow. What is relatively new is that it is primarily the blue wavelengths that are responsible for loss of melatonin. Blocking these blue rays with amber glasses restores melatonin flow. Also new is the direct evidence, from analysis of the famous nurses' health study, that having more melatonin present in first morning urine is linked to a reduction in the incidence of breast cancer. This leads to the hypothesis that wearing amber glasses (or using blue-free light bulbs) for a few hours before bedtime maximizes melatonin production and reduces the risk of breast, ovarian and prostate cancer and possibly other cancers.

  16. Association of rare MSH6 variants with familial breast cancer

    NARCIS (Netherlands)

    Wasielewski, Marijke; Riaz, Muhammad; Vermeulen, Joyce; van den Ouweland, Ans; Labrijn-Marks, Ineke; Olmer, Renske; van der Spaa, Linda; Klijn, Jan G. M.; Meijers-Heijboer, Hanne; Dooijes, Dennis; Schutte, Mieke

    2010-01-01

    Germline mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 predispose to Lynch syndrome (also known as hereditary non-polyposis colorectal cancer). Recently, we have shown that the CHEK2 1100delC mutation also is associated with Lynch syndrome/Lynch syndrome-associated families

  17. Brief Family-Focused Intervention on the Pediatric Cancer Unit.

    Science.gov (United States)

    Friedrich, William N.; Copeland, Donna R.

    1983-01-01

    Suggests that behavioral problems that frequently occur in pediatric cancer treatment settings, such as food refusal and the resistance to treatment, can be successfully treated utilizing family therapy techniques. Presents the theoretical background that supports this mode of intervention and several case studies. (Author/WAS)

  18. Resilience in Families of Husbands with Prostate Cancer

    Science.gov (United States)

    Greeff, Abraham P.; Thiel, Colleen

    2012-01-01

    This study identifies qualities associated with the successful adaptation of families with a husband diagnosed with prostate cancer. Both qualitative and quantitative measures were used in this cross-sectional survey research design. Twenty-one husbands and their spouses independently completed six questionnaires and a biographical questionnaire,…

  19. Randomized Comparison of Surveillance Intervals in Familial Colorectal Cancer

    NARCIS (Netherlands)

    Hennink, Simone D.; van der Meulen-de Jong, Andrea E.; Wolterbeek, Ron; Crobach, A. Stijn L. P.; Becx, Marco C. J. M.; Crobach, Wiet F. S. J.; van Haastert, Michiel; ten Hove, W. Rogier; Kleibeuker, Jan H.; Meijssen, Maarten A. C.; Nagengast, Fokko M.; Rijk, Marno C. M.; Salemans, Jan M. J. I.; Stronkhorst, Arnold; Tuynman, Hans A. R. E.; Vecht, Juda; Verhulst, Marie-Louise; Cappel, Wouter H. de Vos Tot Nederveen; Walinga, Herman; Weinhardt, Olaf K.; Westerveld, Dik; Witte, Anne M. C.; Wolters, Hugo J.; Cats, Annemieke; Veenendaal, Roeland A.; Morreau, Hans; Vasen, Hans F. A.

    2015-01-01

    Purpose Colonoscopic surveillance is recommended for individuals with familial colorectal cancer (CRC). However, the appropriate screening interval has not yet been determined. The aim of this randomized trial was to compare a 3-year with a 6-year screening interval. Patients and Methods Individuals

  20. PCTAIRE1-knockdown sensitizes cancer cells to TNF family cytokines.

    Directory of Open Access Journals (Sweden)

    Teruki Yanagi

    Full Text Available While PCTAIRE1/PCTK1/Cdk16 is overexpressed in malignant cells and is crucial in tumorigenesis, its function in apoptosis remains unclear. Here we investigated the role of PCTAIRE1 in apoptosis, especially in the extrinsic cell death pathway. Gene-knockdown of PCTAIRE1 sensitized prostate cancer PPC1 and Du145 cells, and breast cancer MDA-MB-468 cells to TNF-family cytokines, including TNF-related apoptosis-inducing ligand (TRAIL. Meanwhile, PCTAIRE1-knockdown did not sensitize non-malignant cells, including diploid fibroblasts IMR-90 and the immortalized prostate epithelial cell line 267B1. PCTAIRE1-knockdown did not up-regulate death receptor expression on the cell surface or affect caspase-8, FADD and FLIP expression levels. PCTAIRE1-knockdown did promote caspase-8 cleavage and RIPK1 degradation, while RIPK1 mRNA knockdown sensitized PPC1 cells to TNF-family cytokines. Furthermore, the kinase inhibitor SNS-032, which inhibits PCTAIRE1 kinase activity, sensitized PPC1 cells to TRAIL-induced apoptosis. Together these results suggest that PCTAIRE1 contributes to the resistance of cancer cell lines to apoptosis induced by TNF-family cytokines, which implies that PCTAIRE1 inhibitors could have synergistic effects with TNF-family cytokines for cytodestruction of cancer cells.

  1. Activating mutation in MET oncogene in familial colorectal cancer

    Directory of Open Access Journals (Sweden)

    Schildkraut Joellen M

    2011-10-01

    Full Text Available Abstract Background In developed countries, the lifetime risk of developing colorectal cancer (CRC is 5%, and it is the second leading cause of death from cancer. The presence of family history is a well established risk factor with 25-35% of CRCs attributable to inherited and/or familial factors. The highly penetrant inherited colon cancer syndromes account for approximately 5%, leaving greater than 20% without clear genetic definition. Familial colorectal cancer has been linked to chromosome 7q31 by multiple affected relative pair studies. The MET proto-oncogene which resides in this chromosomal region is considered a candidate for genetic susceptibility. Methods MET exons were amplified by PCR from germline DNA of 148 affected sibling pairs with colorectal cancer. Amplicons with altered sequence were detected with high-resolution melt-curve analysis using a LightScanner (Idaho Technologies. Samples demonstrating alternative melt curves were sequenced. A TaqMan assay for the specific c.2975C >T change was used to confirm this mutation in a cohort of 299 colorectal cancer cases and to look for allelic amplification in tumors. Results Here we report a germline non-synonymous change in the MET proto-oncogene at amino acid position T992I (also reported as MET p.T1010I in 5.2% of a cohort of sibling pairs affected with CRC. This genetic variant was then confirmed in a second cohort of individuals diagnosed with CRC and having a first degree relative with CRC at prevalence of 4.1%. This mutation has been reported in cancer cells of multiple origins, including 2.5% of colon cancers, and in Conclusions Although the MET p.T992I genetic mutation is commonly found in somatic colorectal cancer tissues, this is the first report also implicating this MET genetic mutation as a germline inherited risk factor for familial colorectal cancer. Future studies on the cancer risks associated with this mutation and the prevalence in different at-risk populations will

  2. Family history of cancer predicts Papanicolaou screening behavior for African American and white women.

    Science.gov (United States)

    Williams, Karen Patricia; Reiter, Paul; Mabiso, Athur; Maurer, Joel; Paskett, Electra

    2009-01-01

    Understanding women's motivations for getting Papanicolaou (Pap) screening has the potential to impact cancer disparities. This study examined whether having a family history of cancer was a predictor for Pap screening. By using the National Health Interview Survey 2000 Cancer Control and Family modules, we identified a subsample (n=15,509) of African American (n=2774) and white women (n=12,735) unaffected by cancer, with and without a family history of cancer. Data were analyzed using logistic regression models. African American and white women with a positive family history of cancer were 42% (Phistory of cancer. Among African American women, those with a positive family history of cancer were 53% more likely to have had a recent Pap test, whereas among white women those with a positive family history of cancer were 41% more likely to have received a Pap test. African American women with a family history of cancer were more likely to have had a recent Pap test than white women with or without a family history of cancer. This study presents a unique perspective on Pap screening behavior. Having an immediate family member with any cancer statistically predicted having a recent Pap test for both African American and white women. Because these results demonstrated that regardless of the cancer type, having an immediate affected family member is a motivator for cervical cancer screening behavior, healthcare providers managing cancer treatment patients have a teachable opportunity that extends beyond the patient. Copyright (c) 2008 American Cancer Society.

  3. Hereditary nonpolyposis colorectal cancer and familial colorectal cancer in Central part of Iran, Isfahan

    Directory of Open Access Journals (Sweden)

    Amin Nemati

    2012-01-01

    Full Text Available Background: There is a lack of data on familial aggregation of colorectal cancer (CRC in Iran. We aimed to deter-mine the frequency of hereditary nonpolyposis colorectal cancer (HNPCC and familial colorectal cancer (FCC and to determine the frequency of extracolonic cancers in these families in Isfahan. Methods: We reviewed documents of all patients with a pathologically confirmed diagnosis of CRC admitted to Isfa-han referral hospitals between 1995 and 2006. We also studied our CRC registry at Poursina Hakim Research Institute from 2003 to 2008. We found HNPCC and FCC families based on the Amsterdam II criteria and interviewed them for family history of CRC and extracolonic tumors. The family history was taken at least up to the second-degree relatives. Results: During 1996 to 2008, a total of 2580 CRC cases have been diagnosed. We found 14 HNPCC and 53 FCC families. Mean age of CRC at diagnosis was 48.0 ΁ 14.6 and 49.0 ΁ 13.9 years in the HNPCC and FCC families, re-spectively (p > 0.05. The total numbers of observed extracolonic tumors were 70 (21.6%; mean age = 53.6 ΁ 11.0 years and 157 (13.8%; mean age = 54.8 ΁ 18.0 years in HNPCC and FCC families, respectively (p > 0.05. CRC was respectively found in 52 and 76 members of the HNPCC and FCC families, revealing the frequency of HNPCC and FCC as 2.0% (52/2580 and 2.9% (76/2580, respectively. Conclusions: We found a relative high frequency of HNPCC (2.0% and FCC (2.9% among CRC cases in our socie-ty and high incidence of extracolonic tumors in their families. Further studies focusing on molecular basis in this field and designing a specific screening and national cancer registry program for HNPCC and FCC families should be con-ducted.

  4. Molecular and Survival Differences between Familial and Sporadic Gastric Cancers

    Directory of Open Access Journals (Sweden)

    Wen-Liang Fang

    2013-01-01

    Full Text Available Mismatch repair (MMR and germline E-cadherin (CDH1 mutations are two of the major pathways of carcinogenesis in familial gastric cancer (GC. A total of 260 sporadic and 66 familial GC patients were enrolled and molecular and survival differences were compared. Familial GC patients had earlier onset and were diagnosed at an earlier stage and had both a better 5-year overall survival rate and 3-year disease-free survival rate compared with sporadic GC patients. Only in diffuse type GC, the MSI-H phenotype and abnormal MMR protein expression were significantly higher in familial GC than in sporadic GC. In MSI-H GC, MLH1 promoter methylation was slightly higher in sporadic GC than familial GC (50% versus 23.1%, while the frequency of MMR gene mutation was slightly higher in familial GC than in sporadic GC (15.4% versus 3.1%. All of the patients with MMR gene mutation had diffuse type GC. Among familial GC patients with CDH1 mutation, most patients (72.3% had diffuse type GC. In summary, for familial GC patients, we recommend screening of MSI status and CDH1 mutation especially for diffuse type GC. Because of the low incidence, mutation analysis of MMR gene might be considered in MSI-H familial GC with diffuse type only.

  5. Predicting breast cancer risk: implications of a "weak" family history.

    Science.gov (United States)

    Anderson, Elaine; Berg, Jonathan; Black, Roger; Bradshaw, Nicola; Campbell, Joyce; Cetnarskyj, Roseanne; Drummond, Sarah; Davidson, Rosemarie; Dunlop, Jacqueline; Fordyce, Alison; Gibbons, Barbara; Goudie, David; Gregory, Helen; Hanning, Kirstie; Holloway, Susan; Longmuir, Mark; McLeish, Lorna; Murday, Vicky; Miedzybrodska, Zosia; Nicholson, Donna; Pearson, Pauline; Porteous, Mary; Reis, Marta; Slater, Sheila; Smith, Karen; Smyth, Elizabeth; Snadden, Lesley; Steel, Michael; Stirling, Diane; Watt, Cathy; Whyte, Catriona; Young, Dorothy

    2008-01-01

    Published guidelines adopted in many countries recommend that women whose family history of breast cancer places them at a risk>or=1.7 times that of the age-matched general population, should be considered for inclusion in special surveillance programmes. However validation of risk assessment models has been called for as a matter of urgency. The databases of the four Scottish Familial Breast Cancer clinics and the Scottish Cancer Registry have been searched to identify breast cancers occurring among 1,125 women aged 40-56, with family histories placing them below the "moderate" level of genetic risk. The observed incidence over 6 years was compared with age-specific data for the Scottish population. Our findings confirm that when there are two affected relatives (one first degree) the relative risk (RR) exceeds 1.7 regardless of their ages at diagnosis. When only one (first degree) relative was affected at any age from 40 to 55, the RR does not reach 1.7 if that relative was a mother but exceeds it if the relative was a sister. The probable explanation is that sisters are more likely than mother/daughter pairs to share homozygosity for a risk allele. Surveillance programmes might therefore accommodate sisters of women affected before age 55. Evidence that "low penetrance" alleles contributing to breast cancer risk may be recessive should be taken into account in strategies for identifying them.

  6. Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families : high cancer incidence at older age

    NARCIS (Netherlands)

    van der Kolk, Dorina M.; de Bock, Geertruida H.; Leegte, Beike K.; Schaapveld, Michael; Mourits, Marian J. E.; de Vries, J; van der Hout, Annemieke H.; Oosterwijk, Jan C.

    Accurate estimations of lifetime risks of breast and ovarian cancer are crucial for counselling women from BRCA1/2 families. We therefore determined breast and ovarian cancer penetrance in BRCA1/2 mutation families in the northern Netherlands and compared them with the incidence of cancers in the

  7. Cancer genetics and genomics of human FOX family genes.

    Science.gov (United States)

    Katoh, Masuko; Igarashi, Maki; Fukuda, Hirokazu; Nakagama, Hitoshi; Katoh, Masaru

    2013-01-28

    Forkhead-box (FOX) family proteins, involved in cell growth and differentiation as well as embryogenesis and longevity, are DNA-binding proteins regulating transcription and DNA repair. The focus of this review is on the mechanisms of FOX-related human carcinogenesis. FOXA1 is overexpressed as a result of gene amplification in lung cancer, esophageal cancer, ER-positive breast cancer and anaplastic thyroid cancer and is point-mutated in prostate cancer. FOXA1 overexpression in breast cancer and prostate cancer is associated with good or poor prognosis, respectively. Single nucleotide polymorphism (SNP) within the 5'-UTR of the FOXE1 (TTF2) gene is associated with thyroid cancer risk. FOXF1 overexpression in breast cancer is associated with epithelial-to-mesenchymal transition (EMT). FOXM1 is overexpressed owing to gene amplification in basal-type breast cancer and diffuse large B-cell lymphoma (DLBCL), and it is transcriptionally upregulated owing to Hedgehog-GLI, hypoxia-HIF1α or YAP-TEAD signaling activation. FOXM1 overexpression leads to malignant phenotypes by directly upregulating CCNB1, AURKB, MYC and SKP2 and indirectly upregulating ZEB1 and ZEB2 via miR-200b downregulation. Tumor suppressor functions of FOXO transcription factors are lost in cancer cells as a result of chromosomal translocation, deletion, miRNA-mediated repression, AKT-mediated cytoplasmic sequestration or ubiquitination-mediated proteasomal degradation. FOXP1 is upregulated as a result of gene fusion or amplification in DLBCL and MALT lymphoma and also repression of miRNAs, such as miR-1, miR-34a and miR-504. FOXP1 overexpression is associated with poor prognosis in DLBCL, gastric MALT lymphoma and hepatocellular carcinoma but with good prognosis in breast cancer. In neuroblastoma, the entire coding region of the FOXR1 (FOXN5) gene is fused to the MLL or the PAFAH1B gene owing to interstitial deletions. FOXR1 fusion genes function as oncogenes that repress transcription of FOXO target

  8. Mutation analysis of the AATF gene in breast cancer families

    Directory of Open Access Journals (Sweden)

    Nikkilä Jenni

    2009-12-01

    Full Text Available Abstract Background About 5-10% of breast cancer is due to inherited disease predisposition. Many previously identified susceptibility factors are involved in the maintenance of genomic integrity. AATF plays an important role in the regulation of gene transcription and cell proliferation. It induces apoptosis by associating with p53. The checkpoint kinases ATM/ATR and CHEK2 interact with and phosphorylate AATF, enhancing its accumulation and stability. Based on its biological function, and direct interaction with several known breast cancer risk factors, AATF is a good candidate gene for being involved in heritable cancer susceptibility. Methods Here we have screened the entire coding region of AATF in affected index cases from 121 Finnish cancer families for germline defects, using conformation sensitive gel electrophoresis and direct sequencing. Results Altogether seven different sequence changes were observed, one missense variant and six intronic ones. Based on the in silico analyses of these sequence alterations, as well as their occurrence in cases and controls, none of them, however, were predicted to be pathogenic. Conclusions To our knowledge, this is the first study reporting the mutation screening of the AATF gene in familial breast cancer cases. No evidence for the association with breast cancer was observed.

  9. Systematic Review: Family Resilience After Pediatric Cancer Diagnosis.

    Science.gov (United States)

    Van Schoors, Marieke; Caes, Line; Verhofstadt, Lesley L; Goubert, Liesbet; Alderfer, Melissa A

    2015-10-01

    A systematic review was conducted to (1) investigate family resilience in the context of pediatric cancer, and (2) examine theoretical, methodological, and statistical issues in this literature. Family resilience was operationalized as competent family functioning after exposure to a significant risk. Following guidelines for systematic reviews, searches were performed using Web of Science, Pubmed, Cochrane, PsycInfo, and Embase. After screening 5,563 articles, 85 fulfilled inclusion criteria and were extracted for review. Findings indicated that most families are resilient, adapting well to the crisis of cancer diagnosis. However, a subset still experiences difficulties. Methodological issues in the current literature hamper strong nuanced conclusions. We suggest future research with a greater focus on family resilience and factors predicting it, based on available theory, and conducted with attention toward unit of measurement and use of appropriate statistical analyses. Improvements in research are needed to best inform family-based clinical efforts. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  10. The experience of rural families in the face of cancer.

    Science.gov (United States)

    Girardon-Perlini, Nara Marilene Oliveira; Ângelo, Margareth

    2017-01-01

    To understand the meanings of cancer within the experience of rural families and how such meanings influence family dynamics. Qualitative study guided by Symbolic Interactionism as a theoretical framework and Grounded Theory as a methodological framework. Six rural families (18 participants) undergoing the experience of having a relative with cancer participated in the interview. Constant comparative analysis of data allowed the elaboration of an explanatory substantive theory, defined by the main category Caregiving to support the family world, which represents the family's symbolic actions and strategies to reconcile care for the patient and care for family life. Throughout the experience, rural families seek to preserve the interconnected symbolic elements that provide support for the family world: family unit, land, work and care. Compreender os significados do câncer presentes na experiência de famílias rurais e como esses significados influenciam a dinâmica familiar. Estudo qualitativo orientado pelo Interacionismo Simbólico como referencial teórico e pela Teoria Fundamentada nos Dados como referencial metodológico. Participaram, por meio de entrevista, seis famílias rurais (18 participantes) que estavam vivendo a experiência de ter um familiar com câncer. A análise comparativa constante dos dados permitiu a elaboração de uma teoria substantiva explicativa da experiência, definida pela categoria central Cuidando para manter o mundo da família amparado, que representa as ações e estratégias simbólicas da família visando a conciliar o cuidado do familiar doente e o cuidado da vida familiar. Ao longo da experiência, a família rural procura preservar os elementos simbólicos que, conectados, constituem o amparo do mundo da família: a unidade familiar, a terra, o trabalho e o cuidado.

  11. Attitudes Toward Family Involvement in Cancer Treatment Decision Making: The Perspectives of Patients, Family Caregivers, and Their Oncologists.

    Science.gov (United States)

    Shin, Dong Wook; Cho, Juhee; Roter, Debra L; Kim, So Young; Yang, Hyung Kook; Park, Keeho; Kim, Hyung Jin; Shin, Hee-Young; Kwon, Tae Gyun; Park, Jong Hyock

    2017-06-01

    To investigate how cancer patients, family caregiver, and their treating oncologist view the risks and benefits of family involvement in cancer treatment decision making (TDM) or the degree to which these perceptions may differ. A nationwide, multicenter survey was conducted with 134 oncologists and 725 of their patients and accompanying caregivers. Participant answered to modified Control Preferences Scale and investigator-developed questionnaire regarding family involvement in cancer TDM. Most participants (>90%) thought that family should be involved in cancer TDM. When asked if the oncologist should allow family involvement if the patient did not want them involved, most patients and caregivers (>85%) thought they should. However, under this circumstance, only 56.0% of oncologists supported family involvement. Patients were significantly more likely to skew their responses toward patient rather than family decisional control than were their caregivers (P family decisional control than caregivers (P family involvement is helpful and neither hamper patient autonomy nor complicate cancer TDM process. Oncologists were largely positive, but less so in these ratings than either patients or caregivers (P family caregivers, and, to a lesser degree, oncologists expect and valued family involvement in cancer TDM. These findings support a reconsideration of traditional models focused on protection of patient autonomy to a more contextualized form of relational autonomy, whereby the patient and family caregivers can be seen as a unit for autonomous decision. Copyright © 2016 John Wiley & Sons, Ltd.

  12. A family-based program of care for women with recurrent breast cancer and their family members.

    Science.gov (United States)

    Northouse, Laurel L; Walker, Julie; Schafenacker, Ann; Mood, Darlene; Mellon, Suzanne; Galvin, Elizabeth; Harden, Janet; Freeman-Gibb, Laurie

    2002-01-01

    To evaluate the FOCUS Program (family involvement, optimistic attitude, coping effectiveness, uncertainty reduction, and symptom management), a family-based program of care for women with recurrent breast cancer and their family caregivers. Randomized clinical trial. Midwest region of the United States. The family-based program of care consisted of five components: family involvement, optimistic attitude, coping effectiveness, uncertainty reduction, and symptom management. The program was delivered in three home visits and two follow-up phone calls over a five-month period of time. Patients with recurrent breast cancer and their family members reported high satisfaction with the FOCUS Program. Although the FOCUS Program had a number of strengths, limitations of the program also were identified that need to be addressed in future family-based interventions. A need exists for family-based programs of care that enable both patients and their family members to manage the multiple demands associated with recurrent breast cancer.

  13. Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.

    Science.gov (United States)

    Johnatty, Sharon E; Tan, Yen Y; Buchanan, Daniel D; Bowman, Michael; Walters, Rhiannon J; Obermair, Andreas; Quinn, Michael A; Blomfield, Penelope B; Brand, Alison; Leung, Yee; Oehler, Martin K; Kirk, Judy A; O'Mara, Tracy A; Webb, Penelope M; Spurdle, Amanda B

    2017-11-01

    To determine endometrial cancer (EC) risk according to family cancer history, including assessment by degree of relatedness, type of and age at cancer diagnosis of relatives. Self-reported family cancer history was available for 1353 EC patients and 628 controls. Logistic regression was used to quantify the association between EC and cancer diagnosis in ≥1 first or second degree relative, and to assess whether level of risk differed by degree of relationship and/or relative's age at diagnosis. Risk was also evaluated for family history of up to three cancers from known familial syndromes (Lynch, Cowden, hereditary breast and ovarian cancer) overall, by histological subtype and, for a subset of 678 patients, by EC tumor mismatch repair (MMR) gene expression. Report of EC in ≥1 first- or second-degree relative was associated with significantly increased risk of EC (P=3.8×10-7), independent of lifestyle risk factors. There was a trend in increasing EC risk with closer relatedness and younger age at EC diagnosis in relatives (PTrend=4.43×10-6), and with increasing numbers of Lynch cancers in relatives (PTrend≤0.0001). EC risk associated with family history did not differ by proband tumor MMR status, or histological subtype. Reported EC in first- or second-degree relatives remained associated with EC risk after conservative correction for potential misreported family history (OR 2.0; 95% CI, 1.24-3.37, P=0.004). The strongest predictor of EC risk was closer relatedness and younger EC diagnosis age in ≥1 relative. Associations remained significant irrespective of proband MMR status, and after excluding MMR pathogenic variant carriers, indicating that Lynch syndrome genes do not fully explain familial EC risk. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Family History of Breast Cancer, Breast Density, and Breast Cancer Risk in a U.S. Breast Cancer Screening Population.

    Science.gov (United States)

    Ahern, Thomas P; Sprague, Brian L; Bissell, Michael C S; Miglioretti, Diana L; Buist, Diana S M; Braithwaite, Dejana; Kerlikowske, Karla

    2017-06-01

    Background: The utility of incorporating detailed family history into breast cancer risk prediction hinges on its independent contribution to breast cancer risk. We evaluated associations between detailed family history and breast cancer risk while accounting for breast density.Methods: We followed 222,019 participants ages 35 to 74 in the Breast Cancer Surveillance Consortium, of whom 2,456 developed invasive breast cancer. We calculated standardized breast cancer risks within joint strata of breast density and simple (1st-degree female relative) or detailed (first-degree, second-degree, or first- and second-degree female relative) breast cancer family history. We fit log-binomial models to estimate age-specific breast cancer associations for simple and detailed family history, accounting for breast density.Results: Simple first-degree family history was associated with increased breast cancer risk compared with no first-degree history [Risk ratio (RR), 1.5; 95% confidence interval (CI), 1.0-2.1 at age 40; RR, 1.5; 95% CI, 1.3-1.7 at age 50; RR, 1.4; 95% CI, 1.2-1.6 at age 60; RR, 1.3; 95% CI, 1.1-1.5 at age 70). Breast cancer associations with detailed family history were strongest for women with first- and second-degree family history compared with no history (RR, 1.9; 95% CI, 1.1-3.2 at age 40); this association weakened in higher age groups (RR, 1.2; 95% CI, 0.88-1.5 at age 70). Associations did not change substantially when adjusted for breast density.Conclusions: Even with adjustment for breast density, a history of breast cancer in both first- and second-degree relatives is more strongly associated with breast cancer than simple first-degree family history.Impact: Future efforts to improve breast cancer risk prediction models should evaluate detailed family history as a risk factor. Cancer Epidemiol Biomarkers Prev; 26(6); 938-44. ©2017 AACR. ©2017 American Association for Cancer Research.

  15. Prospectively Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort.

    Science.gov (United States)

    Pathak, Anand; Adams, Charleen D; Loud, Jennifer T; Nichols, Kathryn; Stewart, Douglas R; Greene, Mark H

    2015-10-01

    Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR = 11.9; 95% CI, 5.1-23.4; excess absolute risk = 7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR = 13.4; 95% CI, 1.6-48.6). Our data are the first to indicate that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. ©2015 American Association for Cancer Research.

  16. Familial Breast and Bowel Cancer: Does It Exist?

    Directory of Open Access Journals (Sweden)

    Scott Rodney J

    2004-02-01

    Full Text Available Abstract There is much debate in the literature about familial predispositions to breast and bowel cancers yet little evidence is forthcoming to suggest that there are susceptibility genes that can account for such kindreds. Within the context of known susceptibility genes the most controversial syndrome is hereditary non-polyposis colorectal cancer (HNPCC. In HNPCC, breast cancers do occur yet their incidence overall is no different to that of the general population yet when studied at the molecular level these tumours often display DNA microsatellite instability suggesting that they do indeed belong to this genetic entity. In this review we examine the relationship between breast and bowel cancer and suggest a possible explanation for the diverse points of view described in the literature.

  17. Herpes and polyoma family viruses in thyroid cancer.

    Science.gov (United States)

    Stamatiou, Dimitris P; Derdas, Stavros P; Zoras, Odysseas L; Spandidos, Demetrios A

    2016-03-01

    Thyroid cancer is considered the most common malignancy that affects the endocrine system. Generally, thyroid cancer derives from follicular epithelial cells, and thyroid cancer is divided into well-differentiated papillary (80% of cases) and follicular (15% of cases) carcinoma. Follicular thyroid cancer is further divided into the conventional and oncocytic (Hürthle cell) type, poorly differentiated carcinoma and anaplastic carcinoma. Both poorly differentiated and anaplastic carcinoma can arise either de novo , or secondarily from papillary and follicular thyroid cancer. The incidence of thyroid cancer has significantly increased for both males and females of all ages, particularly for females between 55-64 years of age, from 1999 through 2008. The increased rates refer to tumors of all stages, though they were mostly noted in localized disease. Recently, viruses have been implicated in the direct regulation of epithelial-mesenchymal transition (EMT) and the development of metastases. More specifically, Epstein-Barr virus (EBV) proteins may potentially lead to the development of metastasis through the regulation of the metastasis suppressor, Nm23, and the control of Twist expression. The significant enhancement of the metastatic potential, through the induction of angiogenesis and changes to the tumor microenvironment, subsequent to viral infection, has been documented, while EMT also contributes to cancer cell permissiveness to viruses. A number of viruses have been identified to be associated with carcinogenesis, and these include lymphotropic herpesviruses, namely EBV and Kaposi's sarcoma-associated herpesvirus [KSHV, also known as human herpesvirus type 8 (HHV8)]; two hepatitis viruses, hepatitis B virus (HBV) and hepatitis C virus (HCV); human papillomaviruses (HPVs); human T cell lymphoma virus (HTLV); and a new polyomavirus, Merkel cell polyomavirus identified in 2008. In this review, we examined the association between thyroid cancer and two oncogenic

  18. 40 years of progress in female cancer death risk: a Bayesian spatio-temporal mapping analysis in Switzerland.

    Science.gov (United States)

    Herrmann, Christian; Ess, Silvia; Thürlimann, Beat; Probst-Hensch, Nicole; Vounatsou, Penelope

    2015-10-09

    In the past decades, mortality of female gender related cancers declined in Switzerland and other developed countries. Differences in the decrease and in spatial patterns within Switzerland have been reported according to urbanisation and language region, and remain controversial. We aimed to investigate geographical and temporal trends of breast, ovarian, cervical and uterine cancer mortality, assess whether differential trends exist and to provide updated results until 2011. Breast, ovarian, cervical and uterine cancer mortality and population data for Switzerland in the period 1969-2011 was retrieved from the Swiss Federal Statistical office (FSO). Cases were grouped into Switzerland since 1990. Geographical differences are small, present on a regional or canton-overspanning level, and different for each cancer site and age group. No general significant association with cantonal or language region borders could be observed.

  19. Psychosocial care for family caregivers of patients with cancer.

    Science.gov (United States)

    Northouse, Laurel; Williams, Anna-Leila; Given, Barbara; McCorkle, Ruth

    2012-04-10

    To understand family caregivers' needs for better preparation and care, this state-of-the-science review examines the effect of caregiving on the health and well-being of caregivers, the efficacy of research-tested interventions on patient and caregiver outcomes, implications of the research on policy and practice, and recommendations for practice and future research. We reviewed research that described the multiple effects of cancer on caregivers' well-being. Five meta-analyses were analyzed to determine the effect of interventions with caregivers on patient and caregiver outcomes. In addition, we reviewed legislation such as the Affordable Care Act and the Family Leave Act along with current primary care practice to determine whether family caregivers' needs have been addressed. Research findings indicate that caregiver stress can lead to psychological and sleep disturbances and changes in caregivers' physical health, immune function, and financial well-being. Research-tested interventions delivered to caregivers of patients with cancer or other chronic illnesses can reduce many of these negative effects and improve caregivers' coping skills, knowledge, and quality of life. Although these interventions also decrease patients' symptoms, reduce mortality (non-dementia patients), and improve patients' physical and mental health, they are seldom implemented in practice. Recommendations for practice include development of standardized guidelines that address caregiver assessment, education, and resources; identification of "caregiver champions" in practice settings; provision of referrals to established support organizations for caregivers (eg, Cancer Support Community, Cancer Care); and collaboration among caregiving, professional, and cancer-related organizations to advocate policy and practice changes for family caregivers.

  20. Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

    Science.gov (United States)

    Churpek, Jane E; Marquez, Rafael; Neistadt, Barbara; Claussen, Kimberly; Lee, Ming K; Churpek, Matthew M; Huo, Dezheng; Weiner, Howard; Bannerjee, Mekhala; Godley, Lucy A; Le Beau, Michelle M; Pritchard, Colin C; Walsh, Tom; King, Mary-Claire; Olopade, Olufunmilayo I; Larson, Richard A

    2016-01-15

    Risk factors for the development of therapy-related leukemia (TRL), an often lethal late complication of cytotoxic therapy, remain poorly understood and may differ for survivors of different malignancies. Survivors of breast cancer (BC) now account for the majority of TRL cases, making the study of TRL risk factors in this population a priority. Subjects with TRL after cytotoxic therapy for a primary BC were identified from the TRL registry at The University of Chicago. Those with an available germline DNA sample were screened with a comprehensive gene panel covering known inherited BC susceptibility genes. Clinical and TRL characteristics of all subjects and those with identified germline mutations were described. Nineteen of 88 survivors of BC with TRL (22%) had an additional primary cancer and 40 of the 70 survivors with an available family history (57%) had a close relative with breast, ovarian, or pancreatic cancer. Of the 47 subjects with available DNA, 10 (21%) were found to carry a deleterious inherited mutation in BRCA1 (3 subjects; 6%), BRCA2 (2 subjects; 4%), TP53 (tumor protein p53) (3 subjects; 6%), CHEK2 (checkpoint kinase 2) (1 subject; 2%), and PALB2 (partner and localizer of BRCA2) (1 subject; 2%). Survivors of BC with TRL have personal and family histories suggestive of inherited cancer susceptibility and frequently carry germline mutations in BC susceptibility genes. The data from the current study support the role of these genes in TRL risk and suggest that long-term follow-up studies of women with germline mutations who are treated for BC and functional studies of the effects of heterozygous mutations in these genes on bone marrow function after cytotoxic exposures are warranted. Cancer 2016;122:304-311. © 2015 American Cancer Society. © 2015 American Cancer Society.

  1. LINE-1 methylation is inherited in familial testicular cancer kindreds

    Directory of Open Access Journals (Sweden)

    Gadalla Shahinaz M

    2010-05-01

    Full Text Available Abstract Background Testicular germ cell tumors (TGCT are the most frequent cancers among young men. There is a clear familial component to TGCT etiology, but no high-penetrance susceptibility gene has been identified. Epigenetic aberrations of the genome represent an alternative mechanism for cancer susceptibility; and, studies suggest that epigenetic changes that influence cancer risk can be inherited through the germline. Global DNA hypomethylation has been associated with the risk of cancers of the bladder and head/neck. Methods We performed a pilot study of global methylation at long interspersed nuclear elements-1 (LINE-1 in peripheral blood DNA isolated from 466 family members of 101 multiple-case testicular cancer families. Results Investigating the correlation of LINE-1 methylation levels among parent-child pairs independent of affection status (n = 355 revealed a strong positive association only between mother-daughter (r = 0.48, P = r = 0.31, P = 0.02, suggesting gender-specific inheritance of methylation. Incorporating cancer status, we observed a strong correlation in LINE-1 methylation levels only among affected father-affected son pairs (r = 0.49, P = 0.03. There was a marginally significant inverse association between lower LINE-1 methylation levels and increased TGCT risk, compared with healthy male relatives (P = 0.049. Conclusions Our data suggest that heritability of LINE-1 methylation may be gender-specific. Further, the strong correlation between LINE-1 methylation levels among affected father-affected son pairs suggests that transgenerational inheritance of an epigenetic event may be associated with disease risk. Larger studies are needed to clarify these preliminary observations.

  2. Validity of self-reported family history of cancer: A systematic literature review on selected cancers.

    Science.gov (United States)

    Fiederling, Jonas; Shams, Ahmad Zia; Haug, Ulrike

    2016-10-01

    Evidence regarding validity of self-reported family history of cancer (FHC) has been reviewed only for breast, colorectal, prostate, ovarian, endometrial and uterine cancer. We aimed to systematically review studies assessing validity of self-reported family history for the remaining cancer sites. We searched the Medline database for relevant studies published by January 2016. We extracted information on the study design and the positive predictive value (PPV) of self-reported FHC, defined as the proportion of reported cancer diagnoses among relatives that was confirmed by a reference standard (as a measure of over-reporting). We also extracted information on sensitivity of self-reported FHC (as a measure of underreporting). Overall, 21 studies were included that provided information on the PPV of self-reported FHC for relevant cancers and four studies also provided information on sensitivity. The PPV was highest (mostly >70%) for pancreatic, lung, thyroid and urinary system cancers and for leukemia and lymphoma, while it was lowest for stomach and liver cancer. Sensitivity was highest (>70%) for pancreatic cancer, lung cancer, brain cancer, melanoma, leukemia and lymphoma. For several cancers, sample sizes were low and the number of studies limited, particularly regarding sensitivity of self-reported FHC. In conclusion, for some cancers (e.g., pancreatic cancer, lung cancer, leukemia, lymphoma) self-reported FHC can be considered sufficiently valid to be useful, for example, in preventive counseling. For several cancers, it is not sufficiently studied or the pattern is inconsistent. This needs to be taken into account when using self-reported information about FHC in clinical practice or epidemiological research. © 2016 UICC.

  3. Prevalence and predictors of conflict in the families of patients with advanced cancer: A nationwide survey of bereaved family members.

    Science.gov (United States)

    Hamano, Jun; Morita, Tatsuya; Mori, Masanori; Igarashi, Naoko; Shima, Yasuo; Miyashita, Mitsunori

    2017-07-25

    Family conflict has several adverse impacts on caregivers. Thus, there is significant value in determining the prevalence and predictors of family conflict, which can enable the health care provider to intervene if family conflict arises during end-of-life care. Accordingly, we aimed to explore the prevalence and predictors of conflict among the families of patients with advanced cancer who died in palliative care units. This study was a nationwide multicenter questionnaire survey of bereaved family members of cancer patients who died in Japanese palliative care units participating in evaluation of the quality of end-of-life care. We sent out 764 questionnaires, and 529 questionnaires (69.2%) were returned. As 70 family members refused to participate and we could not identify the answers in one questionnaire, we analyzed a total of 458 responses. The average Outcome-Family Conflict score was 13.5 ± 4.9 (maximum score: 39.5), and 42.2% of family members reported at least one family conflict during end-of-life care. Greater family conflict was significantly associated with younger family age, with family members asserting control over decision making for patient care and with communication constraints among family members, although absent family members "coming out of the woodwork" reduced family conflict. Many families of patients with advanced cancer experienced conflict during end-of-life care. Family members asserting control over decision making and communication constraints among family members after diagnosis of cancer can predict the occurrence of family conflict. Absent family members "coming out of the woodwork" might reduce family conflict in particular cultures. Copyright © 2017 John Wiley & Sons, Ltd.

  4. The Needs of Family Members of Cancer Patients

    Science.gov (United States)

    1988-01-01

    Northouse studied post mastectomy patients and their fear of recurrence. The study consisted of 30 women between the ages of 37-74 who had a mastectomy...Counseling and Health Education, 4(1), 36-39. Northouse , L.L. (1981). Mastectomy patients and the fear of recurrence. Cancer Nursing, 4(3), 213-220... Northouse , L.L. (1984). The impact of cancer on the family: an overview. International Journal of Psychiatry, 14(3), 215-242. O’Brien, M.E. (1983). An

  5. Genetic risk transmission in a family affected by familial breast cancer.

    Science.gov (United States)

    Pilato, Brunella; De Summa, Simona; Danza, Katia; Lacalamita, Rosanna; Lambo, Rossana; Sambiasi, Domenico; Paradiso, Angelo; Tommasi, Stefania

    2014-01-01

    Breast Cancer is the most common malignancy among women. Family history is the strongest single predictor of breast cancer risk, and thus great attention has been focused on BRCA1 and BRCA2 genes whose mutations lead to a high risk of developing this disease. Today, only 25% of high- and moderate-risk genes are known, suggesting the importance of the discovery of new risk modifiers. Therefore, the investigation of new polygenic alterations is of great importance, especially if considered high- and moderate-risk variants. In this study, the transmission of BRCA1-2 polymorphisms in association with the transmission of polymorphisms in the genes NUMA1, CCND1, COX11, FGFR2, TNRC9 and SLC4A7 were examined in all members of a family with the BRCA2 c.6447_6448dup mutation. This is the first study about the transmission of high-risk polygenic variants in all members of a family with a strong history of breast cancer. The results about the possible polygenic variant associations that could increase and modify the risk suggested the importance to search new variants to better manage patients and their family members.

  6. Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair.

    Science.gov (United States)

    Teh, Jiasian; Kinnear, Ned; Douglass-Molloy, Hannah; Hennessey, Derek Barrry

    2017-01-25

    A 49-year-old woman with cutaneous and uterine leiomyomas, flank pain and a family history of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome sought genetic testing. She was found to harbour a fumarate hydratase (FH) genetic mutation and a previously undetected renal tumour. The patient underwent radical nephrectomy, and remains well at follow-up. HLRCC syndrome is a rare autosomal dominant disease, with patients at increased risk for cutaneous leiomyomas, early-onset uterine leiomyomas and aggressive renal carcinoma. Although the syndrome may manifest life-threatening complications, outcomes may be improved by preventative family screening and surveillance, compelling early diagnosis. 2017 BMJ Publishing Group Ltd.

  7. BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

    Science.gov (United States)

    Weber-Lassalle, Nana; Hauke, Jan; Ramser, Juliane; Richters, Lisa; Groß, Eva; Blümcke, Britta; Gehrig, Andrea; Kahlert, Anne-Karin; Müller, Clemens R; Hackmann, Karl; Honisch, Ellen; Weber-Lassalle, Konstantin; Niederacher, Dieter; Borde, Julika; Thiele, Holger; Ernst, Corinna; Altmüller, Janine; Neidhardt, Guido; Nürnberg, Peter; Klaschik, Kristina; Schroeder, Christopher; Platzer, Konrad; Volk, Alexander E; Wang-Gohrke, Shan; Just, Walter; Auber, Bernd; Kubisch, Christian; Schmidt, Gunnar; Horvath, Judit; Wappenschmidt, Barbara; Engel, Christoph; Arnold, Norbert; Dworniczak, Bernd; Rhiem, Kerstin; Meindl, Alfons; Schmutzler, Rita K; Hahnen, Eric

    2018-01-24

    Germline mutations in the BRIP1 gene have been described as conferring a moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) pathogenesis remains controversial. To assess the role of deleterious BRIP1 germline mutations in BC/OC predisposition, 6341 well-characterized index patients with BC, 706 index patients with OC, and 2189 geographically matched female controls were screened for loss-of-function (LoF) mutations and potentially damaging missense variants. All index patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germline testing and tested negative for pathogenic BRCA1/2 variants. BRIP1 LoF mutations confer a high OC risk in familial index patients (odds ratio (OR) = 20.97, 95% confidence interval (CI) = 12.02-36.57, P mutations with familial BC was observed (OR = 1.81 95% CI = 1.00-3.30, P = 0.0623). In the subgroup of familial BC index patients without a family history of OC there was also no apparent association (OR = 1.42, 95% CI = 0.70-2.90, P = 0.3030). In 1027 familial BC index patients with a family history of OC, the BRIP1 mutation prevalence was significantly higher than that observed in controls (OR = 3.59, 95% CI = 1.43-9.01; P = 0.0168). Based on the negative association between BRIP1 LoF mutations and familial BC in the absence of an OC family history, we conclude that the elevated mutation prevalence in the latter cohort was driven by the occurrence of OC in these families. Compared with controls, predicted damaging rare missense variants were significantly more prevalent in OC (P = 0.0014) but not in BC (P = 0.0693) patients. To avoid ambiguous results, studies aimed at assessing the impact of candidate predisposition gene mutations on BC risk might differentiate between BC index patients with an OC family history and those without. In familial cases, we suggest that BRIP1 is a high-risk gene for late

  8. Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Valentin, Mev; Therkildsen, Christina; Veerla, Srinivas

    2013-01-01

    Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.......Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects....

  9. Disparities in cancer screening in individuals with a family history of breast or colorectal cancer.

    Science.gov (United States)

    Ponce, Ninez A; Tsui, Jennifer; Knight, Sara J; Afable-Munsuz, Aimee; Ladabaum, Uri; Hiatt, Robert A; Haas, Jennifer S

    2012-03-15

    Understanding racial/ethnic disparities in cancer screening by family history risk could identify critical opportunities for patient and provider interventions tailored to specific racial/ethnic groups. The authors evaluated whether breast cancer (BC) and colorectal cancer (CRC) disparities varied by family history risk using a large, multiethnic population-based survey. By using the 2005 California Health Interview Survey, BC and CRC screening were evaluated separately with weighted multivariate regression analyses, and stratified by family history risk. Screening was defined for BC as mammogram within the past 2 years for women aged 40 to 64 years; for CRC, screening was defined as annual fecal occult blood test, sigmoidoscopy within the past 5 years, or colonoscopy within the past 10 years for adults aged 50 to 64 years. The authors found no significant BC screening disparities by race/ethnicity or income in the family history risk groups. Racial/ethnic disparities were more evident in CRC screening, and the Latino-white gap widened among individuals with family history risk. Among adults with a family history for CRC, the magnitude of the Latino-white difference in CRC screening (odds ratio [OR], 0.28; 95% confidence interval [CI], 0.11-0.60) was more substantial than that for individuals with no family history (OR, 0.74; 95% CI, 0.59-0.92). Knowledge of their family history widened the Latino-white gap in CRC screening among adults. More aggressive interventions that enhance the communication between Latinos and their physicians about family history and cancer risk could reduce the substantial Latino-white screening disparity in Latinos most susceptible to CRC. Copyright © 2011 American Cancer Society.

  10. Cancer Worry, Perceived Risk and Cancer Screening in First-Degree Relatives of Patients with Familial Gastric Cancer.

    Science.gov (United States)

    Li, Jenny; Hart, Tae L; Aronson, Melyssa; Crangle, Cassandra; Govindarajan, Anand

    2016-06-01

    Currently, there is a lack of evidence evaluating the psychological impact of cancer-related risk perception and worry in individuals at high risk for gastric cancer. We examined the relationships between perceived risk, cancer worry and screening behaviors among first-degree relatives (FDRs) of patients with familial gastric cancer. FDRs of patients diagnosed with familial gastric cancer with a non-informative genetic analysis were identified and contacted. Participants completed a telephone interview that assessed socio-demographic information, cancer risk perception, cancer worry, impact of worry on daily functioning, and screening behaviors. Twenty-five FDRs completed the telephone interview. Participants reported high levels of comparative and absolute cancer risk perception, with an average perceived lifetime risk of 54 %. On the other hand, cancer-related worry scores were low, with a significant minority (12 %) experiencing high levels of worry. Study participants exhibited high levels of confidence (median = 70 %) in the effectiveness of screening at detecting a curable cancer. Participants that had undergone screening in the past showed significantly lower levels of cancer-related worry compared to those that had never undergone screening. In conclusion, individuals at high-risk for gastric cancer perceived a very high personal risk of cancer, but reported low levels of cancer worry. This paradoxical result may be attributed to participants' high levels of confidence in the effectiveness of screening. These findings highlight the importance for clinicians to discuss realistic risk appraisals and expectations towards screening with unaffected members of families at risk for gastric cancer, in an effort to help mitigate anxiety and help with coping.

  11. RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

    DEFF Research Database (Denmark)

    Larsen, Martin J; Thomassen, Mads; Tan, Qihua

    2014-01-01

    BACKGROUND: In more than 70% of families with a strong history of breast and ovarian cancers, pathogenic mutation in BRCA1 or BRCA2 cannot be identified, even though hereditary factors are expected to be involved. It has been proposed that tumors with similar molecular phenotypes also share simil...... homogeneous subtypes in order to search for new high penetrance susceptibility genes....... cancer but to a particular subtype of breast cancer. This is the first study to provide a biological link between breast cancers from family members of high-risk non-BRCA1/2 families in a systematic manner, suggesting that future genetic analysis may benefit from subgrouping families into molecularly......BACKGROUND: In more than 70% of families with a strong history of breast and ovarian cancers, pathogenic mutation in BRCA1 or BRCA2 cannot be identified, even though hereditary factors are expected to be involved. It has been proposed that tumors with similar molecular phenotypes also share similar...

  12. A diagnostic dilemma following risk-reducing surgery for BRCA1 mutation – a case report of primary papillary serous carcinoma presenting as sigmoid cancer

    Directory of Open Access Journals (Sweden)

    Nash Guy F

    2007-09-01

    Full Text Available Abstract Background Women that carry germ-line mutations for BRCA1 or BRCA2 genes are at an increased risk of developing breast, ovarian and peritoneal cancer. Primary peritoneal carcinoma is a rare tumour histologically identical to papillary serous ovarian carcinoma. Risk-reducing surgery in the form of mastectomy and oophorectomy in premenopausal women has been recommended to prevent breast and ovarian cancer occurrence and decrease the risk of developing primary peritoneal cancer. Case presentation We present a case report of a woman with a strong family history of breast cancer who underwent risk-reducing surgery in the form of bilateral salpingo-oophorectomy following a mastectomy for a right-sided breast tumour. Following the finding of a BRCA1 mutation, a prophylactic left-sided mastectomy was performed. After remaining well for twenty-seven years, she presented with rectal bleeding and altered bowel habit, and was found to have a secondary cancer of the sigmoid colon. She was finally diagnosed with primary papillary serous carcinoma of the peritoneum (PSCP. Conclusion PSCP can present many years after risk-reducing surgery and be difficult to detect. Surveillance remains the best course of management for patients with known BRCA mutations.

  13. Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results.

    Science.gov (United States)

    Sardanelli, Francesco; Podo, Franca; Santoro, Filippo; Manoukian, Siranoush; Bergonzi, Silvana; Trecate, Giovanna; Vergnaghi, Daniele; Federico, Massimo; Cortesi, Laura; Corcione, Stefano; Morassut, Sandro; Di Maggio, Cosimo; Cilotti, Anna; Martincich, Laura; Calabrese, Massimo; Zuiani, Chiara; Preda, Lorenzo; Bonanni, Bernardo; Carbonaro, Luca A; Contegiacomo, Alma; Panizza, Pietro; Di Cesare, Ernesto; Savarese, Antonella; Crecco, Marcello; Turchetti, Daniela; Tonutti, Maura; Belli, Paolo; Maschio, Alessandro Del

    2011-02-01

    : To prospectively compare clinical breast examination, mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (MRI) in a multicenter surveillance of high-risk women. : We enrolled asymptomatic women aged ≥ 25: BRCA mutation carriers; first-degree relatives of BRCA mutation carriers, and women with strong family history of breast/ovarian cancer, including those with previous personal breast cancer. : A total of 18 centers enrolled 501 women and performed 1592 rounds (3.2 rounds/woman). Forty-nine screen-detected and 3 interval cancers were diagnosed: 44 invasive, 8 ductal carcinoma in situ; only 4 pT2 stage; 32 G3 grade. Of 39 patients explored for nodal status, 28 (72%) were negative. Incidence per year-woman resulted 3.3% overall, 2.1% mammography (50%), ultrasonography (52%), or mammography plus ultrasonography (63%) (P mammography (0.83) or ultrasonography (0.82) and not significantly increased when MRI was combined with mammography and/or ultrasonography. Of 52 cancers, 16 (31%) were diagnosed only by MRI, 8 of 21 (38%) in women mammography, ultrasonography, and their combination for screening high-risk women below and over 50.

  14. Parents' Romantic Attachment Predicts Family Ritual Meaning and Family Cohesion Among Parents and Their Children With Cancer.

    Science.gov (United States)

    Santos, Susana; Crespo, Carla; Canavarro, M Cristina; Kazak, Anne E

    2017-01-01

    Family functioning is associated with adaptation in pediatric illness. This study examines the role of parents’ relationships (specifically romantic attachment) as a predictor of family ritual meaning and family cohesion for parents and their children with cancer. The dyads, 58 partnered Portuguese parents and their children in treatment, reported on family ritual meaning and family cohesion at Time 1 (T1) and after 6 months (T2). Parents also completed the questionnaire assessing romantic attachment at T1. Parents’ avoidant attachment, but not anxious attachment, predicted lower family ritual meaning and family cohesion after 6 months. T2 family ritual meaning mediated the relationship between T1 avoidant attachment and T2 family cohesion. Parents’ avoidant attachment may have a negative effect on family functioning in parents and children. Clinical intervention to address avoidant attachment or/and to promote family ritual meaning may help strengthen family ties.

  15. A family history of breast cancer will not predict female early onset breast cancer in a population-based setting

    OpenAIRE

    Klijn Jan GM; Cornelisse Cees J; van Asperen Christi J; Blom Jannet; Krol-Warmerdam Elly MM; Seynaeve Caroline; Jacobi Catharina E; de Bock Geertruida H; Devilee Peter; Tollenaar Rob AEM; Brekelmans Cecile TM; van Houwelingen Johannes C

    2008-01-01

    Abstract Background An increased risk of breast cancer for relatives of breast cancer patients has been demonstrated in many studies, and having a relative diagnosed with breast cancer at an early age is an indication for breast cancer screening. This indication has been derived from estimates based on data from cancer-prone families or from BRCA1/2 mutation families, and might be biased because BRCA1/2 mutations explain only a small proportion of the familial clustering of breast cancer. The...

  16. Screening and surveillance approaches in familial pancreatic cancer.

    Science.gov (United States)

    Canto, Marcia Irene

    2008-07-01

    Screening and surveillance for pancreatic cancer and its precursors is a relatively new indication for endoscopic ultrasound. It provides an alternative approach to the ineffective treatment of mostly incurable symptomatic pancreatic cancer. It is currently reserved for individuals with an increased risk for pancreatic ductal adenocarcinoma, such as those who have inherited genetic syndromes (eg, patients who have Peutz-Jeghers syndrome or hereditary pancreatitis, germline mutation carriers of p16 and BRCA2) and at-risk relatives of patients who have familial pancreatic cancer. This article discusses the rationale for performing screening and surveillance, the types of patients who are eligible for screening, the diagnostic modalities and technique for screening, the diagnostic yield of screening, and the ongoing research.

  17. Cancer Communication and Family Caregiver Quality of Life

    Directory of Open Access Journals (Sweden)

    Elaine Wittenberg

    2017-03-01

    Full Text Available Family caregivers have enormous communication responsibilities tied to caregiving, such as sharing the patient’s medical history with providers, relaying diagnosis and prognosis to other family members, and making decisions about care with the patient. While caregiver stress and burden has been widely documented in the caregiving literature, little is known about how communication burden, real or perceived communication challenges, impacts caregiver quality of life. In family caregiving, the City of Hope (COH Quality of Life model proposes that the caregiving experience is reciprocal to the patient experience, impacting physical, social, psychological, and spiritual quality of life. We used data from a pilot study testing a communication coaching call intervention with family caregivers of lung cancer patients to analyze caregiver reported communication burden and quality of life. We found variances in each quality of life domain, suggesting that caregiver interventions should range from self-care skill building for physical care to psycho-educational interventions that support caregiver coping and communication skill building. These findings demonstrate the importance of caregiver assessment and attention to communication burden in quality cancer care.

  18. Components of family history associated with women's disease perceptions for cancer: A report from the Family Healthware™ Impact Trial

    Science.gov (United States)

    Rubinstein, Wendy S.; O'Neill, Suzanne M.; Rothrock, Nan; Starzyk, Erin J.; Beaumont, Jennifer L.; Acheson, Louise S.; Wang, Catharine; Gramling, Robert; Galliher, James M.; Ruffin, Mack T.

    2014-01-01

    Purpose To determine the specific components of family history and personal characteristics related to disease perceptions about breast, colon, and ovarian cancers. Methods Baseline, cross-sectional data on 2,505 healthy women aged 35–65 years enrolled from 41 primary care practices in the cluster-randomized Family Healthware™ Impact Trial, assessed for detailed family history and perceived risk, perceived severity, worry, and perceived control over getting six common diseases including breast, colon, and ovarian cancers. Results Participants provided family history information on 41,841 total relatives. We found evidence of underreporting of paternal family history and lower perceived breast cancer risk with cancer in the paternal versus maternal lineage. We observed cancer-specific perceived risks and worry for individual family history elements and also found novel “spillover” effects where a family history of one cancer was associated with altered disease perceptions of another. Having a mother with early-onset breast or ovarian cancer was strongly associated with perceived risk of breast cancer. Age, parenthood, and affected lineage were associated with disease perceptions and ran counter to empiric risks. Conclusions Understanding patients' formulation of risk for multiple diseases is important for public health initiatives that seek to inform risk appraisal, influence disease perceptions, or match preventive interventions to existing risk perceptions. PMID:21150785

  19. Recording of family history is associated with colorectal cancer stage.

    Science.gov (United States)

    Kessels, Koen; de Groot, Nicolette L; Fidder, Herma H; Timmer, Robin; Stolk, Mark F J; Offerhaus, G Johan A; Siersema, Peter D

    2013-04-01

    Colorectal cancer (CRC) associated with Lynch syndrome usually presents at a relatively young age. The Revised Bethesda Guidelines advise screening for Lynch syndrome in patients diagnosed with CRC and a positive family history (FH) of CRC and other Lynch-related cancers. To evaluate recording of the FH and identify factors associated with recording in young patients with CRC. In one academic and two nonacademic hospitals, of all patients diagnosed with CRC at the age of 60 years or younger between 1999 and 2007, electronic medical records were evaluated for a recorded FH of CRC and other Lynch-related cancers. Patient and tumor characteristics were retrieved from the Dutch Comprehensive Cancer Centre and the Dutch Pathological Archive. A total of 676 patients were identified. FH was recorded in 395/676 (58%) patients. From 1999 to 2007, recording improved with an odds ratio (OR) of 1.10 [95% confidence interval (CI) 1.03-1.17] per year. Stage III CRC (OR 1.71, 95% CI 1.07-2.75) and administration of chemotherapy (OR 1.84, 95% CI 1.17-2.89) were associated with recording in multivariate analysis. Other factors, including age at diagnosis, sex, surgery, radiotherapy, proximal tumor localization, poor differentiation, and mucinous histology, were not associated with recording. A FH of CRC and other Lynch-related cancers was not recorded in ∼40% of young CRC patients and recording improved only slightly over the years. As a first step in the identification of Lynch-related cancer families, physicians should be trained to record a detailed FH in the work-up of all newly diagnosed CRC patients.

  20. Cognitive-Behavioral Coping, Illness Perception, and Family Adaptability in Oncological Patients with a Family History of Cancer.

    Science.gov (United States)

    Postolica, Roxana; Iorga, Magdalena; Petrariu, Florin Dumitru; Azoicai, Doina

    2017-01-01

    Aim. The study investigated the differences between patients with and without a family history of cancer regarding coping strategies, illness perception, and family adaptability to the disease. Material and Methods. A total of 124 patients diagnosed with cancer were included in the research (55 of them with a family history of cancer). The Cognitive Emotion Regulation Questionnaire, the Strategic Approach to Coping Scale, the Family Adaptability and Cohesion Scale, and the Illness Perception Questionnaire were applied. The data were processed using the SPSS 21 software. Results. Patients with previous records of cancer in the family get significantly higher scores for the illness coherence factor. Family satisfaction is significantly higher for patients with a genetic risk, compared to the one reported by patients who suffer from the disease but have no genetic risk. Cognitive-behavioral coping strategies and family cohesion are factors that correlate with an adaptive perception of the illness in the case of patients with a family history of cancer. Conclusion. Results are important for the construction of strategies used for patients with a family history of cancer.

  1. CDC Grand Rounds: Family History and Genomics as Tools for Cancer Prevention and Control.

    Science.gov (United States)

    Rodriguez, Juan L; Thomas, Cheryll C; Massetti, Greta M; Duquette, Debra; Avner, Lindsay; Iskander, John; Khoury, Muin J; Richardson, Lisa C

    2016-11-25

    Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1). Although hereditary cancers make up a small proportion of all cancers, the number of affected persons can be large, and the level of risk among affected persons is high. Two hereditary cancer syndromes for which public health professionals have worked to reduce the burden of morbidity and mortality are hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome.

  2. Colon and rectal cancer survival by tumor location and microsatellite instability: the Colon Cancer Family Registry.

    Science.gov (United States)

    Phipps, Amanda I; Lindor, Noralane M; Jenkins, Mark A; Baron, John A; Win, Aung Ko; Gallinger, Steven; Gryfe, Robert; Newcomb, Polly A

    2013-08-01

    Cancers in the proximal colon, distal colon, and rectum are frequently studied together; however, there are biological differences in cancers across these sites, particularly in the prevalence of microsatellite instability. We assessed the differences in survival by colon or rectal cancer site, considering the contribution of microsatellite instability to such differences. This is a population-based prospective cohort study for cancer survival. This study was conducted within the Colon Cancer Family Registry, an international consortium. Participants were identified from population-based cancer registries in the United States, Canada, and Australia. Information on tumor site, microsatellite instability, and survival after diagnosis was available for 3284 men and women diagnosed with incident invasive colon or rectal cancer between 1997 and 2002, with ages at diagnosis ranging from 18 to 74. Cox regression was used to calculate hazard ratios for the association between all-cause mortality and tumor location, overall and by microsatellite instability status. Distal colon (HR, 0.59; 95% CI, 0.49-0.71) and rectal cancers (HR, 0.68; 95% CI, 0.57-0.81) were associated with lower mortality than proximal colon cancer overall. Compared specifically with patients with proximal colon cancer exhibiting no/low microsatellite instability, patients with distal colon and rectal cancers experienced lower mortality, regardless of microsatellite instability status; patients with proximal colon cancer exhibiting high microsatellite instability had the lowest mortality. Study limitations include the absence of stage at diagnosis and cause-of-death information for all but a subset of study participants. Some patient groups defined jointly by tumor site and microsatellite instability status are subject to small numbers. Proximal colon cancer survival differs from survival for distal colon and rectal cancer in a manner apparently dependent on microsatellite instability status. These

  3. Hereditary breast cancer. Risk assessment of patients with a family history of breast cancer.

    Science.gov (United States)

    Warner, E.; Heisey, R. E.; Goel, V.; Carroll, J. C.; McCready, D. R.

    1999-01-01

    OBJECTIVES: To assist family physicians in stratifying women with a family history of breast cancer as being at low, moderate, or high risk of hereditary breast cancer (HBC). To present guidelines for managing each of these risk groups. QUALITY OF EVIDENCE: A MEDLINE search was conducted from January 1976 to December 1997 using key words related to breast cancer risk factors, risk assessment, prevention, and screening. Risk stratification criteria were derived empirically and assessed using retrospective chart review. MAIN FINDINGS: Although up to 20% of women in the general population have a family history of breast cancer, less than 5% are at high risk for HBC. Certain features in a family history suggest increased risk. Women with none of these features are at low risk for HBC and should have annual clinical breast examinations and mammography at least every 2 years starting at age 50. Women with one or more features of increased risk who do not meet criteria for referral to a familial cancer clinic are at moderate risk for HBC and should begin annual mammography and clinical breast examination at age 40. Women who meet referral criteria are at high risk for HBC and should be counseled regarding referral to a familial cancer clinic for more detailed risk assessment and consideration for genetic testing. All women should be taught proper breast self-examination technique and encouraged but not pressured to practise it monthly for life. CONCLUSION: A simple algorithm can assist physicians in stratifying women into low, moderate, and high HBC risk groups. Management strategies for each group are given in this article and the two following (Heisey et al page 114 and Carroll et al page 126). PMID:10889863

  4. Meta-analysis of microRNA-183 family expression in human cancer studies comparing cancer tissues with noncancerous tissues.

    Science.gov (United States)

    Zhang, Qing-He; Sun, Hong-Min; Zheng, Rui-Zhi; Li, Ying-Chun; Zhang, Qian; Cheng, Pan; Tang, Zhen-Hai; Huang, Fen

    2013-09-15

    MicroRNA-183 (miR-183) family is proposed as promising biomarkers for early cancer detection and accurate prognosis as well as targets for more efficient treatment. The results of their expression feature in cancer tissues are inconsistent and controversy still exists in identifying them as new biomarkers of cancers. Therefore, to systemically evaluate the most frequently reported cancers in which miR-183 family members were up- or down-regulated is critical for further investigation on physiological impact of its aberrant regulation in specific cancers. The published studies that compared the level of miR-183 family expression in cancer tissues with those in noncancerous tissues were reviewed by the meta-analysis with a vote-counting strategy. Among the 49 included studies, a total of 18 cancers were reported, with 11 cancers reported in at least two studies. In the panel of miR-183 family members' expression analysis, colorectal cancer and prostate cancer ranked at the top among consistently reported cancer types with up-regulated feature. Bladder cancer, lung cancer and hepatocellular carcinoma were the third most frequently reported cancer types with significant over-expression of miR-96, miR-182 and miR-183 respectively. Breast cancer and gastric cancer were presented with inconsistent regulations and the members of this family had their own distinct regulated features in other different cancers. MiR-183 family, either individually or as a cluster, may be useful prognostic markers and/or therapeutic targets in several cancers. Further studies and repeat efforts are still required to determine the role of miR-183 family in various cancer progressions. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Organization and Running of the First Comprehensive Hereditary Cancer Clinic in India

    Directory of Open Access Journals (Sweden)

    Rajkumar T

    2005-11-01

    Full Text Available Abstract Hereditary cancers are thought to account for around 5% of cancers, particularly breast/ovarian and colorectal cancers. In India there is a paucity of data on hereditary cancers and the mutations in some of the common genes linked to hereditary cancers, such as BRCA1, BRCA2, hMSH2 and hMLH1. The country's first comprehensive hereditary cancer clinic was established in February 2002. The article describes the organization and running of the Clinic. It also discusses some of the social issues relevant to the given population in running the Hereditary Cancer Clinic.

  6. Molecular analysis of precursor lesions in familial pancreatic cancer.

    Directory of Open Access Journals (Sweden)

    Tatjana Crnogorac-Jurcevic

    Full Text Available With less than a 5% survival rate pancreatic adenocarcinoma (PDAC is almost uniformly lethal. In order to make a significant impact on survival of patients with this malignancy, it is necessary to diagnose the disease early, when curative surgery is still possible. Detailed knowledge of the natural history of the disease and molecular events leading to its progression is therefore critical.We have analysed the precursor lesions, PanINs, from prophylactic pancreatectomy specimens of patients from four different kindreds with high risk of familial pancreatic cancer who were treated for histologically proven PanIN-2/3. Thus, the material was procured before pancreatic cancer has developed, rather than from PanINs in a tissue field that already contains cancer. Genome-wide transcriptional profiling using such unique specimens was performed. Bulk frozen sections displaying the most extensive but not microdissected PanIN-2/3 lesions were used in order to obtain the holistic view of both the precursor lesions and their microenvironment. A panel of 76 commonly dysregulated genes that underlie neoplastic progression from normal pancreas to PanINs and PDAC were identified. In addition to shared genes some differences between the PanINs of individual families as well as between the PanINs and PDACs were also seen. This was particularly pronounced in the stromal and immune responses.Our comprehensive analysis of precursor lesions without the invasive component provides the definitive molecular proof that PanIN lesions beget cancer from a molecular standpoint. We demonstrate the need for accumulation of transcriptomic changes during the progression of PanIN to PDAC, both in the epithelium and in the surrounding stroma. An identified 76-gene signature of PDAC progression presents a rich candidate pool for the development of early diagnostic and/or surveillance markers as well as potential novel preventive/therapeutic targets for both familial and sporadic

  7. Universality of ageing: family caregivers for elderly cancer patients

    Directory of Open Access Journals (Sweden)

    Lea eBaider

    2014-07-01

    Full Text Available The world population is ageing, with the proportion of older people (65+ years expected to reach 21% in 2050 and to exceed the number of younger people (aged 15 or less for the first time in history. Because cancer is particularly a chronic disease of older people, a large increase in the number of elderly patients with cancer is anticipated. The estimated number of new cancer cases worldwide among people over 65 is expected to grow from about 6 million in 2008 to more than 11 million during the coming decade. By 2030, individuals over 65 are expected to account for 70% of all cancer patients in the Western world.Along with the increase in oncology patients, the number of older people caring for their ill spouses or other relatives is also growing, with the ensuing toll on these caregivers causing major concern, especially in western countries.In different societies the characteristics of family caregiver stressors, cultural norms concerning care giving, and the availability of support have a huge impact on those providing care. Any study of older caregivers of older cancer patients requires an integrative evaluation of ageing that takes into account cultural, social, psychological, and behavioral variables.This review proposes a critical discussion of the multidimensionality of the caregiving and of the impact that age, culture and gender have on it.

  8. Incidence and mortality of colorectal cancer in individuals with a family history of colorectal cancer.

    Science.gov (United States)

    Schoen, Robert E; Razzak, Anthony; Yu, Kelly J; Berndt, Sonja I; Firl, Kevin; Riley, Thomas L; Pinsky, Paul F

    2015-11-01

    Little is known about the change in risk conferred by family history of colorectal cancer (CRC) as a person ages. We evaluated the effect of family history on CRC incidence and mortality after 55 years of age, when the risk of early onset cancer had passed. We collected data from participants in the randomized, controlled Prostate, Lung, Colorectal and Ovarian cancer screening trial of flexible sigmoidoscopy versus usual care (55-74 years old, no history of CRC), performed at 10 US centers from 1993 to 2001. A detailed family history of colorectal cancer was obtained at enrollment, and subjects were followed for CRC incidence and mortality for up to 13 years. Among 144,768 participants, 14,961 subjects (10.3%) reported a family of CRC. Of 2090 incident cases, 273 cases (13.1%) had a family history of CRC; among 538 deaths from CRC, 71 (13.2%) had a family history of CRC. Overall, family history of CRC was associated with an increased risk of CRC incidence (hazard ratio [HR], 1.30; 95% confidence interval [CI], 1.10-1.50; P70 years of age: HR, 1.14; 95% CI, 0.93-1.45; P trend = .59). After 55 years of age, subjects with 1 FDR with CRC had only a modest increase in risk for CRC incidence and death; age of onset in the FDR was not significantly associated with risk. Individuals with ≥2 FDRs with CRC had continued increased risk in older age. Guidelines and clinical practice for subjects with a family history of CRC should be modified to align CRC testing to risk. ClinicalTrials.gov number, NCT00002540. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

  9. Does family history of prostate cancer affect outcomes following radiotherapy?

    Science.gov (United States)

    Bagshaw, Hilary; Ruth, Karen; Horwitz, Eric M; Chen, David Y T; Buyyounouski, Mark K

    2014-02-01

    To examine family history (FH) as a prognostic factor following radiotherapy (RT). Between 1989 and 2007, 1711 men with clinically localized prostate cancer and complete family history who had received RT (median RT dose=74Gy) without androgen deprivation therapy were analyzed. FH was defined as any prostate cancer in a first degree relative. For the biochemical failure (BF) outcome, this sample size has 85% power to detect a hazard ratio of 1.56 for positive versus negative FH. With a median follow-up of 71 months, there was no significant difference in the distribution of Gleason score (GS) or prostate specific antigen (PSA) based on FH. A positive FH was not an independent predictor of BF, distant metastasis (DM), prostate cancer specific mortality (PCSM), or overall mortality (OM) in Cox proportional multivariable analysis. On further analysis in a Cox proportional multivariable analysis, men with two or more first degree relatives with prostate cancer had a significantly higher likelihood of BF and DM than those with no FH, although there was no difference in PCSM or OM. Men with a positive FH (23%) were more likely to be younger, have a lower PSA, and non-palpable disease. There was no interaction between a positive FH and neither race nor treatment era (pre-PSA vs. PSA era). A positive FH is not a prognostic factor following RT and should not alter standard treatment recommendations. Patients with two or more first degree relatives with prostate cancer had a higher likelihood of BF and DM, but there was no effect on survival. There was no interaction between a positive FH and African American race or treatment era. A positive FH was however, associated with more favorable PSA values and T-stage that may be the result of earlier screening. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  10. Helping women and their families cope with the impact of gynecologic cancer.

    Science.gov (United States)

    Lowdermilk, D; Germino, B B

    2000-01-01

    The impact of gynecologic cancer on the woman and her family depends on psychosocial factors and cancer-specific factors. Family assessments determine how the family is adapting to the woman's illness. Nursing interventions that families say are helpful include providing physical care, providing information, and giving support. Strategies used by families to cope with the stress and emotional strain of caregiving include taking time for themselves, maintaining a sense of humor, and focusing on the present.

  11. Family history of colorectal cancer is not associated with colorectal cancer survival regardless of microsatellite instability status.

    Science.gov (United States)

    Phipps, Amanda I; Ahnen, Dennis J; Campbell, Peter T; Win, Aung Ko; Jenkins, Mark A; Lindor, Noralane M; Gryfe, Robert; Potter, John D; Newcomb, Polly A

    2014-08-01

    Individuals with a family history of colorectal cancer in first-degree relatives have an elevated risk of developing colorectal cancer themselves, particularly colorectal cancer exhibiting high microsatellite instability (MSI-high). Given that MSI-high colorectal cancer is associated with a favorable prognosis, it is plausible that having a family history of colorectal cancer could, in turn, be favorably associated with colorectal cancer survival. This study comprised N = 4,284 incident colorectal cancer cases enrolled in the Colon Cancer Family Registry via population-based cancer registries. Using Cox proportional hazards regression, we evaluated the association between family history and both overall and disease-specific survival, accounting for MSI status and tumor site via stratified analyses and statistical adjustment. There was no evidence of association between family history and overall [hazard ratio (HR), 0.92; 95% confidence interval (CI), 0.79-1.08] or disease-specific survival (HR, 1.03; 95% CI, 0.85-1.24) for all cases combined, after adjustment for MSI status or tumor site. Only for rectal cancer cases was colorectal cancer family history modestly associated with more favorable overall survival (HR, 0.75; 95% CI, 0.56-0.99). Although individuals with a family history of colorectal cancer were more likely to have MSI-high tumors than those with nonfamilial disease, this did not translate to a survival benefit. Overall, there is no evidence that family history of colorectal cancer is associated with colorectal cancer survival; however, specific mechanisms underlying family history may have prognostic impact and merit further study. ©2014 American Association for Cancer Research.

  12. Possible consequences of applying guidelines to healthy women with a family history of breast cancer

    NARCIS (Netherlands)

    van Asperen, CJ; Tollenaar, RAEM; Krol-Warmerdam, EMM; Blom, Jannet; Hoogendoorn, WE; Seynaeve, CMJC; Brekelmans, CTM; Devilee, P; Cornelisse, CJ; Klijn, JGM; de Bock, GH

    Possible effects of consistently applying published guidelines on healthy women with breast cancer in their family history were analysed. We investigated 1060 unrelated breast cancer patients and calculated the numbers of first-degree relatives that would be referred to a familial cancer clinic if

  13. Proven non-carriers in BRCA families have an earlier age of onset of breast cancer

    NARCIS (Netherlands)

    Vos, Janet; de Bock, G.H.; Teixeira, N.; van der Kolk, D.M.; Jansen, Liesbeth; Mourits, M.J.E.; Oosterwijk, J.C.

    Background: Risk estimates for proven non-carriers in BRCA mutation families are inconsistent for breast cancer and lacking for ovarian cancer. We aimed to assess the age-related risks for breast and ovarian cancer for proven non-carriers in these families. Methods: A consecutive cohort study

  14. Influence of Family History of Cancer on Engagement in Protective Health Behaviors

    Science.gov (United States)

    Amuta, Ann O.; Barry, Adam E.

    2015-01-01

    Background: Approximately 1580 people die from cancer each day. Family history is highlighted as an especially important indicator of cancer risk. Purpose: To determine whether having a family member with cancer influences preventive behaviors (e.g., smoking, physical activity, and screenings). Methods: We conducted a secondary data analysis…

  15. Spiritual Coping: A Gateway to Enhancing Family Communication During Cancer Treatment.

    Science.gov (United States)

    Prouty, Anne M; Fischer, Judith; Purdom, Ann; Cobos, Everardo; Helmeke, Karen B

    2016-02-01

    The researchers examined the spiritual coping, family communication, and family functioning of 95 participants in 34 families by an online survey. Multilevel linear regression was used to test whether individuals' and families' higher endorsement of more use of spiritual coping strategies to deal with a member's cancer would be associated with higher scores on family communication and family functioning, and whether better communication would also be associated with higher family functioning scores. Results revealed that spiritual coping was positively associated with family communication, and family communication was positively associated with healthier family functioning. The researchers provide suggestions for further research.

  16. Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer

    DEFF Research Database (Denmark)

    Myrhøj, T; Andersen, M-B; Bernstein, I

    2008-01-01

    AIM: The aim of this study was to evaluate if Urine Cytology (UC) is an appropriate screening procedure for detecting urinary tract neoplasia at an early stage in persons at risk in Hereditary Non-Polyposis Colorectal Cancer families. METHOD: In the National Danish HNPCC-register persons at risk...

  17. Communication and technology in genetic counseling for familial cancer.

    Science.gov (United States)

    Lynch, H T; Snyder, C; Stacey, M; Olson, B; Peterson, S K; Buxbaum, S; Shaw, T; Lynch, P M

    2014-03-01

    When a cancer predisposing germline mutation is detected in an index case, the presence of the underlying syndrome is confirmed and the potential for predictive testing of at-risk relatives is established. However, the reporting of a positive family history does not routinely lead to communication of information about risk to close, much less distant relatives. This review summarizes information technology utilized to address penetration or 'reach' of knowledge of risk within extended families, including the use of telephone and video counseling to reach distant patients, and anticipate novel internet-based processes for communication between investigators and relatives. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  18. The lived experience of Lebanese family caregivers of cancer patients.

    Science.gov (United States)

    Doumit, Myrna A A; Huijer, Huda Abu-Saad; Kelley, Jane H; Nassar, Nada

    2008-01-01

    The purpose of this study was to explore, through in-depth semistructured interviews, the lived experience of Lebanese family caregivers of cancer patients and acquire a better knowledge of the meaning and interpretation of their experience. The study design was based on the Utrecht School of Phenomenology. This study followed purposeful sampling, in which 9 participants with a mean age of 51 years were selected. Data were analyzed using the hermeneutic phenomenological approach based on the Utrecht School of Phenomenology. Eight core themes describing the participants' lived experience emerged from the interviews: living with fears and uncertainty, loss of happiness, feeling of added responsibility, living in a state of emergency, sharing the pain, living the dilemma of truth telling, disturbed by being pitied, and reliance on God. The results of this study challenge nurses to be conscious of the nature and difficulties that family caregivers are encountering.

  19. [Importance of psychological support for families of children with cancer].

    Science.gov (United States)

    Kisić, Tatjana; Konstantinidis, Nada; Kolarović, Jovanka; Kaćanski, Natasa

    2012-01-01

    A family of a child with cancer needs continuous help and support from medical and other professionals, relatives, friends and community at the moment of making diagnosis and during the treatment. The goal of this study was to find out the most frequent sources of individual or community based psychological support, reported by parents of children suffering from malignant diseases. We focused on the help received at the moment of making diagnosis and within the first and second year of treatment. We analyzed data obtained by a questionnaire specially designed for parents of children suffering from different malignancies. The poll was conducted from April 2007 till October 2009 at the Hematology/Oncology Department of Children's Hospital of Novi Sad and it included 72 parents of both sexes, whose children were treated at our Department in the period from 2007 to 2009. The children were of different age. The parents selected the following forms of support as the most important: support given by the emotional partner and other family members (together with sick and healthy child), communication with and accessibility of hospital stuff (physicians at the first place, but also psychologists, nurses, other parents, support groups...). They also expressed their need for contacting friends, relatives and other close people. The selected forms of support are extremely important for the patients (regardless of age) and for their family. All forms of organized and professionally conducted psycho-social support of patients and their family result in higher quality of psychological survival during the treatment and further rehabilitation of patients after rejoining their primary social environment. Family is the primary and the most important social surrounding within which disease both happens and is resolved. Adequate support can help family to overcome such crises, thus leading to the positive outcome.

  20. Organization and Running of the First Comprehensive Hereditary Cancer Clinic in India

    OpenAIRE

    Rajkumar, T; Soumittra, N; Vidubala, E; Sridevi, V; Mahajan, V; Ramanan, SG; Vijaya, S

    2005-01-01

    Abstract Hereditary cancers are thought to account for around 5% of cancers, particularly breast/ovarian and colorectal cancers. In India there is a paucity of data on hereditary cancers and the mutations in some of the common genes linked to hereditary cancers, such as BRCA1, BRCA2, hMSH2 and hMLH1. The country's first comprehensive hereditary cancer clinic was established in February 2002. The article describes the organization and running of the Clinic. It also discusses some of the social...

  1. Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency.

    Science.gov (United States)

    Katz, Lior H; Advani, Shailesh; Burton-Chase, Allison M; Fellman, Bryan; Polivka, Katrina M; Yuan, Ying; Lynch, Patrick M; Peterson, Susan K

    2017-04-01

    Communication gaps in families with unexplained mismatch repair (MMR) deficiency (UMMRD) could negatively impact the screening behaviors of relatives of individual with UMMRD. We evaluated cancer risk perception, screening behaviors, and family communication among relatives of colorectal cancer (CRC) patients with UMMRD. Fifty-one family members of 17 probands with UMMRD completed a questionnaire about cancer risk perception, adherence to Lynch syndrome (LS) screening recommendations, and communication with relatives. Clinical data about the probands were obtained from medical records. Thirty-eight participants (78%) were worried from having cancer and twenty-one participants (42%) had undergone colonoscopy in the past 2 years, as recommended for LS families. In terms of screening for extracolonic cancers, only two eligible participants (3.9%) were screened for gastric, endometrial (10.0%), and ovarian (9.5%) cancers. Additionally, 5 participants (10%) underwent genetic counseling. Most participants were not told by anyone to be screened for extracolonic cancers (84, 85, and 95% for gastric, ovarian, and endometrial cancers, respectively). A minority of family members of CRC patients with UMMRD follow cancer screening as recommended for LS families. Health care providers should encourage patients with UMMRD to share information on LS-related cancers screening, especially extracolonic cancers, with their relatives.

  2. Survival in common cancers defined by risk and survival of family members

    Directory of Open Access Journals (Sweden)

    Jianguang Ji

    2011-10-01

    Full Text Available Studies on survival between familial and sporadic cancers have been inconclusive and only recent data on a limited number of cancers are available on the concordance of survival between family members. In this review, we address these questions by evaluating the published and unpublished data from the nation-wide Swedish Family-Cancer Database and a total of 13 cancer sites were assessed. Using sporadic cancer as reference, HRs were close to 1.0 for most of the familial cancers in both the offspring and parental generations, which suggested that survival in patients with familial and sporadic cancers was equal, with an exception for ovarian cancer with a worse prognosis. Compared to offspring whose parents had a poor survival, those with a good parental survival had a decreased risk of death for most cancers and HR was significantly decreased for cancers in the breast, prostate, bladder, and kidney. For colorectal and nervous system cancers, favorable survival between the generations showed a borderline significance. These data are consistent in showing that both good and poor survival in certain cancers aggregate in families. Genetic factors are likely to contribute to the results. These observations call for intensified efforts to consider heritability in survival as one mechanism regulating prognosis in cancer patients.

  3. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care

    Directory of Open Access Journals (Sweden)

    Palmero Edenir I

    2009-08-01

    Full Text Available Abstract Background Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed to reduce risk, has become increasingly relevant. A previous study in Southern Brazil has shown that a family history suggestive of these syndromes may be prevalent at the primary care level. Development of a simple and sensitive instrument, easily applicable in primary care units, would be particularly helpful in underserved communities in which identification and referral of high-risk individuals is difficult. Methods A simple 7-question instrument about family history of breast, ovarian and colorectal cancer, FHS-7, was developed to screen for individuals with an increased risk for hereditary breast cancer syndromes. FHS-7 was applied to 9218 women during routine visits to primary care units in Southern Brazil. Two consecutive samples of 885 women and 910 women who answered positively to at least one question and negatively to all questions were included, respectively. The sensitivity, specificity and positive and negative predictive values were determined. Results Of the 885 women reporting a positive family history, 211 (23.8%; CI95%: 21.5–26.2 had a pedigree suggestive of a hereditary breast and/or breast and colorectal cancer syndrome. Using as cut point one positive answer, the sensitivity and specificity of the instrument were 87.6% and 56.4%, respectively. Concordance between answers in two different applications was given by a intra-class correlation (ICC of 0.84 for at least one positive answer. Temporal stability of the instrument was adequate (ICC = 0.65. Conclusion A simple instrument for the identification of the most common hereditary breast cancer syndrome phenotypes, showing good specificity and temporal stability was developed and could be used as a screening tool in primary care to refer at

  4. Total energy intake and breast cancer risk in sisters: the Breast Cancer Family Registry.

    Science.gov (United States)

    Zhang, Fang Fang; John, Esther M; Knight, Julia A; Kaur, Manleen; Daly, Mary; Buys, Saundra; Andrulis, Irene L; Stearman, Beth; West, Dee; Terry, Mary Beth

    2013-01-01

    Energy restriction inhibits mammary tumor development in animal models. Epidemiologic studies in humans generally do not support an association between dietary energy intake and breast cancer risk, although some studies suggest a more complex interplay between measures of energy intake, physical activity, and body size. We examined the association between total energy intake jointly with physical activity and body mass index (BMI) and the risk of breast cancer among 1,775 women diagnosed with breast cancer between 1995 and 2006 and 2,529 of their unaffected sisters, enrolled in the Breast Cancer Family Registry. We collected dietary data using the Hawaii-Los Angeles Multiethnic Cohort food frequency questionnaire. Using conditional logistic regression to estimate the odds ratios (OR) and 95 % confidence intervals (CI) associated with total energy intake, we observed an overall 60-70 % increased risk of breast cancer among women in the highest quartile of total energy intake compared to those in the lowest quartile (Q4 vs. Q1: OR = 1.6, 95 % CI: 1.3-2.0; P (trend) total energy intake and breast cancer risk across different strata of physical activity and BMI. Our results suggest that within sisters, high energy intake may increase the risk of breast cancer independent of physical activity and body size. If replicated in prospective studies, then these findings suggest that reductions in total energy intake may help in modifying breast cancer risk.

  5. Familial Risk and Heritability of Cancer Among Twins in Nordic Countries

    DEFF Research Database (Denmark)

    Mucci, Lorelei A.; Hjelmborg, Jacob B.; Harris, Jennifer R.

    2016-01-01

    Nordic twins, there was significant excess familial risk for cancer overall and for specific types of cancer, including prostate, melanoma, breast, ovary, and uterus. This information about hereditary risks of cancers may be helpful in patient education and cancer risk counseling....

  6. Familial clustering of cancer in two tertiary care hospitals in Nairobi ...

    African Journals Online (AJOL)

    Setting: Outpatient cancer clinics at Kenyatta National Hospital (KNH) and Radiotherapy Clinic at Nairobi Hospital. Subjects: Patients with a tissue histological or cytological diagnosis of cancer. Main outcome measures: A reported family history of cancer. Results: A total number of 485 cancer patients were recruited, 382, ...

  7. Dietary perceptions and beliefs among families with children undergoing therapy for cancer

    Directory of Open Access Journals (Sweden)

    Sidharth Totadri

    2017-08-01

    Conclusions: Misconceptions regarding diet are prevalent among families with children undergoing therapy for cancer. Formulation of guidelines for nutrition and a robust nutritional education program are essential.

  8. Mammography Screening Among African-American Women with a Family History of Breast Cancer

    National Research Council Canada - National Science Library

    Lipkus, Issac

    1997-01-01

    Comparisons were made between African-American women with and without a family history of breast cancer with respect to mammography screening, attitudes towards mammography screening and perceptions...

  9. FAMily-Oriented Support (FAMOS): development and feasibility of a psychosocial intervention for families of childhood cancer survivors.

    Science.gov (United States)

    Salem, Hanin; Johansen, Christoffer; Schmiegelow, Kjeld; Winther, Jeanette Falck; Wehner, Peder Skov; Hasle, Henrik; Rosthøj, Steen; Kazak, Anne E; E Bidstrup, Pernille

    2017-02-01

    We developed and tested the feasibility of a manualized psychosocial intervention, FAMily-Oriented Support (FAMOS), a home-based psychosocial intervention for families of childhood cancer survivors. The aim of the intervention is to support families in adopting healthy strategies to cope with the psychological consequences of childhood cancer. The intervention is now being evaluated in a nationwide randomized controlled trial (RCT). FAMOS is based on principles of family systems therapy and cognitive behavioral therapy, and is delivered in six sessions at home. Families were recruited from all four pediatric oncology departments in Denmark after the end of intensive cancer treatment. We evaluated the feasibility of the intervention and of a RCT design for comparing the intervention with usual care. The evaluation was conducted among families enrolled in the study by tracking procedures and parents' evaluations. A total of 68 families (68 mothers, 60 fathers, 68 children with cancer and 73 siblings) were enrolled, with a participation rate of 62% of families. Fathers were highly represented (88% of families); also families with single parents (12%) and parents with basic education (7-12 years of primary, secondary, and grammar school education) were represented (12%). The dropout rate was 12% of families (all in the control group), and two families did not complete the intervention because of relapse. Evaluation by parents in the intervention group showed overall satisfaction with the format, timing, and content of the intervention. The results indicate that the FAMOS intervention is feasible in terms of recruitment, retention, and acceptability. The effects of the intervention on post-traumatic stress, depression, anxiety, family functioning, and quality of life will be reported after the nationwide RCT has been completed.

  10. Genetic variation at 8q24, family history of cancer, and upper gastrointestinal cancers in a Chinese population.

    Science.gov (United States)

    Tarleton, Heather P; Chang, Shen-Chih; Park, Sungshim Lani; Cai, Lin; Ding, Baoguo; He, Na; Hussain, Shehnaz K; Jiang, Qingwu; Mu, Li-Na; Rao, Jianyu; Wang, Hua; You, Nai-Chieh Y; Yu, Shun-Zhang; Zhao, Jin-Kou; Zhang, Zuo-Feng

    2014-03-01

    Genetic variation at 8q24 is associated with prostate, bladder, breast, colorectal, thyroid, lung, ovarian, UADT, liver and stomach cancers. However, a role for variation at 8q24 in familial clustering of upper gastrointestinal cancers has not been studied. In order to explore potential inherited susceptibility, we analyzed epidemiologic data from a population-based case-control study of upper gastrointestinal cancers from Taixing, China. The study population includes 204 liver, 206 stomach, and 218 esophageal cancer cases and 415 controls. Associations between 8q24 rs1447295, rs16901979, rs6983267 and these cancers were stratified by family history of cancer. Odds ratios and 95% confidence intervals were adjusted for potential confounders: age, sex, education, tobacco smoking, alcohol consumption, and BMI at interview. We also adjusted for hepatitis B and aflatoxin (liver cancer) and Helicobacter pylori (stomach cancer). In a dominant model, among those with a family history of cancer, rs1447295 was positively associated with liver cancer (OR(adj) 2.80; 95% CI 1.15-6.80). Heterogeneity was observed (P(heterogeneity) = 0.029) with rs6983267 and liver cancer, with positive association in the dominant model among those with a family history of cancer and positive association in the recessive model among those without a family history of cancer. When considered in a genetic risk score model, each additional 8q24 risk genotype increased the odds of liver cancer by two-fold among those with a family history of cancer (OR(adj) 2.00; 95% CI 1.15-3.47). These findings suggest that inherited susceptibility to liver cancer may exist in the Taixing population and that variation at 8q24 might be a genetic component of that inherited susceptibility.

  11. A culturally adapted family intervention for African American families coping with parental cancer: outcomes of a pilot study.

    Science.gov (United States)

    Davey, Maureen P; Kissil, Karni; Lynch, Laura; Harmon, La-Rhonda; Hodgson, Nancy

    2013-07-01

    The primary objective of this 2-year pilot study was to evaluate the effectiveness of a culturally adapted family intervention in improving family communication among African American parents coping with cancer and their school-age children. A secondary objective was to determine its impact on other symptoms of psychosocial distress (depression and anxiety). The third objective was to assess for acceptability and feasibility. Using a two-arm pre-intervention and post-intervention prospective design, 12 African American families received five bi-monthly sessions of either a culturally adapted family intervention (n=7 families) or psycho-education treatment (n=5 families). Parents and their children completed pre-intervention and post-intervention questionnaires assessing perceptions of family communication, quality of their relationship, and symptoms of depression. School-age children additionally completed a questionnaire assessing their levels of anxiety. Consumer satisfaction was also evaluated at post-intervention. Parents and school-age children who completed the culturally adapted family intervention reported significantly better communication with each other and were more satisfied compared with the psycho-education control group. No changes were noted in symptoms of anxiety or depression. The culturally adapted family intervention was acceptable based on our findings, families' feedback, and rates of retention. Feasibility is uncertain because our oncology clinic approach to recruitment was slower than expected. Providing culturally adapted family intervention programs to African American families who are coping with parental cancer may result in improved family communication. This pilot study serves as the first step in the development of culturally adapted family intervention programs to help African American families cope with parental cancer. Copyright © 2012 John Wiley & Sons, Ltd.

  12. Family Rituals and Quality of Life in Children With Cancer and Their Parents: The Role of Family Cohesion and Hope.

    Science.gov (United States)

    Santos, Susana; Crespo, Carla; Canavarro, M Cristina; Kazak, Anne E

    2015-08-01

    Family rituals are associated with adaptive functioning in pediatric illness, including quality of life (QoL). This article explores the role of family cohesion and hope as mediators of this association in children with cancer and their parents. Portuguese children with cancer (N = 389), on- and off-treatment, and one of their parents completed self-report measures. Structural equation modeling was used to examine direct and indirect links between family rituals and QoL. When children and parents reported higher levels of family rituals, they also reported more family cohesion and hope, which were linked to better QoL. At the dyadic level, children's QoL was related to parents' family rituals through the child's family cohesion. This model was valid across child's age-group, treatment status, and socioeconomic status. Family rituals are important in promoting QoL in pediatric cancer via family cohesion and hope individually and via family cohesion in terms of parent-child interactions. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  13. Family Rituals and Quality of Life in Children With Cancer and Their Parents: The Role of Family Cohesion and Hope

    Science.gov (United States)

    Crespo, Carla; Canavarro, M. Cristina; Kazak, Anne E.

    2015-01-01

    Objective Family rituals are associated with adaptive functioning in pediatric illness, including quality of life (QoL). This article explores the role of family cohesion and hope as mediators of this association in children with cancer and their parents. Methods Portuguese children with cancer (N = 389), on- and off-treatment, and one of their parents completed self-report measures. Structural equation modeling was used to examine direct and indirect links between family rituals and QoL. Results When children and parents reported higher levels of family rituals, they also reported more family cohesion and hope, which were linked to better QoL. At the dyadic level, children’s QoL was related to parents’ family rituals through the child’s family cohesion. This model was valid across child’s age-group, treatment status, and socioeconomic status. Conclusions Family rituals are important in promoting QoL in pediatric cancer via family cohesion and hope individually and via family cohesion in terms of parent–child interactions. PMID:25775914

  14. Role of ErbB receptors in cancer cell migration and invasion

    Directory of Open Access Journals (Sweden)

    Aline eAppert-Collin

    2015-11-01

    Full Text Available Growth factors mediate their diverse biologic responses (regulation of cellular proliferation, differentiation, migration and survival by binding to and activating cell-surface receptors with intrinsic protein kinase activity named Receptor Tyrosine Kinases (RTKs. About 60 RTKs have been identified and can be classified into more than 16 different receptor families. Their activity is normally tightly controlled and regulated. Overexpression of RTK proteins or functional alterations caused by mutations in the corresponding genes or abnormal stimulation by autocrine growth factor loops contribute to constitutive RTK signaling, resulting in alterations in the physiological activities of cells. The ErbB receptor family of RTKs comprises four distinct receptors: the EGFR (also known as ErbB1/HER1, ErbB2 (neu, HER2, ErbB3 (HER3 and ErbB4 (HER4. ErbB family members are often overexpressed, amplified, or mutated in many forms of cancer, making them important therapeutic targets. EGFR has been found to be amplified in gliomas and non-small-cell lung carcinoma while ErbB2 amplifications are seen in breast, ovarian, bladder, non-small-cell lung carcinoma, as well as several other tumor types. Several data have shown that ErbB receptor family and its downstream pathway regulate epithelial-mesenchymal transition, migration, and tumor invasion by modulating extracellular matrix components. Recent findings indicate that extracellular matrix components such as matrikines bind specifically to EGF receptor and promote cell invasion. In this review, we will present an in-depth overview of the structure, mechanisms, cell signaling, and functions of ErbB family receptors in cell adhesion and migration. Furthermore, we will describe in a last part the new strategies developed in anti-cancer therapy to inhibit ErbB family receptor activation.

  15. HER family receptor expression and prognosis in pancreatic cancer.

    Science.gov (United States)

    Bittoni, Alessandro; Mandolesi, Alessandra; Andrikou, Kalliopi; Santoni, Matteo; Alfonsi, Simona; Lanese, Andrea; Loretelli, Cristian; Pellei, Chiara; Piva, Francesco; Scarpelli, Marina; Cascinu, Stefano

    2015-07-22

    HER family receptors play a key role in tumor progression in several malignancies, such as colorectal, lung or breast cancer. The aims of this study were to investigate expression of HER-1, HER-2 and HER-3 in pancreatic cancer (PC) samples and evaluate the association between HER-family receptor expression and patients' clinical outcomes. Tissue samples from 91 PC patients were subjected to immunohistochemical staining to assess the expression of HER-1, HER-2 and HER-3. Semiquantitative scores of zero (no staining or staining in less than 10% of cancer cells), 1+, 2+ or 3+ were assigned to each sample based on the intensity of staining for HER receptors. Scores of 2+ or 3+ were defined as positive staining. HER-1 overexpression was observed in 41 out of 91 samples (45.1%), while HER-2 was not overexpressed in any of the analyzed samples. HER-3 was overexpressed in 37 samples (40.7%) and was found to be associated with advanced TNM stage. In particular, HER-3 was overexpressed in 12 out of 16 stage IV patients (75%) compared with only 33.3% of stage I-III patients (p = 0.02). Among 79 patients with available survival data, the 6 patients with strong HER-3 expression (score 3+) had a shorter survival compared with remaining patients (median overall survival 6.9 months vs. 12.3 months, respectively). HER-1 and HER-3 were found to be expressed in a significant proportion of PC patients. Strong HER-3 expression represents an indicator of poor prognosis in PC patients, being associated with advanced stage and shorter survival.

  16. Stress and Marital Adjustment in Families of Children with Cancer.

    Science.gov (United States)

    Lavi, Iris; Fladeboe, Kaitlyn; King, Kevin; Kawamura, Joy; Friedman, Debra; Compas, Bruce; Breiger, David; Gurtovenko, Kyrill; Lengua, Liliana; Katz, Lynn Fainsilber

    2018-02-06

    Pediatric cancer is highly stressful for parents. The current prospective study examines the impact of several stressors (financial strain, life threat, treatment intensity, treatment-related events and negative life events) on the trajectory of marital adjustment across the first year following diagnosis. We examined whether average level of stressors across the year was related to (1) levels of marital adjustment at the end of the first year of treatment and (2) the rate of change in marital adjustment. One hundred and thirty families of children newly diagnosed with cancer (M age=6.33 years, SD = 3.61) participated. Primary caregivers provided 12 monthly reports on marital adjustment and stressors. Multilevel Models indicated that although marital adjustment was stable across the first year on average, random effect estimates suggested that this was the result of differing trajectories between families (e.g., some increasing and others decreasing). Five individual stress constructs and a cumulative stress composite were then used to predict this variability. Higher average economic strain was related to consistently poorer marital adjustment across time. Higher average frequency of treatment-related events and negative life events were associated with decreasing adjustment over time and lower adjustment at the end of the first year of treatment. Perception of life threat and treatment intensity were not associated with final levels or trajectory of adjustment. Finally, higher cumulative stress was associated with consistently poorer marital adjustment across time. Implications for identification of at-risk families are discussed, and importance of delivering tailored interventions for this population. This article is protected by copyright. All rights reserved.

  17. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

    DEFF Research Database (Denmark)

    Andersson, Ulrika; Wibom, Carl; Cederquist, Kristina

    2014-01-01

    BACKGROUND: Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several can...

  18. Family functioning and perceived support from nurses during cancer treatment among Danish and Australian patients and their families

    DEFF Research Database (Denmark)

    Dieperink, Karin B; Coyne, Elisabeth; Creedy, Debra K

    2018-01-01

    such as cancer. However, family functioning and supportive care from nurses may vary across cultures and settings. DESIGN AND METHODS: A descriptive, cross sectional comparative design with patients and family members from Denmark and Australia. Participants were asked to fill in translated versions...

  19. The pathology of familial breast cancer: Immunohistochemistry and molecular analysis.

    Science.gov (United States)

    Osin, P P; Lakhani, S R

    1999-01-01

    Extensive studies of BRCA1- and BRCA2-associated breast tumours have been carried out in the few years since the identification of these familial breast cancer predisposing genes. The morphological studies suggest that BRCA1 tumours differ from BRCA2 tumours and from sporadic breast cancers. Recent progress in immunohistochemistry and molecular biology techniques has enabled in-depth investigation of molecular pathology of these tumours. Studies to date have investigated issues such as steroid hormone receptor expression, mutation status of tumour suppressor genes TP53 and c-erbB2, and expression profiles of cell cycle proteins p21, p27 and cyclin D1. Despite relative paucity of data, strong evidence of unique biological characteristics of BRCA1-associated breast cancer is accumulating. BRCA1-associated tumours appear to show an increased frequency of TP53 mutations, frequent p53 protein stabilization and absence of imunoreactivity for steroid hormone receptors. Further studies of larger number of samples of both BRCA1- and BRCA2-associated tumours are necessary to clarify and confirm these observations.

  20. A dog pedigree with familial medullary thyroid cancer.

    Science.gov (United States)

    Lee, Jia-Jing; Larsson, Catharina; Lui, Weng-Onn; Höög, Anders; Von Euler, Henrik

    2006-11-01

    Multiple endocrine neoplasia (MEN) is defined as concurrent neoplasia or hyperplasia in more than one endocrine gland. MEN is well known in humans and has also been reported in small animals. We report on a dog family of a mixed breed with Alaskan malamute as a major influence, where three members developed thyroid carcinomas and another dog had clinical signs mimicking the other three but without a confirmed diagnosis. The age of onset of the tumour was between 96-109 months. Clinical, biochemical and immunohistochemical examinations revealed that the affected individuals typically demonstrated symptoms including calcitonin positive thyroid cancer, hypothyroidism and chronic dermatitis. In addition, elevated serum calcium and multinodular adrenocortical hyperplasia were demonstrated in a single member. The diagnosis observed is similar to the familial form of medullary thyroid carcinoma (FMTC) in human. This is the first report of FMTC in dog. Up to 95% of FMTC and MEN2 is known to be caused by activating mutations in the RET gene. The dog Ret gene was analysed as a candidate in this pedigree. The complete dog Ret genomic sequence was predicted in silico. The lack of demonstratable Ret mutation suggests the involvement of alternative predisposing mutation in this pedigree. The unique occurrence of familial MTC makes this potentially an important model in further defining the genetic basis of MTC.

  1. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

    Science.gov (United States)

    Kaurah, Pardeep; MacMillan, Andrée; Boyd, Niki; Senz, Janine; De Luca, Alessandro; Chun, Nicki; Suriano, Gianpaolo; Zaor, Sonya; Van Manen, Lori; Gilpin, Cathy; Nikkel, Sarah; Connolly-Wilson, Mary; Weissman, Scott; Rubinstein, Wendy S; Sebold, Courtney; Greenstein, Robert; Stroop, Jennifer; Yim, Dwight; Panzini, Benoit; McKinnon, Wendy; Greenblatt, Marc; Wirtzfeld, Debrah; Fontaine, Daniel; Coit, Daniel; Yoon, Sam; Chung, Daniel; Lauwers, Gregory; Pizzuti, Antonio; Vaccaro, Carlos; Redal, Maria Ana; Oliveira, Carla; Tischkowitz, Marc; Olschwang, Sylviane; Gallinger, Steven; Lynch, Henry; Green, Jane; Ford, James; Pharoah, Paul; Fernandez, Bridget; Huntsman, David

    2007-06-06

    Hereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and lobular breast cancer. To determine whether recurring germline CDH1 mutations occurred due to independent mutational events or common ancestry. Thirty-eight families diagnosed clinically with hereditary diffuse gastric cancer were accrued between November 2004 and January 2006 and were analyzed for CDH1 mutations as part of an ongoing study at the British Columbia Cancer Agency. Twenty-six families had at least 2 gastric cancer cases with 1 case of diffuse gastric cancer in a person younger than 50 years; 12 families had either a single case of diffuse gastric cancer diagnosed in a person younger than 35 years or multiple cases of diffuse gastric cancer diagnosed in persons older than 50 years. Classification of family members as carriers or noncarriers of CDH1 mutations. Haplotype analysis to assess recurring mutations for common ancestry was performed on 7 families from this study and 7 previously reported families with the same mutations. Thirteen mutations (6 novel) were identified in 15 of the 38 families (40% detection rate). The 1137G>A splicing mutation and the 1901C>T (A634V) missense/splicing mutation occurred on common haplotypes in 2 families but on different haplotypes in a third family. The 2195G>A (R732Q) missense/splicing mutation occurred in 2 families on different haplotypes. The 2064-2065delTG mutation occurred on a common haplotype in 2 families. Two families from this study plus 2 additional families carrying the novel 2398delC mutation shared a common haplotype, suggesting a founder effect. All 4 families originate from the southeast coast of Newfoundland. Due to concentrations of lobular breast cancer cases, 2 branches of this family had been diagnosed as having hereditary breast cancer and were tested for BRCA mutations. Within these 4 families, the cumulative risk

  2. Population-based study of the prevalence of family history of cancer: implications for cancer screening and prevention.

    Science.gov (United States)

    Ramsey, Scott D; Yoon, Paula; Moonesinghe, Ramal; Khoury, Muin J

    2006-09-01

    Family history assessment is gaining importance as a potential public health tool to help determine susceptibility to common cancers. Population-based data on the prevalence of having a family history of common cancers are scant. We queried survey questions from the National Health Interview Survey, an annual nationwide survey of approximately 36,000 households in the United States, to determine the prevalence of persons reporting one or more first-degree relatives with breast, colorectal, lung, prostate, or ovarian cancer. Breast cancer was the most common condition noted for family members (7.74% of respondents), followed by lung cancer (7.10%), colorectal cancer (4.96%), prostate cancer (4.68%), and ovarian cancer (1.79%). A family history of cancer was more commonly reported by older persons, whites, women, and high-income groups. A substantial proportion of persons in the United States report having a close family member with cancer, and thus may be eligible for earlier or more aggressive cancer screening services.

  3. Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer.

    Science.gov (United States)

    Kallenberg, F G J; Aalfs, C M; The, F O; Wientjes, C A; Depla, A C; Mundt, M W; Bossuyt, P M M; Dekker, E

    2017-09-21

    Identifying a hereditary colorectal cancer (CRC) syndrome or familial CRC (FCC) in a CRC patient may enable the patient and relatives to enroll in surveillance protocols. As these individuals are insufficiently recognized, we evaluated an online family history tool, consisting of a patient-administered family history questionnaire and an automated genetic referral recommendation, to facilitate the identification of patients with hereditary CRC or FCC. Between 2015 and 2016, all newly diagnosed CRC patients in five Dutch outpatient clinics, were included in a trial with a stepped-wedge design, when first visiting the clinic. Each hospital continued standard procedures for identifying patients at risk (control strategy) and then, after a predetermined period, switched to offering the family history tool to included patients (intervention strategy). After considering the tool-based recommendation, the health care provider could decide on and arrange the referral. Primary outcome was the relative number of CRC patients who received screening or surveillance recommendations for themselves or relatives because of hereditary CRC or FCC, provided by genetic counseling. The intervention effect was evaluated using a logit-linear model. With the tool, 46/489 (9.4%) patients received a screening or surveillance recommendation, compared to 35/292 (12.0%) in the control group. In the intention-to-treat-analysis, accounting for time trends and hospital effects, this difference was not statistically significant (p = 0.58). A family history tool does not necessarily assist in increasing the number of CRC patients and relatives enrolled in screening or surveillance recommendations for hereditary CRC or FCC. Other interventions should be considered.

  4. Enhanced cytotoxicity of optimized liposomal genistein via specific induction of apoptosis in breast, ovarian and prostate carcinomas.

    Science.gov (United States)

    Phan, Vu; Walters, Jarvis; Brownlow, Bill; Elbayoumi, Tamer

    2013-12-01

    Clinical use of genistein against cancer is limited by its extremely low aqueous solubility, poor bioavailability and pharmacokinetics. Based on structural analogy with steroidal compounds, liposomal vehicle compositions were designed and optimized for maximum incorporation of genistein's flavonoid structure. Model conventional and stealth liposomes of genistein (GenLip)--incorporating unsaturated phospholipids and cholesterol--have demonstrated enhanced drug solubilization (over 350-folds > aqueous drug solution), shelf-life stability, and extended release profile. Owing to effective cellular delivery, preservation of genistein's antioxidant activity was confirmed through marked neutralization of peroxides via GenLip, in both quantitative and microscopic fluorescent-probe oxidation assays. Furthermore, significant broad-spectrum anticancer efficacy of GenLip, in murine and human cancer cell lines (p liposomes shows optimal loading capacity and physico-chemical properties, which improved cellular delivery and specific pro-apototic effectiveness of incorporated drug, against various cancers.

  5. Colonoscopy reduced distal colorectal cancer risk and excess cancer risk associated with family history.

    Science.gov (United States)

    Morois, Sophie; Cottet, Vanessa; Racine, Antoine; Clavel-Chapelon, Françoise; Carbonnel, Franck; Bastide, Nadia; Boutron-Ruault, Marie-Christine

    2014-10-01

    Colonoscopy efficacy at preventing proximal colorectal cancer (CRC) is questioned, and little is known about efficacy in high-risk versus medium-risk populations. We investigated the relationship between colonoscopy screening, family history of colorectal cancer (FHCC), and CRC risk by site. Among 92,078 women of the E3N prospective cohort, 692 CRCs have been diagnosed after a median follow-up of 15.4 years. Cox proportional hazard models estimated adjusted hazards ratios according to subsites of cancer and FHCC. A personal history of colonoscopy (PHC; n = 37,470) was associated with decreased rectal and distal colon cancer risks (hazard ratio (HR) = 0.57; 95% Confidence Interval (CI) = 0.42-0.78 and HR = 0.37; 95% CI = 0.26-0.52, respectively), but not proximal colon cancer risk (HR = 0.87; 95% CI = 0.64-1.18). In women with no prior colonoscopy, those with FHCC had a 80% higher CRC risk than those without FHCC. In women with previous colonoscopy, CRC risk was similar in women with and without FHCC (p for interaction = 0.04). Results showed colonoscopy ability to prevent distal cancers, but not proximal cancers in women. Colonoscopy screening also reduced the excess risk of women with FHCC to that of women with no FHCC.

  6. CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer

    DEFF Research Database (Denmark)

    Margolin, Sara; Eiberg, Hans; Lindblom, Annika

    2007-01-01

    C in 763 breast cancer patients with a defined family history and 760 controls from the Stockholm region. The breast cancer patients originated from; a population-based cohort (n = 452) and from a familial cancer clinic (n = 311), the detailed family history was known in both groups. RESULTS: The variant...... was found in 2.9% of the familial cases from the population-based cohort and in 1.9% from the familial cancer clinic. In total 2.2% of the patients with a family history of breast cancer carried the variant compared to 0.7% of the controls (p = 0.03). There was no increased prevalence in sporadic patients...

  7. Families' experience of oncogenetic counselling: accounts from a heterogeneous hereditary cancer risk population.

    Science.gov (United States)

    Mendes, Álvaro; Sousa, Liliana

    2012-06-01

    This paper reports the results of semi-structured family interviews conducted with a purposive sample of nine families (comprising 50 individuals) involved in cancer genetic counselling at a Portuguese public hospital. Qualitative analysis resulted in thematic categories illustrating: (1) how families go through cancer genetic counselling (eliciting risk awareness, the motivators, risk management, the psychosocial context of familial engagement in genetic counselling, and the familial pathways of cancer risk tracking); and (2) how families incorporate genetic risk into family life (strategies for family resilience, and the meanings and values that permeate the experience). Families have recognised the value of genetic counselling in enabling participants to take measures to confront disease risk; however, the experience was dominated by distressing feelings. A set of ethical-relational principles guided the experience. Familial experiences on genetic counselling and tracking of cancer susceptibility encompass a sense of trajectory that takes the form of an historical and intergenerational narrative process, linking past, present and possible futures. Such process implies an ongoing set of individual and interactional experiences taking place over time. Specific changes associated with the illness timeline and with individual and family developmental lifespan transitions are thus acknowledged. These results may help genetics healthcare practitioners understand how families perceive, respond to and accommodate cancer risk counselling, and thus illuminate family-oriented tenets for planning and practice.

  8. Primary Caregivers' Support for Female Family Members With Breast or Gynecologic Cancer.

    Science.gov (United States)

    Han, Jung-Hee; Han, Song-Hee; Lee, Myo-Suk; Kwon, Hye-Jin; Choe, Kwisoon

    2016-01-01

    Female patients with cancer depend on loved ones; thus, family support is pivotal to assist patients in successfully adjusting to life with treatment routines. Our study explored the experiences of primary caregivers who provide care and support for female family members with cancer. This study used a qualitative phenomenological research approach. Interviews and journaling about the caregiving experience were conducted with the family members of female cancer patients-6 spouses, 11 daughters, 1 son, and 1 younger sister. Data analysis involved Giorgi's 3-step phenomenological analysis method. The central theme of the primary caregivers' supportive care for their female family member with cancer was "being with" her. This was composed of the following themes: "being there for her via efforts," "living through feelings of guilt and anxiety," and "lessons learned from cancer in the family." This study reveals an integrated picture of family caregivers' supportive caring experiences. By providing both positive and negative aspects of the caregiving experience, the findings in this study will provide a theoretical foundation to develop more successful support programs for family caregivers of female patients with cancer. Family-oriented education programs need to be developed to include both the family and the patient in the long journey of cancer. The family caregivers' feelings of guilt regarding the cause of the illness and feelings of anxiety about the uncertainty of the illness should be assessed and managed during the course of the patients' treatment and care.

  9. Impact of family history of breast cancer on tumour characteristics, treatment, risk of second cancer and survival among men with breast cancer.

    Science.gov (United States)

    Bouchardy, Christine; Rapiti, Elisabetta; Fioretta, Gerald; Schubert, Hyma; Chappuis, Pierre; Vlastos, Georges; Benhamou, Simone

    2013-11-12

    Male breast cancer patients have a higher risk of developing a second primary cancer, but whether this risk differs according to the family history of breast or ovarian cancers remains to be elucidated. We aimed to determine the effect of a positive family history among men diagnosed with breast cancer on tumour characteristics, treatment, second cancer occurrence and overall survival. We included 46 patients with known information on the family history of breast or ovarian cancer recorded at the Geneva Cancer Registry between 1970 and 2009. We compared patients with and without a family history with chi-square of heterogeneity, risk of second cancer with standardised incidence ratios (SIRs), and overall survival by Kaplan-Meier methods. Approximately 20% of men with breast cancer had a positive family history. No differences were observed between men with and without familial risk except that patients with increased risk were more likely to receive radiotherapy and hormone therapy when compared with patients without familial risk. This more complete therapy is likely to be explained by the heightened awareness of cancer treatment among breast cancer patients with affected family members. Six men developed a second cancer. SIRs for second cancer were not significantly increased among patients with or without familial risk (1.93, 95% confidence interval [CI] 0.23-6.97 and 1.04, 95% CI 0.28-2.66, respectively). Overall survival was not significantly different between the two groups. Prognosis was similar among patients with or without familial risk. Our results are however based on small numbers and larger registry-based cohorts of males with precise data on familial risk are still warranted.

  10. Familial Breast Cancer in Costa Rica: An Initial Approach

    Directory of Open Access Journals (Sweden)

    Adriana Ramírez Monge

    2004-09-01

    Full Text Available Cancer is a worldwide problem because of its high rates of incidence and associated mortality. By 2000, more than 6.2 million people died from this illness worldwide. Among all types of cancer, breast cancer is one of the most studied. Each year, one million new cases are diagnosed around the world. We can classify breast cancer into two main kinds: sporadic cases and those which are a product of inherited genetic alterations. Approximately 5-10% of breast cancer cases are the result of inherited mutations, or alterations in breast cancer susceptibility genes, BRCA1 and BRCA2. Like other countries, Costa Rica possesses high rates of incidence and mortality for breast cancer. According to the "Registro Nacional de Tumores" (National Office of Tumor Records, in 2000 breast cancer had the highest rate of incidence and in 2002 it had the highest rate of mortality in comparison to other types of cancer. For this reason and the generalized lack of knowledge in the field we conducted an epidemiological research on breast cancer patients from Hospital San Juan de Dios, San José, Costa Rica, to find families with a history of breast cancer, and to determine the occurrence of familial cases within the population studied. So far, we have found 23 families, within which we discovered very informative cases that have rendered the identification of a pattern of inheritance. These findings allow us to announce that in Costa Rica there are several cases of inherited breast cancer and that we need more research is needed to improve the prevention, control, and treatment of this disease. Rev. Biol. Trop. 52(3: 531-536. Epub 2004 Dic 15.El cáncer es un problema a nivel mundial porque posee altas tasas de incidencia y mortalidad. Para el año 2000 más de 6.2 millones de personas murieron a causa de esta enfermedad. El cáncer de mama es uno de los tipos de cáncer más estudiados en el mundo por las mismas razones. Cada año, se diagnostican más de un mill

  11. The taboo of cancer: the experiences of cancer disclosure by Iranian patients, their family members and physicians.

    Science.gov (United States)

    Zamanzadeh, Vahid; Rahmani, Azad; Valizadeh, Leila; Ferguson, Caleb; Hassankhani, Hadi; Nikanfar, Ali-Reza; Howard, Fuchsia

    2013-02-01

    The objective of this study is to describe the experiences of cancer disclosure by Iranian cancer patients, their family members and physicians. Twenty cancer patients, ten family members and eight physicians participated in this study. Data were collected via semi-structured, in-depth interviews and analyzed using qualitative content analysis. Three categories were identified: cancer avoidance, a climate of non-disclosure and mutual concern. The findings demonstrated that cancer is a taboo subject and the word cancer, as well as other indicative terms, was rarely used in daily communication. A climate of non-disclosure predominated because patients were the last to know their diagnosis, they were unaware of their prognosis, and family members and physicians employed strategies to conceal this information. The mutual concern of patients, family members and physicians was the main reason that cancer was not discussed. Cancer is a taboo subject in Iran that is maintained and reinforced primarily because of the mutual concern of patients, family members and physicians. The first step to address this taboo and inform cancer patients of their diagnosis would be to understand and help mitigate the individual, family and social consequences of disclosure. Copyright © 2011 John Wiley & Sons, Ltd.

  12. Family history and risk of pregnancy-associated breast cancer (PABC).

    Science.gov (United States)

    Johansson, Anna L V; Andersson, Therese M-L; Hsieh, Chung-Cheng; Cnattingius, Sven; Dickman, Paul W; Lambe, Mats

    2015-05-01

    The risk of breast cancer is at least two-fold increased in young women with a family history of breast cancer. Pregnancy has a dual effect on breast cancer risk; a short-term increase followed by a long-term protection. We investigated if the risk of breast cancer during and within 10 years following pregnancy is affected by a family history of breast cancer. We followed a cohort of women aged 15-44 years between 1963 and 2009 identified in Swedish population-based registers. Family history was defined as having a mother or sister with breast cancer. We estimated incidence rate ratios of breast cancer during pregnancy and time intervals up to 10 years post-delivery, with a focus on pregnancy-associated breast cancer (PABC), defined as breast cancer during pregnancy or within 2 years post-delivery. In 3,452,506 women, there were 15,548 cases of breast cancer (1208 were PABC). Compared to nulliparous women, the risk of breast cancer was decreased during pregnancy, similar during first year and increased during second year post-delivery. The pattern was similar in women with or without family history of breast cancer. A peak in risk was observed 5-6 years following the first birth regardless of family history. After a second birth, this peak was only present in women with a family history. Our results indicate that women with a family history of breast cancer do not have a different breast cancer risk during and within 10 years following pregnancy compared to women without a family history.

  13. Patients' experience with cancer care: a qualitative study in family practice.

    Science.gov (United States)

    Suija, Kadri; Ilves, Kadi; Ööpik, Pille; Maaroos, Heidi-Ingrid; Kalda, Ruth

    2013-06-01

    Continuity is an important aspect of cancer care that is often a challenge owing to the movement of patients between family practice, cancer clinics, and hospitals. To investigate the experiences of cancer patients in relation to continuity of care. A qualitative study was conducted in a family practice setting. Semi-structured interviews were used for data collection. 10 cancer patients with a wide variation in their disease duration and experiences with medical care were interviewed. Open questions were used to encourage patients to express their personal experiences with cancer care. The interviews were recorded, transcribed and analysed by three researchers using thematic analysis. Cancer patients experienced a lack of information concerning cancer and its treatment. They also perceived that the cancer treatment made them suffer. In the patients' opinion, the family doctor has a limited role in cancer care. However, the patients felt that the family doctor should be aware of their health. The patients' satisfaction with the oncologist's care was high. They considered that their role in cancer care was to mediate an exchange of information between the oncologist and the family doctor. Cancer patients experience continuity of care in several ways: continuity in cancer care should be implemented by co-ordinating activities, such as regular check-ups, a clear timeframe and provision of adequate information. In addition, communication between the primary and secondary sector could be improved.

  14. Linguistic indicators of patient, couple, and family adjustment following breast cancer.

    Science.gov (United States)

    Robbins, Megan L; Mehl, Matthias R; Smith, Hillary L; Weihs, Karen L

    2013-07-01

    This study examined how language reflective of emotional and social processes during a cancer-related discussion relates to patient, couple, and family adjustment after breast cancer. It investigated whether emotional expression or relational focus, manifested in language use, indicates healthy family coping following breast cancer. Family members each completed measures of adjustment (Family Environment Scale, Dyadic Adjustment Scale, and patient Profile of Mood States) and engaged in a 15-min family discussion about how they have coped with breast cancer. Transcripts from the discussion were submitted to a text-analysis software program to obtain frequency of positive and negative emotion words, and personal pronouns spoken by each family member. The relationship between self-reports of adjustment and frequency of language use during the family discussion was analyzed with regression models. Partners' positive emotion words were indicative of better family adjustment, patients' negative emotion words indicated greater family conflict, and sons' and daughters' anger words indicated poorer adjustment, whereas their anxiety words indicated better family adjustment. Partner we-talk was related to better dyadic adjustment, and couples' 'you' was somewhat related to worse adjustment at all levels. Important information about how a family copes with breast cancer can be obtained by attending to families' emotional and relational language. This study suggests that clinicians and members of families' support networks can gauge how well a family has adapted after the breast cancer experience by attending to the type of words that each family member uses to describe how they coped with breast cancer. Copyright © 2012 John Wiley & Sons, Ltd.

  15. Life events may contribute to family communication about cancer risk following BRCA1/2 testing.

    Science.gov (United States)

    Lapointe, Julie; Côté, Claudia; Bouchard, Karine; Godard, Béatrice; Simard, Jacques; Dorval, Michel

    2013-04-01

    We assessed whether certain life events contributed to the communication about cancer risk within families who have undergone BRCA1/2 testing. We also explored what type of resources participants would have valued to help in supporting family communication about genetic information. Two hundred and forty-six individuals (218 women, 28 men) who received a BRCA1/2 genetic test result 3 to 10 years earlier (mean of 6.4 years) participated in a telephone interview. Participants were asked about the occurrence of a number of life events (cancer diagnosis, death, uptake of prophylactic surgery, and providing care to a family member with cancer) in their family since their BRCA1/2 test result disclosure and, for each occurrence, whether it fostered family communication about cancer risk. A total of 182 participants (74 %) reported that they or one of their relatives received a cancer diagnosis, 176 (72 %) reported that someone died in their family, and 73 (30 %) stated that they or one of their relatives undertook a prophylactic surgery. During this period, 109 participants (44 %) also provided care for a family member who had cancer. Among participants who reported these life events, family communication was fostered by these events in proportions varying from 50 % (death) to 69 % (cancer diagnosis). Our results indicate that life events may contribute to family communication about cancer risk. Further research is needed to determine whether these events provide a "window of opportunity" to reach family members, address their needs and concerns about cancer, update family cancer history, and introduce genetic counseling and risk assessment.

  16. The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.

    Science.gov (United States)

    Teo, Zhi L; Sawyer, Sarah D; James, Paul A; Mitchell, Gillian; Trainer, Alison H; Lindeman, Geoffrey J; Shackleton, Kylie; Cicciarelli, Linda; Southey, Melissa C

    2013-12-01

    The familial aggregation of breast cancer has been well-described with approximately 25% of breast cancers attributable to inherited mutations in currently known breast cancer susceptibility genes. PALB2 c.3113G>A (p.Trp1038*) is a protein-truncating mutation which has been associated with high estimated risk of breast cancer in Australian women (91%; 95% CI = 44-100) to age 70 years. This study screened for PALB2 c.3113G>A in germline DNA representing 871 unrelated individuals from "high-risk" breast and/or ovarian cancer families evaluated in the setting of a Familial Cancer Centre in Australia. The PALB2 c.3113G>A mutation was identified in eight of 871 probands (0.92%) from these families. Median age of diagnosis was 42 years. Five of these eight women had contra-lateral breast cancers. Available data suggests that PALB2 c.3113G>A is a rare mutation with estimated breast cancer risks similar in magnitude to that associated with BRCA2 mutations. Although the proportion of high-risk women carrying this PALB2 mutation is low, research efforts should continue in order to effect its translation into clinical genetic testing practice.

  17. The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels

    Science.gov (United States)

    Sung, Pi-Lin; Wen, Kuo-Chang; Chen, Yi-Jen; Chao, Ta-Chung; Tsai, Yi-Fang; Tseng, Ling-Ming; Qiu, Jian-Tai Timothy; Chao, Kuan-Chong; Wu, Hua-Hsi; Chuang, Chi-Mu

    2017-01-01

    An important role of genetic factors in the development of breast cancer (BC) or ovarian cancer (OC) in Taiwanese (ethnic Chinese) patients has been suggested. However, other than germline BRCA1 or BRCA2 mutations, which are related to hereditary breast-ovarian cancer (HBOC), cancer-predisposition genes have not been well studied in this population. The aim of the present study was to more accurately summarize the prevalence of genetic mutations in HBOC patients using various gene panels ranging in size from BRCA1/2 alone to multi-gene panels. Among 272 HBOC patients analyzed, the prevalence of BRCA1, BRCA2 and non-BRCA1/2 pathogenic mutations was 7.7% (21/272), 6.8% (16/236) and 8.2% (13/159), respectively. The total mutation rate was 18.4% (50/272). Although no founder mutations were identified in this study, two recurrent mutations, BRCA1 (c.3607C>T) and BRCA2 (c.5164_5165 delAG), were found. The main pathogenic/likely pathogenic mutations in non-BRCA1/2 genes included ATM, BRIP1, FANCI, MSH2, MUYTH, RAD50, RAD51C and TP53. The prevalence rate of gene mutations in HBOC patients did not differ with respect to whether BC or OC was the first diagnosis or they presented a family history of the disease or their age at diagnosis. HBOC patients with both BC and OC exhibited a higher prevalence rate of mutations (50.0%) than patients with OC (25.0%) or BC (8.6%) alone. In conclusion, evaluation of hereditary cancer risk in Taiwan HBOC patients, particularly individuals with double cancer, is strongly encouraged. Panel testing can yield additional genomic information, and widespread and well-designed panel testing will help in assessing more accurate mutational prevalence of risk genes. PMID:28961279

  18. The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

    Science.gov (United States)

    Sung, Pi-Lin; Wen, Kuo-Chang; Chen, Yi-Jen; Chao, Ta-Chung; Tsai, Yi-Fang; Tseng, Ling-Ming; Qiu, Jian-Tai Timothy; Chao, Kuan-Chong; Wu, Hua-Hsi; Chuang, Chi-Mu; Wang, Peng-Hui; Huang, Chi-Ying F

    2017-01-01

    An important role of genetic factors in the development of breast cancer (BC) or ovarian cancer (OC) in Taiwanese (ethnic Chinese) patients has been suggested. However, other than germline BRCA1 or BRCA2 mutations, which are related to hereditary breast-ovarian cancer (HBOC), cancer-predisposition genes have not been well studied in this population. The aim of the present study was to more accurately summarize the prevalence of genetic mutations in HBOC patients using various gene panels ranging in size from BRCA1/2 alone to multi-gene panels. Among 272 HBOC patients analyzed, the prevalence of BRCA1, BRCA2 and non-BRCA1/2 pathogenic mutations was 7.7% (21/272), 6.8% (16/236) and 8.2% (13/159), respectively. The total mutation rate was 18.4% (50/272). Although no founder mutations were identified in this study, two recurrent mutations, BRCA1 (c.3607C>T) and BRCA2 (c.5164_5165 delAG), were found. The main pathogenic/likely pathogenic mutations in non-BRCA1/2 genes included ATM, BRIP1, FANCI, MSH2, MUYTH, RAD50, RAD51C and TP53. The prevalence rate of gene mutations in HBOC patients did not differ with respect to whether BC or OC was the first diagnosis or they presented a family history of the disease or their age at diagnosis. HBOC patients with both BC and OC exhibited a higher prevalence rate of mutations (50.0%) than patients with OC (25.0%) or BC (8.6%) alone. In conclusion, evaluation of hereditary cancer risk in Taiwan HBOC patients, particularly individuals with double cancer, is strongly encouraged. Panel testing can yield additional genomic information, and widespread and well-designed panel testing will help in assessing more accurate mutational prevalence of risk genes.

  19. Brief Report: Family cancer history affecting risk of colorectal cancer in a prospective cohort of Chinese women

    OpenAIRE

    Murphy, Gwen; Shu, Xiao Ou; Gao, Yu-Tang; Ji, Bu-Tian; Cook, Michael Blaise; Yang, Gong; Li, Hong-Lan; Rothman, Nathaniel; Zheng, Wei; Chow, Wong-Ho

    2009-01-01

    An elevated risk of colorectal cancer has been associated with sporadic colorectal cancer in first degree relatives, mostly in Western populations. Limited data exists from traditionally low-risk areas, such as Asia, where the prevalence of risk factors may differ. We examined the association of family history of cancer and subsequent colorectal cancer risk in a cohort of traditionally low-risk Chinese women.

  20. Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry.

    Directory of Open Access Journals (Sweden)

    Xuejuan Jiang

    Full Text Available Recent genome-wide studies identified a risk locus for colorectal cancer at 18q21, which maps to the SMAD7 gene. Our objective was to confirm the association between SMAD7 SNPs and colorectal cancer risk in the multi-center Colon Cancer Family Registry.23 tagging SNPs in the SMAD7 gene were genotyped among 1,592 population-based and 253 clinic-based families. The SNP-colorectal cancer associations were assessed in multivariable conditional logistic regression.Among the population-based families, both SNPs rs12953717 (odds ratio, 1.29; 95% confidence interval, 1.12-1.49, and rs11874392 (odds ratio, 0.80; 95% confidence interval, 0.70-0.92 were associated with risk of colorectal cancer. These associations were similar among the population- and the clinic-based families, though they were significant only among the former. Marginally significant differences in the SNP-colorectal cancer associations were observed by use of nonsteroidal anti-inflammatory drugs, cigarette smoking, body mass index, and history of polyps.SMAD7 SNPs were associated with colorectal cancer risk in the Colon Cancer Family Registry. There was evidence suggesting that the association between rs12953717 and colorectal cancer risk may be modified by factors such as smoking and use of nonsteroidal anti-inflammatory drugs.

  1. [Adolescent confronting cancer and its place in the family].

    Science.gov (United States)

    Chavand, Aurélie; Grandjean, Hélène; Vignes, Michel

    2007-04-01

    Adolescent medicine is expanding in Europe with particular attention being given to cancer of adolescents and its treatment. At a time where specialised units for adolescents are being born, it is essential to collect the current knowledge on the pathological impact of the illness in this age period whose limits themselves are often blurred (13-21 years or 15-25 years). Adolescence is a transition between childhood and adulthood, during which one seeks psychological and emotional development. Cancer, by its direct repercussion on the adolescent and also by the disorganisation of the family, can involve risks impending the process of maturation and can also be a purveyor of psychological after-affects. The occurrence of the illness can isolate the adolescent and leak to a restriction of the psychological investment. The reality of possible death can hinder the ill adolescent from developing his natural opposition to the adults who represent authority such as parents or nurses, thereby hindering access to autonomy, independence and identity construction. One can find oneself locked in a state of trouble, confusion, becoming a stranger to oneself, with an impression of distance waxing between the young patient and others. The parents find themselves weakening and must make calls on their supporters. The siblings see their daily life becoming more unsettled and find themselves confronted by parents less available and reassuring. The impact on the brothers and sisters vary depending on their age and the capacity of the parent's adaptation. From the onset, adolescents struck by cancer necessitate an adaptation of the medical staff. The medical information, the treatment and the aid-care contracts must be approved by the adolescent himself but the parent's involvement remains essential. It is necessary to create an alliance of three. Conflicts and rivalry occur frequently between parents and the medical staff. One must study the possibility of creating a place adapted to

  2. Verbal communication of families with cancer patients at end of life: A questionnaire survey with bereaved family members.

    Science.gov (United States)

    Nakazato, Kazuhiro; Shiozaki, Mariko; Hirai, Kei; Morita, Tatsuya; Tatara, Ryuhei; Ichihara, Kaori; Sato, Shinichi; Simizu, Megumi; Tsuneto, Satoru; Shima, Yasuo; Miyasita, Mitsunori

    2018-01-01

    To clarify the verbal communication of feelings between families and patients in Japanese palliative care units from the perspective of bereaved family members by examining (1) proportions of families' and patients' verbalization of six feelings (gratitude, love, seeking forgiveness, giving forgiveness, wishes after death, and continuing bonds), (2) recognition of receiving these feelings through verbalization from the family's perspective, and (3) the specific attitudes of family members that influence their verbalizations. In 2010, a cross-sectional survey was conducted with 968 bereaved families of cancer patients in palliative care units across Japan. Five hundred thirty-seven responses were analyzed. (1) "Gratitude" was verbalized most often (families: 47%; patients: 61%), and "expressing forgiveness" least often (families: 16%; patients: 11%). (2) Even if the words were not used, 81.2% to 88.2% of families answered that they had received the patient's feelings, and 71.8% to 85.4% of families felt the patient had received their feelings. (3) Multiple logistic regression analyses indicated that the strongest attitudes determining verbalizing were "not wanting to say farewell without conveying feelings," "a daily basis of expressing," and "heart-to-heart communication" (ishin-denshin). For both families and patients, verbalizing feelings was difficult. Our results showed that families' and patients' verbalizing and receiving of feelings must be aligned to understand their communication at the end of life in Japan. Future research is needed to verify how attitude helps promote or inhibit verbalization. Copyright © 2017 John Wiley & Sons, Ltd.

  3. Aldo-keto Reductase Family 1 B10 as a Novel Target for Breast Cancer Treatment

    Science.gov (United States)

    2010-08-01

    aldo-keto reductase family protein AKR1B10 is highly correlated with smokers ’ non -small cell lung carcinomas. Clin Cancer Res 11: 1776-1785. Gallego...reductase family 1 B10 protein detoxifies dietary and lipid -derived alpha, beta-unsaturated carbonyls at physiological levels . Biochem Biophys Res...AKR1B10 expression in breast cancer, define the role of AKR1B10 in lipid metabolism, proliferation, and tumorigenicity of breast cancer cells using

  4. Family caregivers' burden: A hospital based study in 2010 among cancer patients from Delhi

    OpenAIRE

    Lukhmana, S; S K Bhasin; Chhabra, P; Bhatia, M.S.

    2015-01-01

    Background: A large number of patients with chronic diseases like, cancer are cared for in homes by the family members in India. The vital role that these family members play as “caregivers” is well recognized, however, the burden on them is poorly understood. Aims: To assess burden and to determine the predictors of burden on family caregivers of cancer patients. Setting And Design: A cross-sectional, hospital based study conducted in National Capital Territory of Delhi. Materials And Method...

  5. Does risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair gene depend on family history of endometrial cancer or colorectal cancer?

    Science.gov (United States)

    Bharati, Rajani; Jenkins, Mark A; Lindor, Noralane M; Le Marchand, Loïc; Gallinger, Steven; Haile, Robert W; Newcomb, Polly A; Hopper, John L; Win, Aung Ko

    2014-05-01

    To determine whether risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair (MMR) gene depends on family history of endometrial or colorectal cancer. We retrospectively followed a cohort of 79,166 women who were recruited to the Colon Cancer Family Registry, after exclusion of women who were relatives of a carrier of a MMR gene mutation. The Kaplan-Meier failure method was used to estimate the cumulative risk of endometrial cancer. Cox regression was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for association between family history of endometrial or colorectal cancer and risk of endometrial cancer. A total of 628 endometrial cancer cases were observed, with mean age at diagnosis of 54.4 (standard deviation: 15.7) years. The cumulative risk of endometrial cancer to age 70 years was estimated to be 0.94% (95% CI 0.83-1.05) for women with no family history of endometrial cancer, and 3.80% (95% CI 2.75-4.98) for women with at least one first- or second-degree relative with endometrial cancer. Compared with women without family history, we found an increased risk of endometrial cancer for women with at least one first- or second-degree relative with endometrial cancer (HR 3.66, 95% CI 2.63-5.08), and for women with one first-degree relative with colorectal cancer diagnosed at age cancer is associated with a family history of endometrial cancer or early-onset colorectal cancer for women without a MMR gene mutation, indicating for potential underlying genetic and environmental factors shared by colorectal and endometrial cancers other than caused by MMR gene mutations. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Correlation between familial cancer history and epidermal growth factor receptor mutations in Taiwanese never smokers with non-small cell lung cancer: a case-control study.

    Science.gov (United States)

    Cheng, Po-Chung; Cheng, Yun-Chung

    2015-03-01

    Lung cancer is a leading cause of cancer deaths in the world. Cigarette smoking remains a prominent risk factor, but lung cancer incidence has been increasing in never smokers. Genetic abnormalities including epidermal growth factor receptor (EGFR) mutations predominate in never smoking lung cancer patients. Furthermore, familial aggregations of patients with these mutations reflect heritable susceptibility to lung cancer. The correlation between familial cancer history and EGFR mutations in never smokers with lung cancer requires investigation. This was a retrospective case-control study that evaluated the prevalence of EGFR mutations in lung cancer patients with familial cancer history. Never smokers with lung cancer treated at a hospital in Taiwan between April 2012 and May 2014 were evaluated. Inclusion criteria were never smokers with non-small cell lung cancer (NSCLC). Exclusion criteria involved patients without records of familial cancer history or tumor genotype. This study included 246 never smokers with lung cancer. The study population mainly involved never smoking women with a mean age of 60 years, and the predominant tumor histology was adenocarcinoma. Lung cancer patients with familial cancer history had an increased prevalence of EGFR mutations compared to patients without family history [odds ratio (OR): 5.9; 95% confidence interval (CI): 3.3-10.6; Pnever smoking lung cancer patients with familial cancer history. Moreover, a sizable proportion of never smoking cancer patients harbored these mutations. These observations have implications for the treatment of lung cancer in never smokers.

  7. Emotional, Biological, and Cognitive Impact of a Brief Expressive Writing Intervention for African American Women at Familial Breast Cancer Risk

    National Research Council Canada - National Science Library

    Valdimarsdottir, Heiddie; Bovbjerg, Dana

    2005-01-01

    ...) than women without familial breast cancer risk. To date, little research has been done on women of African descent with family histories of breast cancer, despite the fact that they may be at particularly high risk for chronic distress due...

  8. A family's difficulties in caring for a cancer patient at the end of life at home in Japan

    National Research Council Canada - National Science Library

    Ishii, Yoko; Miyashita, Mitsunori; Sato, Kazuki; Ozawa, Taketoshi

    2012-01-01

    ...% of the total deaths of cancer patients. The aim of this study was to investigate circumstances, difficulties, and correlated factors for family caregivers who provided care at home for a family member with terminal cancer...

  9. Association of family risk and lifestyle/comorbidities in ovarian cancer patients

    NARCIS (Netherlands)

    Teixeira, Natalia; Azevedo Koike Folgueira, Maria Aparecida; Maistro, Simone; Encinas, Giselly; de Bock, Geertruida Hendrika; Estevez Diz, Maria Del Pilar

    2015-01-01

    Objectives: to analyze factors that might indicate familial predisposition for ovarian cancer in patients diagnosed with this disease. Methods: in a prospective single center cohort study at the Institute of Cancer of the State of Sao Paulo (ICESP), 51 women diagnosed with ovarian cancer were

  10. Familial clustering of cancer in two tertiary care hospitals in Nairobi ...

    African Journals Online (AJOL)

    Objective: To describe the occurrence of cancers in families of individuals diagnosed cancer. Design: Cross-sectional descriptive study. Setting: Outpatient cancer clinics at Kenyatta National Hospital (KNH) and Radiotherapy Clinic at Nairobi Hospital. Subjects: Patients with a tissue histological or cytological diagnosis of ...

  11. The importance of family history in young patients with endometrial cancer

    NARCIS (Netherlands)

    Berends, MJW; Kleibeuker, JH; de Vries, EGE; Mourits, MJE; Hollema, H; Pras, E; van der Zee, AGJ

    Endometrial cancer occurs primarily in postmenopausal women older than 60 years of age. Especially in young patients with endometrial cancer, a positive family history with respect to cancer and/or development of synchronous or metachronous tumors can be indicative of hereditary factors. One generic

  12. Surveillance for hereditary nonpolyposis colorectal cancer - A long-term study on 114 families

    NARCIS (Netherlands)

    Cappel, WHDTN; Nagengast, FM; Griffioen, G; Menko, FH; Taal, BG; Kleibeuker, JH; Vasen, HF

    2002-01-01

    PURPOSE: Hereditary nonpolyposis colorectal cancer is caused by germline mutations in DNA mismatch repair genes. Mutation carriers have a 60 to 85 percent risk of developing colorectal cancer. In the Netherlands hereditary nonpolyposis colorectal cancer families are monitored in an intensive

  13. Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC.

    NARCIS (Netherlands)

    Hoogerbrugge-van der Linden, N.; Willems, R.J.; Krieken, J.H.J.M. van; Kiemeney, L.A.L.M.; Weijmans, M.; Nagengast, F.M.; Arts, N.J.M.; Brunner, H.G.; Ligtenberg, M.J.L.

    2003-01-01

    In families at risk for hereditary non-polyposis colorectal cancer (HNPCC) that do not fulfill all clinical criteria for HNPCC, additional evidence is sought by testing cancer specimens for microsatellite instability (MSI). We investigated whether the location of a colorectal cancer (CRC) predicts

  14. [Colon cancer risk in persons at familial or hereditary risk aged < 55 years].

    Science.gov (United States)

    Waldmann, A; Raspe, H; Katalinic, A

    2009-10-01

    The question whether persons at familial or hereditary risk differ in terms of absolute, relative, or cumulative risk for colorectal cancer or not is of importance for the estimation of the potential of early detection of colorectal cancer in persons with familial or hereditary risks. Based on the results of a systematic literature search on absolute, relative, and cumulative risks of familial and hereditary disposition for colorectal cancer as well as actual German tumour incidence data, projections were conducted. The absolute risk for colorectal cancer in familial risk persons identified by means of a questionnaire is increased by a factor of 2 - 4 depending on the age at questioning, the age of the family member at cancer diagnosis and number of family members with colorectal cancer. Their absolute colorectal cancer risk equals that of persons without this risk who are 10 to 15 years older. Persons with hereditary risk show an increase in risk by a factor of 8 - 80. Persons aged 40 to 45 years with a familial risk constellation show a risk for colorectal cancer that equals the risk of 55- to 59-year-old persons from the general population. Therefore, the legal right for screening colonoscopy should be extended to the persons at risk aged 40 to 45 years. Persons suspected for hereditary risk should have a genetic counselling and, in case of germ mutation, a colonoscopic surveillance according to the actual guidelines. Copyright Georg Thieme Verlag KG Stuttgart . New York.

  15. Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma.

    Science.gov (United States)

    Abdel-Rahman, M H; Pilarski, R; Ezzat, S; Sexton, J; Davidorf, F H

    2010-09-01

    Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. The extent of the contribution of familial/hereditary predisposition to the development of uveal melanoma is largely unknown. Thus we sought to ascertain the frequency of cancers in patients with UM and their family members to identify the prevalence of hereditary/familial predisposition to cancer in these patients. An unselected series of 121 patients with UM seen in a university-based tertiary referral program were consented to the study. Cancer histories (site and age of diagnosis) were obtained for all first- and second-degree relatives. Patients/families were classified as being potentially at high risk for hereditary predisposition if they met any of the following criteria: (1) Diagnosis of UM at age 30 or under, (2) Two or more cases of UM in the family, (3) UM plus at least one other primary cancer in the same patient (excluding non-melanoma skin and cervix cancers due to their strong environmental etiological link). (4) Family history meeting high risk criteria for a known hereditary cancer predisposition syndrome as defined by Hampel et al. (J Med Genet 41(2): 81-91, 2004). One patient had a family history of UM (0.8%). Ten patients (8.3%) had a personal and/or family history consistent with predisposition to a known hereditary cancer syndrome including six with possible hereditary breast, two with hereditary colon and two with hereditary melanomas. Twenty three patients (19%) had a personal history of a second cancer after exclusion of non-melanoma skin and cervical cancers. The frequency of cutaneous melanomas was significantly higher in UM patients than the general population (RR: 2.97, 95% CI: 1.00-6.94). Patients with a family history suggestive of a high risk predisposition to a known cancer syndrome had a significantly higher risk for having a second cancer than the remaining UM patients (P = 0.02). Our results indicate that the frequency of UM patients with high risk

  16. How Does Culture Shape Roles and Relationships in Taiwanese Family Caregiving for an Adolescent With Cancer?

    Science.gov (United States)

    Yeh, Li-Chyun; Kellet, Ursula; Henderson, Saras; Chen, Kang-Hua

    2015-01-01

    Chinese culture plays a significant part in how Taiwanese families view life events. Caregivers envisage themselves as guardians of their children in all facets of family life, including wellness and strive to maintain harmonious relationships within the family. However, it remains unclear what impact caring for an adolescent with cancer has on family roles and relationships in Taiwanese families, nor are the processes for managing change in family roles and relationships associated with caregiving well understood. This study explores the impact of caregiving for an adolescent with cancer on the roles and relationships within Taiwanese families. Seven families were recruited from a medical hospital in Taiwan. Data were collected through qualitative interviews and analyzed following Strauss and Corbin's grounded theory. The core category, underpinned by Chinese culture, proved to be experiencing the broken chain of family life. This was the central issue brought about by 4 consequences for the broken chain of family life. The expression "the broken chain of family life" encapsulates how important Chinese cultural values are in defining caregiver task performance. The findings have implications for Taiwanese families in perceiving, adjusting to, and fulfilling the altered roles and relationships associated with caring for an adolescent with cancer at home. The delivery of exceptional care and services depends on gaining insight into how caregiving influences family roles and relationships. How families failed to manage the process of caregiving provides valuable insight for informing and providing recommendations for services and support.

  17. The molecular genetics of hereditary and sporadic ovarian cancer: implications for the future.

    Science.gov (United States)

    Al Bakir, Maise; Gabra, Hani

    2014-12-01

    Epithelial ovarian cancer (EOC) is a heterogeneous condition with poor survival outcomes. The genetics of hereditary and sporadic ovarian cancers will be covered and its implications to management and future research are discussed. Key recent published literature. Both genetic and environmental factors play a role in the development of EOC. Most EOCs develop sporadically and are divided into low-grade/genetically stable type I tumours and high-grade/genetically unstable type II tumours. The commonest hereditary syndromes are hereditary breast ovarian cancer syndrome (HBOC-BRCA mutations) and Lynch syndrome (DNA mismatch repair mutations). The different histological types of EOC may not solely originate from the ovary but from the fallopian tube and endometriosis deposits; there is increasing evidence to support this. Our understanding of the genetics and frequencies of mutations in ovarian cancer is expanding. The proportion of heritable EOC is larger than previously estimated and not all patients have a clear family history for this. Mutations in genes involving the downstream BRCA signalling pathway have recently been implicated in HBOC. TP53 mutations are the single most commonly identified mutations in aggressive sporadic high-grade serous carcinomas, affecting essentially 100% of such tumours. Furthermore, there is increasing recognition that the different histological sub-types need to be treated as separate entities. Given how heterogeneous 'ovarian' cancer is, trials into new drugs should report responses for the different histo-/geno-types rather than simply using staging. Although the effect of new drugs such as poly(ADP-ribose) polymerase inhibitors are being investigated in ovarian cancer, there is still a need to develop targeted therapies-especially to tackle mutations in PI3 K pathway, RAS pathway and TP53. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  18. Familial gastric cancer: detection of a hereditary cause helps to understand its etiology

    Directory of Open Access Journals (Sweden)

    Vogelaar Ingrid P

    2012-12-01

    Full Text Available Abstract Worldwide, gastric cancer is one of the most common forms of cancer, with a high morbidity and mortality. Several environmental factors predispose to the development of gastric cancer, such as Helicobacter pylori infection, diet and smoking. Familial clustering of gastric cancer is seen in 10% of cases, and approximately 3% of gastric cancer cases arise in the setting of hereditary diffuse gastric cancer (HDGC. In families with HDGC, gastric cancer presents at relatively young age. Germline mutations in the CDH1 gene are the major cause of HDGC and are identified in approximately 25-50% of families which fulfill strict criteria. Prophylactic gastrectomy is the only option to prevent gastric cancer in individuals with a CDH1 mutation. However, in the majority of families with multiple cases of gastric cancer no germline genetic abnormality can be identified and therefore preventive measures are not available, except for general lifestyle advice. Future research should focus on identifying new genetic predisposing factors for all types of familial gastric cancer.

  19. The KinFact intervention - a randomized controlled trial to increase family communication about cancer history.

    Science.gov (United States)

    Bodurtha, Joann N; McClish, Donna; Gyure, Maria; Corona, Rosalie; Krist, Alexander H; Rodríguez, Vivian M; Maibauer, Alisa M; Borzelleca, Joseph; Bowen, Deborah J; Quillin, John M

    2014-10-01

    Knowing family history is important for understanding cancer risk, yet communication within families is suboptimal. Providing strategies to enhance communication may be useful. Four hundred ninety women were recruited from urban, safety-net, hospital-based primary care women's health clinics. Participants were randomized to receive the KinFact intervention or the control handout on lowering risks for breast/colon cancer and screening recommendations. Cancer family history was reviewed with all participants. The 20-minute KinFact intervention, based in communication and behavior theory, included reviewing individualized breast/colon cancer risks and an interactive presentation about cancer and communication. Study outcomes included whether participants reported collecting family history, shared cancer risk information with relatives, and the frequency of communication with relatives. Data were collected at baseline, 1, 6, and 14 months. Overall, intervention participants were significantly more likely to gather family cancer information at follow-up (odds ratio [OR]: 2.73; 95% confidence interval [CI]: 2.01, 3.71) and to share familial cancer information with relatives (OR: 1.85; 95% CI: 1.37, 2.48). Communication frequency (1=not at all; 4=a lot) was significantly increased at follow-up (1.67 vs. 1.54). Differences were not modified by age, race, education, or family history. However, effects were modified by pregnancy status and genetic literacy. Intervention effects for information gathering and frequency were observed for nonpregnant women but not for pregnant women. Additionally, intervention effects were observed for information gathering in women with high genetic literacy, but not in women with low genetic literacy. The KinFact intervention successfully promoted family communication about cancer risk. Educating women to enhance their communication skills surrounding family history may allow them to partner more effectively with their families and ultimately

  20. Contribution of extended family history in assessment of risk for breast and colon cancer.

    Science.gov (United States)

    Solomon, Benjamin L; Whitman, Todd; Wood, Marie E

    2016-09-01

    Family history is important for identifying candidates for high risk cancer screening and referral for genetic counseling. We sought to determine the percentage of individuals who would be eligible for high risk cancer screening or genetic referral and testing if family history includes an extended (vs limited) family history. Family histories were obtained from 626 women at UVMMC associated mammography centers from 2001 to 2002. ACS guidelines were used to determine eligibility for high risk breast or colon cancer screening. Eligibility for referral for genetic counseling for hereditary breast and colon cancer was determined using the Referral Screening Tool and Amsterdam II screening criteria, respectively. All family histories were assessed for eligibility by a limited history (first degree relatives only) and extended history (first and second degree relatives). Four hundred ninety-nine histories were eligible for review. 18/282 (3.6 %) and 62/123 (12 %) individuals met criteria for high risk breast and colon cancer screening, respectively. 13/18 (72 %) in the high risk breast cancer screening group and 12/62 (19 %) in the high risk colon cancer screening group met criteria based upon an extended family history. 9/282 (1.8 %) and 31/123 (6.2 %) individuals met criteria for genetic counseling referral and testing for breast and colon cancer, respectively. 2/9 (22 %) of individuals in the genetic breast cancer screening group and 21/31 (68 %) individuals in the genetic colon cancer screening group met criteria based upon extended family history. This is one of the first studies to suggest that first degree family history alone is not adequate for identification of candidates for high risk screening and referral for genetic counseling for hereditary breast and colon cancer syndromes. A larger population is needed to further validate this data.

  1. The Effect of Telephone Counseling and Education on Breast Cancer Screening in Family Caregivers of Breast Cancer Patients.

    Science.gov (United States)

    Nasiriani, Khadijeh; Motevasselian, Monireh; Farnia, Farahnaz; Shiryazdi, Seyed Mostafa; Khodayarian, Mahsa

    2017-10-01

    Breast cancer is the most common form of malignancy among females. Family history is a key risk factor for breast cancer. Breast cancer screening practices are vital in patients with family history of breast cancer. Telephone counseling and education may be appropriate for improved breast cancer screening. This study was done to determine family caregiver patients' knowledge of risk factors for breast cancer and practice of breast cancer screening and also to assess the effect of telephone counseling and education on mammography screening. This study was a community-based trial. The participants of the study were 90 caregivers who were randomly divided into an experimental group, telephone counseling and education, and a control group. The intervention group received counseling and education phone calls. A three-section questionnaire was responded and filled out through telephone interviews with the participants. The collected data were analyzed with SPSS18, using descriptive and inferential statistics. The results showed that 88.9% of the participants did not know when to do breast self-exam (BSE). Mammography was performed by the participants before and after the telephone counseling in intervention group (Ppatients was low. Telephone counseling and educating may provide a suitable technique for earlier detection of breast cancer in family caregivers of breast cancer patients and it can influence the decision making regarding mammography screening among 40-year-old or older women. Trial Registration Number: 2017052316870N3.

  2. Family Communication, Risk Perception and Cancer Knowledge of Young Adults from BRCA1/2 Families: a Systematic Review.

    Science.gov (United States)

    Young, Alison L; Butow, Phyllis N; Vetsch, Janine; Quinn, Veronica F; Patenaude, Andrea F; Tucker, Katherine M; Wakefield, Claire E

    2017-12-01

    Understanding challenges in familial communication of cancer risk has informed genetic service delivery. Parent-child interactions have received considerable attention, but few studies focus on young adulthood experiences within BRCA1/2 families. Young adults are approaching, or at a life stage where awareness of hereditary cancer risk is vital for informed choice of risk management options. This review assesses family communication, risk perception and cancer knowledge held by 18-40 year old individuals who have a parent with a BRCA1/2 gene mutation or carry the gene mutation themselves. Thirteen papers met the inclusion criteria. One utilized a 'mixed methods' methodology and the remaining used a qualitative approach. Findings were synthesized into themes and reported narratively. In general, parents are communicating openly about genetic risk with young adult offspring, but there is evidence that some young adults are withholding information from their parents about their own test results. Risk perception is influenced by a family history of cancer, childbearing plans and health providers' advice. Misconceptions about genetic risk appear to be common and gaps in hereditary cancer knowledge are evident. It is unclear whether incorrect knowledge was passed from parents to offspring. Health providers need to provide developmentally appropriate services for emerging adults (18-25 years old), with particular support in navigating through risk management options.

  3. Early detections of cancer in family practice – a case of colorectal cancer

    Directory of Open Access Journals (Sweden)

    Ksenija Tušek-Bunc

    2007-12-01

    Full Text Available Background: Malignant diseases present a serious public health problem in the world as well in Slovenia. In the last years, colon and rectum are (with the exception of skin the most common cancer sites in the developed world, including Slovenia. Colorectal carcinoma is the most frequent cancer of the gastrointestinal tract occurring in Slovenia and it is second leading cause of mortality due to malignancies. The incidence of colorectal carcinoma is rising in the past few years. In spite of better five-year survival rates in patients with the disease, there are many patients diagnosed in advanced stages with worse prognosis.Conclusions: Early detection of colorectal carcinoma in Slovenia has not been introduced in a systematic way yet. There is no doubt that screening is feasible in family practice. Family doctors have a unique role in preventing, early detection and screening of colorectal carcinoma. Guidelines for management of predisposing factors, for early detection of the disease and for healthier life style are an important tool in the hands of family doctors with the aim to reduce morbidity and mortality due to colorectal carcinoma.

  4. Effects of a family intervention on the quality of life of women with recurrent breast cancer and their family caregivers.

    Science.gov (United States)

    Northouse, Laurel; Kershaw, Trace; Mood, Darlene; Schafenacker, Ann

    2005-06-01

    The purpose of this study was to determine if patients with advanced breast cancer and their family caregivers, who participated in a family based intervention, report better quality of life and other psychosocial outcomes than dyads who received standard care alone. Using a randomized clinical trial, 134 patients and their family caregivers were assigned to usual care (control) or to usual care plus the family intervention (experimental condition). Dyads were assessed at baseline, three- and six-months later. The intervention consisted of five sessions and addressed family involvement, optimistic attitude, coping effectiveness, uncertainty reduction, and symptom management. Patients in the family intervention reported significantly less hopelessness and less negative appraisal of illness than controls; their family caregivers reported significantly less negative appraisal of caregiving. Intervention effects were evident at three-months, but were not sustained at six-months. No difference was found in the quality of life of dyads in experimental or control conditions. Although the family intervention had positive effects initially, these effects were not sustained over time. Future studies need to consider program dose and duration of effect, outcome measures that are more sensitive to change, and realistic end-points for patients with advanced cancer.

  5. Measuring family functioning in families with parental cancer: Reliability and validity of the German adaptation of the Family Assessment Device (FAD).

    Science.gov (United States)

    Beierlein, Volker; Bultmann, Johanna Christine; Möller, Birgit; von Klitzing, Kai; Flechtner, Hans-Henning; Resch, Franz; Herzog, Wolfgang; Brähler, Elmar; Führer, Daniel; Romer, Georg; Koch, Uwe; Bergelt, Corinna

    2017-02-01

    The concept of family functioning is gaining importance in psycho-oncology research and health care services. The Family Assessment Device (FAD) is a well-established measure of family functioning. Psychometric properties inherent in the German 51-item adaptation of the FAD are examined in different samples of families with parental cancer. Acceptance, reliability, and validity of FAD scales are analysed in samples from different study settings (N=1701 cancer patients, N=261 partners, N=158 dependent adolescent children 11 to 18years old). Missing items in the FAD scales (acceptance) are rare for adults (adults and older adolescents (15 to 18years), all FAD scales except for the Roles scale are significantly reliable (0.75≤Cronbach's α≤0.88). The scales correlate highly (0.46≤Pearson's r≤0.59) with the criterion satisfaction with family life (convergent validity), and have smaller correlations (0.16≤r≤0.49) with measures of emotional distress and subjective well-being (divergent validity). In most FAD scales, adults seeking family counselling report worse family functioning (0.24≤Cohen's d≤0.59) than adults in other samples with parental cancer (discriminative validity). Overall, the German 51-item adaptation of the FAD reveals good acceptance, reliability, and validity for cancer patients and their relatives. Particularly the scale General Functioning shows excellent psychometric properties. The FAD is suitable in the assessment of families with parental cancer for adults and adolescents older than 11years. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Family History of Breast Cancer as a Determinant of the Risk of Developing Endometrial and Ovarian Cancers: A Nationwide Cohort Study

    National Research Council Canada - National Science Library

    Kazerouni, N. N

    2002-01-01

    Statement of the problem: Although endometrial and ovarian cancers share some of the same reproductive, hormonal, and genetic risk factors with breast cancer, it is not well established if a family history of breast cancer...

  7. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease

    NARCIS (Netherlands)

    Collaborative Group on Hormona, l Factors; van den Brandt, P.A.; Goldbohm, R.A.

    2001-01-01

    Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Collaborative Group on Hormonal Factors in Breast Cancer. BACKGROUND: Women with a family history of breast cancer are

  8. The influence of family management style on psychosocial problems of childhood cancer survivors in Korea.

    Science.gov (United States)

    Kim, Dong Hee; Im, Yeo Jin

    2015-04-01

    To examine the psychosocial problems of childhood cancer survivors in Korea and investigate whether such problems are influenced by family management style. Family members of 158 childhood cancer survivors answered a questionnaire on demographic and illness characteristics, described psychosocial problems in their children using the Pediatric Symptom Checklist (PSC), and completed the Family Management Measure (FaMM). Perceived economic status and all six subscales of the FaMM were significantly correlated with children's psychosocial problems. In a multiple regression model, the Family Life Difficulty and Parental Mutuality scales of the FaMM were each independent predictors of psychosocial problems in young cancer survivors. A detailed care plan designed to (1) promote balance between the management of a child's condition and normal family life and (2) encourage parents to share their feelings with one another and provide mutual support should be required to improve psychosocial outcomes for childhood cancer survivors. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. A model for patient-direct screening and referral for familial cancer risk.

    Science.gov (United States)

    Niendorf, Kristin B; Geller, Melissa A; Vogel, Rachel Isaksson; Church, Timothy R; Leininger, Anna; Bakke, Angela; Madoff, Robert D

    2016-10-01

    Patients at increased familial risk of cancer are sub-optimally identified and referred for genetic counseling. We describe a systematic model for information collection, screening and referral for hereditary cancer risk. Individuals from three different clinical and research populations were screened for hereditary cancer risk using a two-tier process: a 7-item screener followed by review of family history by a genetic counselor and application of published criteria. A total of 869 subjects participated in the study; 769 in this high risk population had increased familial cancer risk based on the screening questionnaire. Of these eligible participants, 500 (65.0 %) provided family histories and 332 (66.4 %) of these were found to be at high risk of a hereditary cancer syndrome, 102 (20.4 %) at moderate familial cancer risk, and 66 (13.2 %) at average risk. Three months following receipt of the risk result letter, nearly all respondents found the process at least somewhat helpful (98.4 %). All participants identified as high-risk were mailed a letter recommending genetic counseling and were provided appointment tools. After 1 year, only 13 (7.3 %) of 179 high risk respondents reported pursuit of recommended genetic counseling. Participants were willing to provide family history information for the purposes of risk assessment; however, few patients pursued recommended genetic services. This suggests that cancer family history registries are feasible and viable but that further research is needed to increase the uptake of genetic counseling.

  10. Early diagnosis behavior in Turkish women with and without a family history of cervical cancer.

    Science.gov (United States)

    Gunaydin, Cansu; Gencturk, Nuran

    2015-01-01

    This study was planned as comparative and descriptive in order to measure and evaluate the knowledge and attitudes regarding early diagnosis of women with and without a family history of cervical cancer. The study sample consisted of the relatives of female patients (N=253) who were admitted to Istanbul University of Medicine. Women with a family history of cervical cancer formed the case group, while those without family history of cervical cancer constituted the control group. Two distinct data collection tools, a questionnaire and the Miller Behavioral Style Scale (MBSS), were used in order to obtain data for evaluation with SPSS for Windows 20.0 statistics package program. It was found that 61.0% of the case group with family history of cervical cancer and 19.0% of the control group without family history of cervical cancer were using early diagnostic methods. Thus the presence of an individual with cervical cancer in the family affected the attitudes towards early diagnosis. It was further found that the level of knowledge on cervical cancer and PAP smear test was higher in the case group, which was more sensitive with regard to being informed about cervical cancer as compared to general society. However, the average MBSS scores were not significantly different compared to the control group. It was noted that, women participating this study knowledgeable, but this did not necessarily transform into better behavior.

  11. Interactions of familial and hormonal risk factors for large bowel cancer in women.

    Science.gov (United States)

    Newcomb, P A; Taylor, J O; Trentham-Dietz, A

    1999-08-01

    Family history of colorectal cancer has been consistently associated with an increased personal risk of this disease. Since evidence suggests that hormones are related to colon cancer risk in women, the effect of family history on large bowel incidence may be modified according to endogenous and exogenous hormone levels. We analysed data from a population-based case-control study of female colorectal cancer to evaluate family history and cancer risk. Cases (n = 702) were female residents of Wisconsin with a new diagnosis of colorectal cancer, identified through a statewide tumour registry. Controls (n = 2274) were randomly selected from lists of licensed drivers and from rosters of Medicare beneficiaries. All relative risks (RR) were adjusted for age, body mass index, smoking and alcohol history, education, and use of hormone replacement therapy. Compared with women who reported no history of cancer in a first degree relative, women with a family history had an RR of 2.07 (95% confidence interval [CI]: 1.60-2.68). Regardless of which parent was affected, risks were increased about twofold, while sibling history was associated with about a 50% increase in risk. Risk was greater if more than one family member was affected (RR 3.65, 95% CI: 1.81-7.37). The association between family history and risk was stronger for colon cancer than for rectal cancer. There were no indications that exogenous hormonal factors, notably hormone replacement use, modified these risks. There was a suggestion that high parity attenuated the risks associated with family history (P = 0.07). These results confirm that family history of colorectal cancer is associated with a doubling of risk for large bowel cancer in women; some histories were associated with greater risk. This relation was not substantially different among subgroups of women with varying exogenous and endogenous hormone exposures.

  12. Psychosocial Adjustment in School-age Girls With a Family History of Breast Cancer

    Science.gov (United States)

    Bradbury, Angela R.; Patrick-Miller, Linda; Schwartz, Lisa; Egleston, Brian; Sands, Colleen Burke; Chung, Wendy K.; Glendon, Gord; McDonald, Jasmine A.; Moore, Cynthia; Rauch, Paula; Tuchman, Lisa; Andrulis, Irene L.; Buys, Saundra S.; Frost, Caren J.; Keegan, Theresa H.M.; Knight, Julia A.; Terry, Mary Beth; John, Esther M.; Daly, Mary B.

    2016-01-01

    OBJECTIVE Understanding how young girls respond to growing up with breast cancer family histories is critical given expansion of genetic testing and breast cancer messaging. We examined the impact of breast cancer family history on psychosocial adjustment and health behaviors among >800 girls in the multicenter LEGACY Girls Study. METHODS Girls aged 6 to 13 years with a family history of breast cancer or familial BRCA1/2 mutation (BCFH+), peers without a family history (BCFH−), and their biological mothers completed assessments of psychosocial adjustment (maternal report for 6- to 13-year-olds, self-report for 10- to 13-year-olds), breast cancer–specific distress, perceived risk of breast cancer, and health behaviors (10- to 13-year-olds). RESULTS BCFH+ girls had better general psychosocial adjustment than BCFH− peers by maternal report. Psychosocial adjustment and health behaviors did not differ significantly by self-report among 10- to 13-year-old girls. BCFH+ girls reported higher breast cancer–specific distress (P = .001) and were more likely to report themselves at increased breast cancer risk than BCFH− peers (38.4% vs 13.7%, P communication. Higher daughter breast cancer–specific distress was associated with higher maternal breast cancer-specific distress. CONCLUSIONS Although growing up in a family at risk for breast cancer does not negatively affect general psychosocial adjustment among preadolescent girls, those from breast cancer risk families experience greater breast cancer–specific distress. Interventions to address daughter and mother breast cancer concerns and responses to genetic or familial risk might improve psychosocial outcomes of teen daughters. PMID:26482668

  13. How well does family history predict who will get colorectal cancer? Implications for cancer screening and counseling.

    Science.gov (United States)

    Taylor, David P; Stoddard, Gregory J; Burt, Randall W; Williams, Marc S; Mitchell, Joyce A; Haug, Peter J; Cannon-Albright, Lisa A

    2011-05-01

    Using a large, retrospective cohort from the Utah Population Database, we assess how well family history predicts who will acquire colorectal cancer during a 20-year period. Individuals were selected between ages 35 and 80 with no prior record of colorectal cancer diagnosis, as of the year 1985. Numbers of colorectal cancer-affected relatives and diagnosis ages were collected. Familial relative risk and absolute risk estimates were calculated. Colorectal cancer diagnoses in the cohort were counted between years 1986 and 2005. Cox regression and Harrell's C were used to measure the discriminatory power of resulting models. A total of 431,153 individuals were included with 5,334 colorectal cancer diagnoses. Familial relative risk ranged from 0.83 to 12.39 and 20-year absolute risk from 0.002 to 0.21. With familial relative risk as the only predictor, Harrell's C = 0.53 and with age only, Harrell's C = 0.66. Familial relative risk combined with age produced a Harrell's C = 0.67. Family history by itself is not a strong predictor of exactly who will acquire colorectal cancer within 20 years. However, stratification of risk using absolute risk probabilities may be more helpful in focusing screening on individuals who are more likely to develop the disease.

  14. Prediagnostic alcohol consumption and colorectal cancer survival: The Colon Cancer Family Registry.

    Science.gov (United States)

    Phipps, Amanda I; Robinson, Jamaica R; Campbell, Peter T; Win, Aung Ko; Figueiredo, Jane C; Lindor, Noralane M; Newcomb, Polly A

    2017-05-15

    Although previous studies have noted an increased risk of colorectal cancer (CRC) among moderate to heavy alcohol consumers in comparison with nondrinkers, the relation between alcohol consumption and CRC survival remains unclear. Cases of incident invasive CRC diagnosed between 1997 and 2007 were identified via population-based cancer registries at 4 study sites in the Colon Cancer Family Registry. Study participants completed a risk-factor questionnaire on prediagnostic behaviors, including wine, beer, and liquor consumption, at the baseline. Prospective follow-up for survival was conducted for 4966 CRC cases. Cox regression was used to compare nondrinkers with individuals who consumed, on average, 1 or more servings of alcohol per day in the years preceding their CRC diagnosis with respect to overall and disease-specific survival. Separate analyses by beverage type, stratified by patient and tumor attributes, were also performed. All models were adjusted for the age at diagnosis, sex, study site, year of diagnosis, smoking history, body mass index, and education. Prediagnostic beer and liquor consumption was not associated with CRC survival; however, higher levels of wine consumption were modestly associated with a better prognosis overall (CRC-specific hazard ratio [HR], 0.70, 95% confidence interval [CI], 0.48-1.03; overall HR, 0.70; 95% CI, 0.53-0.94). Similar patterns were noted in stratified analyses. These findings suggest that prediagnostic wine consumption is modestly associated with more favorable survival after CRC. Cancer 2017;123:1035-43. © 2016 American Cancer Society. © 2016 American Cancer Society.

  15. A Study Of The Effects Of Illness Experienced By Families Of Oral And Oropharyngeal Cancer Patients

    Directory of Open Access Journals (Sweden)

    Bhagyalaxmi A

    2002-01-01

    Full Text Available Research question : What are the various areas and burden a family experiences due to presence of oral and oropharyngeal cancer patient. Objectives: 1. To identify the family burden like financial burden, disruption of routine activities and family leisure etc. 2. To study the severity of family burden experienced by the families of oral and oropharyngeal cancer patients. Study design: Case- control. Setting: Gujarat Cancer and Research Institute (G.C.R.I, Ahmedabad. Participants: 100 cases belonging to the diagnostic categories no. 140-46 of ICD â€"9 and 100 controls belonging to the diagnostic categories other than no. 140-46 of ICD-9 Statistical analysis: Proportions, Chi-square test and Z test. Results: Financial burden was observed in 36% of cases and 43% of controls had burden on the family. Out of 43% respondents reporting any burden, 36(83.72% were identified with severe burden.

  16. Women with breast cancer: perception of family functioning and adjustment to illness.

    Science.gov (United States)

    Friedman, L C; Baer, P E; Nelson, D V; Lane, M; Smith, F E; Dworkin, R J

    1988-01-01

    Fifty-seven women with breast cancer completed measures of family adaptability and cohesion, marital adjustment, and psychosocial adjustment to illness. Using a circumplex model of family systems, we examined whether subjects who perceived their families at moderate levels of cohesion and adaptability reported better psychosocial adjustment than subjects from families with extreme levels of cohesion and adaptability. The results indicated that the patients who reported the best adjustment to breast cancer and in their marriages, also reported the highest levels of family cohesion. There was not a significant relationship between adjustment to illness and adaptability. The implications for the treatment of women with breast cancer and for the families of these patients were discussed.

  17. Family Matters: Adjustment to genetic cancer susceptibility testing

    NARCIS (Netherlands)

    I.I.H. van Oostrom (Iris)

    2006-01-01

    textabstractCancer is generally feared because it is associated with death and severe physical suffering. It is one of the most common causes of death in the Netherlands. Breast and colon cancer are the most prevalent types of cancer among women. Frequently occurring types in men are cancer

  18. The Effect of Telephone Counseling and Education on Breast Cancer Screening in Family Caregivers of Breast Cancer Patients

    Directory of Open Access Journals (Sweden)

    Khadijeh Nasiriani

    2017-10-01

    Full Text Available Background: Breast cancer is the most common form of malignancy among females. Family history is a key risk factor for breast cancer. Breast cancer screening practices are vital in patients with family history of breast cancer. Telephone counseling and education may be appropriate for improved breast cancer screening. This study was done to determine family caregiver patients’ knowledge of risk factors for breast cancer and practice of breast cancer screening and also to assess the effect of telephone counseling and education on mammography screening. Methods: This study was a community-based trial. The participants of the study were 90 caregivers who were randomly divided into an experimental group, telephone counseling and education, and a control group. The intervention group received counseling and education phone calls. A three-section questionnaire was responded and filled out through telephone interviews with the participants. The collected data were analyzed with SPSS18, using descriptive and inferential statistics. Results: The results showed that 88.9% of the participants did not know when to do breast self-exam (BSE. Mammography was performed by the participants before and after the telephone counseling in intervention group (P<0.00, which were 13.3% and 77.8% respectively. Moreover, the major cause of failure to participate in mammography was lack of enough knowledge in 73.3% of the participants. Conclusion: This study concluded that knowledge and practice on breast cancer screening in family caregiver of breast cancer patients was low. Telephone counseling and educating may provide a suitable technique for earlier detection of breast cancer in family caregivers of breast cancer patients and it can influence the decision making regarding mammography screening among 40-year-old or older women. Trial Registration Number: 2017052316870N3

  19. The family of a child with cancer - changes within the family system

    National Research Council Canada - National Science Library

    Siemińska, Maria J; Greszta, Elżbieta

    2008-01-01

    .... A semistructured questionnaire was used to interview 116 parents from 58 such families. Changes occurring within the family system from the parents' perspective have been determined and recorded...

  20. Association Between Health Behaviors and Family History of Cancer in Cancer Survivors: Data From the Korean Genome and Epidemiology Study.

    Science.gov (United States)

    Hwang, Minji; Park, Boyoung

    2017-09-01

    We compared health behaviors, including current smoking, alcohol drinking, regular exercise, obesity, and abdominal obesity, among Korean cancer survivors with and without family history of cancer. This study included 5,247 cancer survivors with family history of cancer (1,894 with and 3,353 without), who were recruited from the Health Examinee cohort. Health behaviors were identified using questionnaire. Adjusted ORs (aORs) between health behaviors and family history of cancer were estimated by multivariate logistic regression analysis adjusted for sociodemographic factors. All analyses were conducted separately according to sex. Prevalence of current smoking, alcohol drinking, no regular exercise, obesity, and abdominal obesity was 16.3%, 48.3%, 36.0%, 31.3%, and 42.3% in male cancer survivors and 1.7%, 20.6%, 43.8%, 28.5%, and 72.5% in female, respectively. Health behaviors in male cancer survivors with and without family history of cancer were not significantly different after being adjusted for other covariates (aOR = 1.04, 95% CI = 0.75-1.44 for current smoking; aOR = 0.96, 95% CI = 0.76-1.22 for current drinking; aOR = 0.85, 95% CI = 0.66-1.10 for regular exercise; aOR = 0.96, 95% CI = 0.73-1.25 for obesity; aOR = 0.97, 95% CI = 0.75-1.25 for abdominal obesity). In female cancer survivors, there were no significant differences in health behaviors according to family history of cancer (aOR = 0.76, 95% CI = 0.44-1.32; aOR = 1.11, 95% CI = 0.94-1.31; aOR = 0.99, 95% CI = 0.87-1.14; aOR = 0.99, 95% CI = 0.85-1.16; aOR = 0.93, 95% CI = 0.80-1.10, respectively). We identified no significant differences in health behaviors according to family history of cancer in cancer survivors. More studies should be conducted to identify correlations between family history of cancer and prognosis in cancer survivors.

  1. Genetic variation at 8q24, family history of cancer, and upper gastrointestinal cancers in a Chinese population

    OpenAIRE

    Tarleton, Heather P.; CHANG, Shen-Chih; Park, SungShim Lani; Cai, Lin; Ding, Baoguo; He, Na; Hussain, Shehnaz K.; Jiang, Qingwu; Mu, Li-Na; Rao, Jianyu; Wang, Hua; You, Nai-Chieh Y.; Yu, Shun-Zhang; Zhao, Jin-Kou; Zhang, Zuo-Feng

    2014-01-01

    Genetic variation at 8q24 is associated with prostate, bladder, breast, colorectal, thyroid, lung, ovarian, UADT, liver and stomach cancers. However, a role for variation at 8q24 in familial clustering of upper gastrointestinal cancers has not been studied. In order to explore potential inherited susceptibility, we analyzed epidemiologic data from a population-based case-control study of upper gastrointestinal cancers from Taixing, China. The study population includes 204 liver, 206 stomach, ...

  2. Familial breast cancer: what the radiologist needs to know; Familiaere Brustkrebserkrankung: klinische Grundlagen und Frueherkennung

    Energy Technology Data Exchange (ETDEWEB)

    Kuhl, C.K. [Radiologische Klinik, Universitaetskliniken Bonn (Germany)

    2006-07-15

    About 10% of breast cancers are ''hereditary'', i.e. caused by a pathogenic mutation in one of the ''breast and ovarian cancer susceptibility genes'' (BRCA). The BRCA genes 1 and 2 identified to date follow an autosomal dominant inheritance pattern. A clustering of breast cancer in a family without a documented mutation and without a recognizable inheritance pattern is usually referred to as ''familial cancer''. A distinction between hereditary and familial is difficult in the individual case because not all of the genetic mutations that cause breast cancer susceptibility are known and thus amenable to genetic testing. Women who are suspected of or documented as carrying a breast cancer susceptibility gene face a substantially increased lifetime risk of breast (and ovarian) cancer ranging from 60-80% for breast and up to 40% for ovarian cancer. In addition, the disease develops at a young age (the personal risk starts increasing at age 25; average age of diagnosis is 40). BRCA-associated breast cancers tend to exhibit histologic and histochemical evidence of aggressive biologic behavior (usually grade 3, receptor negative) with very fast growth rates. In particular BRCA1-associated breast cancer may be indistinguishable from fibroadenomas: They appear as well-defined, roundish, hypoechoic masses with smooth borders, without posterior acoustic shadowing on ultrasound, without associated microcalcifications on mammography, and with strong wash-out phenomenon on breast MRI. This article reviews the different options that exist for the prevention of familial or hereditary breast cancer and the specific difficulties that are associated with the radiological diagnosis of these cancers. Lastly, an overview is given of the current evidence regarding the effectiveness of the different imaging modalities for early diagnosis of familial and hereditary breast cancer. (orig.)

  3. Impact of Child’s Cancer on Family Life Case Study: Children with Cancer Newly admitted to the National Cancer Institute (NCI, Cairo University

    Directory of Open Access Journals (Sweden)

    Nevein Nagy

    2017-06-01

    Full Text Available The diagnosis of a family member with any disease certainly affects the family life in general. Hence, this study aims at exploring how the diagnosis of a child with cancer affects family life. Additionally, the study seeks to identify the extent to which the life of family can change when they have a child diagnosed with cancer. The study used the Advanced Statistical Analysis technique through conducting a random sampling field study of (804 individuals, of which (402 were mothers of children diagnosed with cancer (as an case group, and (402 were mothers whose children’s samples gave negative results when tested for cancer (as a control group. Through a Questionnaire Form designed to track the extent to which the lives of families covered by the two study samples (the case group and the control group have changed, the researcher used a number of indicators, which she believes to have an effect on family status, to compare the changes experienced by families in both groups. The 11 indicators used by the study measure the effects of having a child with cancer in each family individually. Results revealed significant differences in the values of indicators between the group having a child with cancer and the group whose children tested negative for cancer before and after diagnosis/examination. A composite indicator consisting of the previous indicators is developed using Factor Analysis, which calculated the said indicator based on four factors. These factors are then multiplied by their corresponding weights and aggregated into the new composite indicator (Family Status Indicator. The indicator was clustered using the K-Mean Cluster Analysis into 3 clusters, i.e. low, medium, and high. Conclusion: The child cancer has an impact on the Family Status indicator, demographics and socioeconomic determinants affect the Family Status indicator like (mother work and Education, Education of the father, Place of Residence, ...etc. after child

  4. Correlates of Family Health History Discussions between College Students and Physicians: Does Family Cancer History Make a Difference?

    Science.gov (United States)

    Smith, Matthew Lee; Sosa, Erica T.; Hochhalter, Angela K.; Covin, Julie; Ory, Marcia G.; McKyer, E. Lisako J.

    2011-01-01

    Effective communication between young adults and their healthcare providers can contribute to early detection of risk for developing cancer and establishment of lifelong habits for engagement in healthcare and health promotion behaviors. Our objectives were to examine factors influencing family health history discussions between college students…

  5. Family history of gastric cancer is associated with the risk of colorectal neoplasia in Korean population.

    Science.gov (United States)

    Jung, Yoon Suk; Kim, Nam Hee; Yang, Hyo-Joon; Park, Soo-Kyung; Park, Jung Ho; Park, Dong Il; Sohn, Chong Il

    2017-10-01

    Family history of cancers at different sites except for colorectum has not been evaluated as a risk factor for colorectal neoplasia (CRN). To investigate CRN risk according to family history of cancers at 12 different sites, including stomach and colorectum. A cross-sectional study was performed on 139,497 asymptomatic Koreans who underwent colonoscopy as part of a health check-up. The mean age of the study population was 41.6 and the prevalence of CRN was 16.3%. Multivariate analyses revealed that family histories of CRC (adjusted odds ratio; confidence interval, 1.26; 1.17-1.35) and gastric cancer (1.07; 1.01-1.13) were independent risk factors for CRN. Notably, the risk of CRN increased even more for participants with family histories of both CRC and gastric cancer (1.38; 1.12-1.70). Family history of CRC was associated with risk of CRN in participants aged both history of gastric cancer was associated with risk of CRN in participants aged history of gastric cancer was an independent risk factor for CRN, especially in those aged histories of gastric cancer and CRC, especially those with family histories of both, may need to begin colonoscopy earlier. Copyright © 2017 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  6. Clinicopathological features of non-familial colorectal cancer with high-frequency microsatellite instability.

    Science.gov (United States)

    Peng, Jin; Xiao-ming, Meng; Jian-qiu, Sheng; Zi-tao, Wu; Lei, Fu; He-juan, An; Ying, Han; Shi-rong, Li

    2010-12-01

    To explore the clinicopathological features of non-familial colorectal cancer with high-frequency microsatellite instability (MSI-H). One hundred and fifty patients with colorectal cancer who had no family history were enrolled in this study from June 2006 to June 2008. Five standard microsatellite loci including BAT25, BAT26, D2S123, D5S346, and D17S250 were amplified with immunofluorescent polymerase chain reaction. The patient information including age, sex, and tumor location was recorded. Pathological features including differentiation, mucinous differentiation, histological heterogeneity, and Crohn's-like reaction were observed under light microscope. The presence of tumor-infiltrating lymphocytes (TLs, CD4+ and CD8+) was detected by means of immunohistochemistry. A regression equation was obtained by stepwise logistic regression analysis to evaluate the relationship between MSI-H phenotype in colorectal cancer and pathological features. MSI-H phenotype occurred in 13.33% of the 150 patients with non-familial colorectal cancer. Poor differentiation, histological heterogeneity, Crohn's-like reaction, and presence of TLs were found to be independent factors to identify MSI-H non-familial colorectal cancer. Logistic regression equation showed an overall sensitivity of 70.0%, specificity of 99.2%, and accuracy of 95.3% in identifying MSI-H non-familial colorectal cancer. MSI-H non-familial colorectal cancer manifests specific pathological features, which may be relied upon for effective identification of that disease.

  7. "Nothing is carved in stone!": uncertainty in children with cancer and their families.

    Science.gov (United States)

    Woodgate, Roberta Lynn; Degner, Lesley Faith

    2002-12-01

    Although more children are surviving childhood cancer, they and their families still face many new stressors and challenges. Understanding the experiences of childhood cancer in children and families is conditional upon building a sound and comprehensive knowledge base that is grounded in research. Accordingly, a longitudinal interpretive qualitative study was conducted to arrive at an understanding of children's and families' perspectives on having to experience the childhood cancer-symptom trajectory. A purposive sample of 39 children with cancer and their families were recruited into the study. Open-ended interviews and participant observation were the primary data collection methods. Data were analyzed by the constant comparative method of grounded theory and analysis of illness narratives. Findings revealed that in addition to the stress and suffering resulting from the children's multiple symptom experiences, children and their families experienced many other events or 'rough spots' that made cancer and life difficult to get through. Although the 'rough spots' were numerous and varied, they all resulted in children and their families experiencing feelings of uncertainty. This paper focuses on describing the nature of uncertainty experienced by the children with cancer and their families. Recommendations for nursing practice and research are discussed.

  8. Family caregivers' burden: A hospital based study in 2010 among cancer patients from Delhi.

    Science.gov (United States)

    Lukhmana, S; Bhasin, S K; Chhabra, P; Bhatia, M S

    2015-01-01

    A large number of patients with chronic diseases like, cancer are cared for in homes by the family members in India. The vital role that these family members play as "caregivers" is well recognized, however, the burden on them is poorly understood. To assess burden and to determine the predictors of burden on family caregivers of cancer patients. A cross-sectional, hospital based study conducted in National Capital Territory of Delhi. 200 family caregivers of cancer patients were selected by systematic random sampling and interviewed using standard, validated Hindi version of Zarit Burden Interview. Univariate analysis and multivariable logistic regression were carried out using Statistical Package for the Social Sciences software (version 17.0). The study population consisted of 90 (45%) males and 110 (55%) female caregivers aged 18-65 years. 113 (56.5%) caregivers reported no or minimal burden while 75 (37.5%) caregivers reported mild to moderate burden. Using logistic regression marital status, education and type of family of caregivers, occupation of cancer patients and type of treatment facility were found to be the predictors of burden on caregivers. In view of the substantial burden on family caregivers coupled with lack of adequate number of cancer hospitals, there is a public-health imperative to recognize this important group. All levels of health-staff in cancer hospitals in developing countries should be sensitized to the various burdens faced by family caregivers.

  9. Family history of cancer, personal history of medical conditions and risk of oral cavity cancer in France: the ICARE study.

    Science.gov (United States)

    Radoï, Loredana; Paget-Bailly, Sophie; Guida, Florence; Cyr, Diane; Menvielle, Gwenn; Schmaus, Annie; Carton, Matthieu; Cénée, Sylvie; Sanchez, Marie; Guizard, Anne-Valérie; Trétarre, Brigitte; Stücker, Isabelle; Luce, Danièle

    2013-11-28

    The aim of this study was to evaluate the role of family history of cancer and personal history of other medical conditions in the aetiology of the oral cavity cancer in France. We used data from 689 cases of oral cavity squamous cell carcinoma and 3481 controls included in a population-based case-control study, the ICARE study. Odds-ratios (ORs) associated with family history of cancer and personal medical conditions and their 95% confidence intervals (95% CI) were estimated by unconditional logistic regression and were adjusted for age, gender, area of residence, education, body mass index, tobacco smoking and alcohol drinking. Personal history of oral candidiasis was related to a significantly increased risk of oral cavity cancer (OR 5.0, 95% CI 2.1-12.1). History of head and neck cancers among the first-degree relatives was associated with an OR of 1.9 (95% CI 1.2-2.8). The risk increased with the number of first-degree relatives with head and neck cancer. A family history of head and neck cancer is a marker of an increased risk of oral cavity cancer and should be taken into account to target prevention efforts and screening. Further studies are needed to clarify the association between oral cavity cancer and personal history of candidiasis.

  10. Advance directives: cancer patients' preferences and family-based decision making.

    Science.gov (United States)

    Xing, Yan-Fang; Lin, Jin-Xiang; Li, Xing; Lin, Qu; Ma, Xiao-Kun; Chen, Jie; Wu, Dong-Hao; Wei, Li; Yin, Liang-Hong; Wu, Xiang-Yuan

    2017-07-11

    Advance directives are a sensitive issue among traditional Chinese people, who usually refrain from mentioning this topic until it is imperative. Medical decisions for cancer patients are made by their families, and these decisions might violate patients' personal will. This study aimed to examine the acceptance of advance directives among Chinese cancer patients and their families and patient participation in this procedure and, finally, to analyze the moral risk involved. While 246 patients and their family members refused official discussion of an advance directive, the remaining 166 patients and their families accepted the concept of an advance directive and signed a document agreeing to give up invasive treatment when the anti-cancer treatment was terminated. Of these, only 24 patients participated in the decision making. For 101 patients, anti-cancer therapy was ended prematurely with as many as 37 patients not told about their potential loss of health interests. Participants were 412 adult cancer patients from 9 leading hospitals across China. An advance directive was introduced to the main decision makers for each patient; if they wished to sign it, the advance directive would be systematically discussed. A questionnaire was given to the oncologists in charge of each patient to evaluate the interaction between families and patients, patients' awareness of their disease, and participation in an advance directive. Advance directives were not widely accepted among Chinese cancer patients unless anti-cancer therapy was terminated. Most cancer patients were excluded from the discussion of an advance directive.

  11. In Asian Americans, is Having a Family Member Diagnosed with Cancer Associated with Fatalistic Beliefs?

    Science.gov (United States)

    Polek, Carolee; Hardie, Thomas

    2016-01-01

    Cancer can evoke long-held cultural beliefs which either facilitate or impede efforts to expand the health literacy of families. Among these beliefs is fatalism which holds that controlling ones' outcome is not possible, and that ones' outcome is predestined. Some fatalistic beliefs are broadly held within the Asian American (AA) community and may be challenged or reinforced by the experience of having a family member diagnosed with cancer. This study evaluated the relationship between having a family member diagnosed with cancer and selected demographics in AAs on fatalistic beliefs. Data from 519 AA subjects from the Centers for Disease Control and Prevention Health Information Trends Survey were used to complete a secondary analysis. Descriptive statistics characterize fatalistic beliefs. Four models using four questions assessed fatalistic beliefs as dependent variables and independent variables of having or not having a family member diagnosed with cancer, completing college or not, sex, and age were assessed using ordinal regression. All of the fatalistic beliefs examined were endorsed by large portions of the subjects. When considering the role of being exposed to having a family member with cancer, it was associated with an increase in the likelihood in a belief that one is likely to get cancer, and everything can cause cancer. Being exposed to a family member diagnosed with cancer was not significantly associated with believing, there was little one could do to control their cancer risk. This belief was broadly rejected. While the belief that there are so many different recommendations about preventing cancer, it is hard to know what to do, was broadly endorsed and not associated with having a family member diagnosed with cancer. The major practice implications within oncology nursing suggest the importance in assessing cancer health literacy and providing corrective knowledge in families with a member diagnosed with cancer. While recognizing the need for

  12. In Asian americans, is having a family member diagnosed with cancer associated with fatalistic beliefs?

    Directory of Open Access Journals (Sweden)

    Carolee Polek

    2016-01-01

    Full Text Available Objective: Cancer can evoke long-held cultural beliefs which either facilitate or impede efforts to expand the health literacy of families. Among these beliefs is fatalism which holds that controlling ones′ outcome is not possible, and that ones′ outcome is predestined. Some fatalistic beliefs are broadly held within the Asian American (AA community and may be challenged or reinforced by the experience of having a family member diagnosed with cancer. This study evaluated the relationship between having a family member diagnosed with cancer and selected demographics in AAs on fatalistic beliefs. Methods: Data from 519 AA subjects from the Centers for Disease Control and Prevention Health Information Trends Survey were used to complete a secondary analysis. Descriptive statistics characterize fatalistic beliefs. Four models using four questions assessed fatalistic beliefs as dependent variables and independent variables of having or not having a family member diagnosed with cancer, completing college or not, sex, and age were assessed using ordinal regression. Results: All of the fatalistic beliefs examined were endorsed by large portions of the subjects. When considering the role of being exposed to having a family member with cancer, it was associated with an increase in the likelihood in a belief that one is likely to get cancer, and everything can cause cancer. Being exposed to a family member diagnosed with cancer was not significantly associated with believing, there was little one could do to control their cancer risk. This belief was broadly rejected. While the belief that there are so many different recommendations about preventing cancer, it is hard to know what to do, was broadly endorsed and not associated with having a family member diagnosed with cancer. Conclusions: The major practice implications within oncology nursing suggest the importance in assessing cancer health literacy and providing corrective knowledge in families

  13. Family Caregivers in Cancer: Roles and Challenges (PDQ®)—Health Professional Version

    Science.gov (United States)

    Expert-reviewed information summary about the challenges faced by family caregivers of cancer patients. This summary focuses on typical caregiver roles and concerns, and helpful interventions for caregivers.

  14. Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

    Science.gov (United States)

    Thompson, Ella R; Rowley, Simone M; Li, Na; McInerny, Simone; Devereux, Lisa; Wong-Brown, Michelle W; Trainer, Alison H; Mitchell, Gillian; Scott, Rodney J; James, Paul A; Campbell, Ian G

    2016-05-01

    Gene panel sequencing is revolutionizing germline risk assessment for hereditary breast cancer. Despite scant evidence supporting the role of many of these genes in breast cancer predisposition, results are often reported to families as the definitive explanation for their family history. We assessed the frequency of mutations in 18 genes included in hereditary breast cancer panels among index cases from families with breast cancer and matched population controls. Cases (n = 2,000) were predominantly breast cancer-affected women referred to specialized Familial Cancer Centers on the basis of a strong family history of breast cancer and BRCA1 and BRCA2 wild type. Controls (n = 1,997) were cancer-free women from the LifePool study. Sequencing data were filtered for known pathogenic or novel loss-of-function mutations. Excluding 19 mutations identified in BRCA1 and BRCA2 among the cases and controls, a total of 78 cases (3.9%) and 33 controls (1.6%) were found to carry potentially actionable mutations. A significant excess of mutations was only observed for PALB2 (26 cases, four controls) and TP53 (five cases, zero controls), whereas no mutations were identified in STK11. Among the remaining genes, loss-of-function mutations were rare, with similar frequency between cases and controls. The frequency of mutations in most breast cancer panel genes among individuals selected for possible hereditary breast cancer is low and, in many cases, similar or even lower than that observed among cancer-free population controls. Although multigene panels can significantly aid in cancer risk management and expedite clinical translation of new genes, they equally have the potential to provide clinical misinformation and harm at the individual level if the data are not interpreted cautiously. © 2016 by American Society of Clinical Oncology.

  15. Family History of Colorectal Cancer in BRAF p.V600E mutated Colorectal Cancer Cases

    Science.gov (United States)

    Buchanan, Daniel D.; Win, Aung Ko; Walsh, Michael D.; Walters, Rhiannon J.; Clendenning, Mark; Nagler, Belinda; Pearson, Sally-Ann; Macrae, Finlay A.; Parry, Susan; Arnold, Julie; Winship, Ingrid; Giles, Graham G.; Lindor, Noralane M.; Potter, John D.; Hopper, John L.; Rosty, Christophe; Young, Joanne P.; Jenkins, Mark A.

    2014-01-01

    Background Previous reports suggest that relatives of CRC-affected probands carrying the BRAF p.V600E mutation are at an increased risk of colorectal (CRC) and extracolonic cancers (ECCs). In this study, we estimated the association between a family history (FH) of either CRC or ECC and risk of CRC with a BRAF p.V600E mutation. Methods Population-based CRC cases (probands; aged 18–59years at diagnosis), recruited irrespective of family cancer history, were characterised for BRAF p.V600E mutation and mismatch repair (MMR) status. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using multivariable logistic regression. Results The 690 eligible probands demonstrated a mean age at CRC diagnosis of 46.9±7.8years, with 313 (47.9%) reporting a FH of CRC and 53 (7.7%) that were BRAF-mutated. Probands with BRAF-mutated, MMR-proficient CRCs were less likely to have a FH of CRC than probands that were BRAF-wildtype (OR=0.46, 95%CI=0.24–0.91; p=0.03). For probands with a BRAF-mutated CRC, the mean age at diagnosis was older for those with a CRC-affected first- or second-degree relative (49.3±6.4 years) compared with those without a FH (43.8±10.2 years; p=0.04). The older the age at diagnosis of CRC with the BRAF p.V600E mutation, the more likely these probands demonstrated a FH of CRC (OR=1.09 per year of age; 95%CI=1.00–1.18; p=0.04). Conclusions Probands with early-onset, BRAF-mutated and MMR-proficient CRC were less likely to have a FH of CRC than probands that were BRAF-wildtype. Impact These findings provide useful insights for cancer risk assessment in families and suggest that familial or inherited factors are more important in early onset, BRAF-wildtype CRC. PMID:23462926

  16. Interventions with Family Caregivers of Cancer Patients: Meta-Analysis of Randomized Trials

    OpenAIRE

    Northouse, Laurel L; Katapodi, Maria; Song, Lixin; Zhang, Lingling; Mood, Darlene W.

    2010-01-01

    Family caregivers of cancer patients receive little preparation, information, or support to carry out their caregiving role. However, their psychosocial needs must be addressed so they can maintain their own health and provide the best possible care to the patient. The purpose of this article was to analyze the types of interventions offered to family caregivers of cancer patients, and to determine the effect of these interventions on various caregiver outcomes. Meta-analysis was used to anal...

  17. Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.

    Science.gov (United States)

    Wirtenberger, Michael; Frank, Bernd; Hemminki, Kari; Klaes, Rüdiger; Schmutzler, Rita K; Wappenschmidt, Barbara; Meindl, Alfons; Kiechle, Marion; Arnold, Norbert; Weber, Bernhard H F; Niederacher, Dieter; Bartram, Claus R; Burwinkel, Barbara

    2006-08-01

    Mutations of the human RecQ helicase genes WRN and BLM lead to rare autosomal recessive disorders, Werner and Bloom syndromes, which are associated with premature ageing and cancer predisposition. We tested the hypothesis whether three polymorphic, non-conservative amino acid exchanges in WRN and BLM act as low-penetrance familial breast cancer risk factors. Moreover, we examined the putative impact of p53 MspI 1798G>A, which is completely linked to p53PIN3, a 16 bp insertion/duplication that has been associated with reduced p53 expression, on familial breast cancer risk. Genotyping analyses, performed on 816 BRCA1/2 mutation-negative German familial breast cancer patients and 1012 German controls, revealed a significant association of the WRN Cys1367Arg polymorphism with familial breast cancer (OR = 1.28, 95% CI 1.06-1.54) and high-risk familial breast cancer (OR = 1.32, 95% CI 1.06-1.65). The analysis of p53 MspI 1798G>A, which is completely linked to p53PIN3, showed a significantly increased familial breast cancer risk for carriers of the 16 bp insertion/duplication, following a recessive mode (OR = 2.15, 95% CI = 1.12-4.11). WRN Cys1367Arg, located in the C-terminus, the binding site of p53, is predicted to be damaging. The joint effect of WRN Cys1367Arg and p53 MspI resulted in an increased breast cancer risk compared to the single polymorphisms (OR = 3.39, 95% CI 1.19-9.71). In conclusion, our study indicates the importance of inherited variants in the WRN and p53 genes for familial breast cancer susceptibility.

  18. Prognostic values of distinct CBX family members in breast cancer

    NARCIS (Netherlands)

    Liang, Yuan-Ke; Lin, Hao-Yu; Chen, Chun-Fa; Zeng, De

    2017-01-01

    Chromobox (CBX) family proteins are canonical components in polycomb repressive complexes 1 (PRC1), with epigenetic regulatory function and transcriptionally repressing target genes via chromatin modification. A plethora of studies have highlighted the function specifications among CBX family

  19. Familial aggregation of childhood and adult cancer in the Utah genealogy.

    Science.gov (United States)

    Neale, Rachel E; Stiller, Charles A; Bunch, Kathryn J; Milne, Elizabeth; Mineau, Geraldine P; Murphy, Michael F G

    2013-12-15

    A small proportion of childhood cancer is attributable to known hereditary syndromes, but whether there is any familial component to the remainder remains uncertain. We explored familial aggregation of cancer in a population-based case-control study using genealogical record linkage and designed to overcome limitations of previous studies. Subjects were selected from the Utah Population Database. We compared risk of cancer in adult first-degree relatives of children who were diagnosed with cancer with the risk in relatives of children who had not had a cancer diagnosed. We identified 1,894 childhood cancer cases and 3,788 controls; 7,467 relatives of cases and 14,498 relatives of controls were included in the analysis. Relatives of children with cancer had a higher risk of cancer in adulthood than relatives of children without cancer [odds ratio (OR) 1.31, 95% confidence interval (CI) 1.11-1.56]; this was restricted to mothers and siblings and was not evident in fathers. Familial aggregation appeared stronger among relatives of cases diagnosed before 5 years of age (OR 1.48, 95% CI 1.13-1.95) than among relatives of cases who were older when diagnosed (OR 1.22, 95% CI 0.98-1.51). These findings provide evidence of a generalized excess of cancer in the mothers and siblings of children with cancer. The tendency for risk to be higher in the relatives of children who were younger at cancer diagnosis should be investigated in other large data sets. The excesses of thyroid cancer in parents of children with cancer and of any cancer in relatives of children with leukemia merit further investigation. Copyright © 2013 UICC.

  20. Cancer and Anorexia Nervosa in the Adolescence: A Family-Based Systemic Intervention

    Directory of Open Access Journals (Sweden)

    Gabriella De Benedetta

    2011-01-01

    Full Text Available Objective. Anorexia nervosa is difficult to diagnose in cancer patients since weight loss, aversion for food, and eating disturbances are frequent in patients undergoing chemotherapy and radiotherapy. Nevertheless, efforts are mandatory to recognize and manage this condition which may occur also in cancer patients with a special regard to adolescents. Methods. Through the clinical history of Anna, a 15-year-old adolescent with advanced cancer, we describe the effectiveness of a family-based systemic intervention to manage anorexia nervosa occurring in concomitance to osteosarcoma. Results. Through a two-year psychotherapy period involving different techniques applied to the whole family such as family genogram, family collage, and sculpture of family time, Anna was relieved from her condition. Conclusions. Upon early diagnosis and appropriate treatment, anorexia nervosa can be effectively approached in adolescent cancer patients. The presence of a life-threatening medical condition such as cancer may provide motivation for a patient to control disordered eating behavior in the context of an appropriate family-based systemic intervention. The general frame of anorexia occurring in cancer-bearing adolescents is reviewed and discussed.

  1. A Comparative Study on the Meaning in Life of Patients with Cancer and Their Family Members.

    Science.gov (United States)

    Hassankhani, Hadi; Soheili, Amin; Hosseinpour, Issa; Eivazi Ziaei, Jamal; Nahamin, Mina

    2017-12-01

    Introduction: The overwhelming effects of cancer could be catastrophic for the patients and their family members, putting them at risk of experiencing uncertainty, loss, and an interruption in life. Also, it can influence their sense of meaning, a fundamental need equated with the purpose in life. Accordingly, this study aimed to compare the meaning in life (MiL) of patients with cancer and their family members. Methods: This descriptive comparative study was conducted on 400 patients with cancer and their family members admitted to university hospitals in Tabriz and Ardebil provinces, Iran. The participants were sampled conveniently and the Life Evaluation Questionnaire (LEQ) were used for collecting data analyzed through descriptive and inferential statistics in SPSS ver. 13 Software. Results: The mean score for the MiL of the patients with cancer and their family members was 119 (16.92) and 146.2 (17.07), respectively. There was a significant difference between patients with cancer and their family members in terms of MiL. Conclusion: The MiL of patients with cancer is lower than that of their family members, which indicates the need for further attention to the psychological processes and their modification in Iranian healthcare systems.

  2. The relationship of colorectal cancer with familial history of gastrointestinal cancers and personal history of colon polyps in Khorramabad(2012

    Directory of Open Access Journals (Sweden)

    korosh Ghanadi

    2014-01-01

    Full Text Available Background: The aim of this study was to investigate the relationship of familial history of gastrointestinal cancers and personal history of colon polyps with colorectal cancer incidence in khorramabad in 2012. Materials and Methods: This cross-sectional study included 50 patients with definite diagnosis of colon cancer based on colonoscopy and pathology in 2012. The control group included 56 persons from outpatients without a history of gastrointestinal diseases admitted to the skin and eye clinics of shohada ashayer hospital, who were matched with the patients for age and gender. The two groups were studied in terms of familial history of gastrointestinal diseases in immediate relatives and personal history of colorectal polyps using a self-constructed questionnaire. Fisher exact test and odds ratio estimate was used for data analysis. Results: The mean age of the patients was 52.8±15.5 years old, and 56% were male. A significant relationship was found between familial history of gastric and colon cancers in immediate relatives and colorectal cancer incidence in the patients (p<0.05. The odds ratio estimate of colorectal cancer incidence in the individuals with a positive history of gastric cancer and colon cancers in immediate relatives were respectively 3.96(CI=1.44-6.61 and 6.75 (CI=2.4-11.1 times of the estimate in the control individuals. No significant relationship was found between a history of esophageal cancers in immediate relatives with colon cancer incidence in the patients (p=0.61. Moreover, a significant relationship was found between a history of colon polyps and colorectal cancer incidence (p=0.004. Conclusion: The results of the present study should be confirmed in the further studies with larger sample sizes, so that serious measures to control the cancer can be taken through developing comprehensive prevention programs based on screening.

  3. The influence of family adaptability and cohesion on anxiety and depression of terminally ill cancer patients.

    Science.gov (United States)

    Park, Young-Yoon; Jeong, Young-Jin; Lee, Junyong; Moon, Nayun; Bang, Inho; Kim, Hyunju; Yun, Kyung-Sook; Kim, Yong-I; Jeon, Tae-Hee

    2017-10-04

    This study investigated the effect of family members on terminally ill cancer patients by measuring the relationship of the presence of the family caregivers, visiting time by family and friends, and family adaptability and cohesion with patient's anxiety and depression. From June, 2016 to March, 2017, 100 terminally ill cancer patients who were admitted to a palliative care unit in Seoul, South Korea, were surveyed, and their medical records were reviewed. The Korean version of the Family Adaptability and Cohesion Evaluation Scales III and Hospital Anxiety-Depression Scale was used. Chi-square and multiple logistic regression analyses were used. The results of the chi-square analysis showed that the presence of family caregivers and family visit times did not have statistically significant effects on anxiety and depression in terminally ill cancer patients. In multiple logistic regression, when adjusted for age, sex, ECOG PS, and the monthly average income, the odds ratios (ORs) of the low family adaptability to anxiety and depression were 2.4 (1.03-5.83) and 5.4 (1.10-26.87), respectively. The OR of low family cohesion for depression was 5.4 (1.10-27.20) when adjusted for age, sex, ECOG PS, and monthly average household income. A higher family adaptability resulted in a lower degree of anxiety and depression in terminally ill cancer patients. The higher the family cohesion, the lower the degree of depression in the patient. The presence of the family caregiver and the visiting time by family and friends did not affect the patient's anxiety and depression.

  4. Risk of incident and fatal melanoma in individuals with a family history of incident or fatal melanoma or any cancer.

    Science.gov (United States)

    Brandt, A; Sundquist, J; Hemminki, K

    2011-08-01

    A family history of melanoma is associated with an increased risk of melanoma and probably of other, discordant cancers. Limited data are available on familial mortality in melanoma. If fatal forms of melanoma were associated with fatal forms of melanoma or of some other cancers, only studies on familial mortality rather than on familial incidence might be able to detect them. Furthermore, estimates on familial aggregation based on mortality are free from bias of overdiagnosis. The aim of this study was the estimation of familial aggregation of concordant melanoma and of melanoma and any other cancers based both on incidence and on mortality. We used the nationwide Swedish Family-Cancer Database to calculate standardized incidence ratios (SIRs) for incident melanoma for relatives of any cancer patients and standardized mortality ratios (SMRs) for death from melanoma for relatives of individuals who died from any other cancer. Similar risks were determined for any common cancer when relatives were affected by melanoma. For concordant melanoma, familial incidence equalled familial mortality, SIR=SMR. Familial clustering (SIRs increased) of melanoma and oesophageal, colorectal, breast, prostate, kidney, nervous system and connective tissue cancers and myeloma and leukaemia was observed. The SMRs for pancreatic and nervous system cancers were increased in relatives whose parents had died from melanoma. These data should encourage a search for fatal subtypes of familial cancer, which may eventually have clinical implications. © 2011 The Authors. BJD © 2011 British Association of Dermatologists 2011.

  5. Genome-wide sequencing to identify the cause of hereditary cancer syndromes: with examples from familial pancreatic cancer

    Science.gov (United States)

    Roberts, Nicholas J.; Klein, Alison P.

    2013-01-01

    Advances in our understanding of the human genome and next-generation technologies have facilitated the use of genome-wide sequencing to decipher the genetic basis of Mendelian disease and hereditary cancer syndromes. The application of genome-wide sequencing in hereditary cancer syndromes has had mixed success, in part, due to complex nature of the underlying genetic architecture. In this review we discuss the use of genome-wide sequencing in both Mendelian diseases and hereditary cancer syndromes, highlighting the potential and challenges of this approach using familial pancreatic cancer as an example. PMID:23196058

  6. A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

    DEFF Research Database (Denmark)

    Mesher, David; Dove-Edwin, Isis; Sasieni, Peter

    2014-01-01

    Surveillance guidelines for the management of familial colorectal cancer (FCC), a dominant family history of colorectal cancer in which the polyposis syndromes and Lynch syndrome have been excluded, are not firmly established. The outcome of colonoscopic surveillance is studied using data from six...... colorectal cancers were diagnosed, 120 (7.6%) individuals had high-risk adenomas and 225 (14.2%) simple adenomas. One thousand eighty-eight individuals had a further colonoscopy (median follow-up of 6.2 years). Of nine individuals diagnosed with cancer, eight had a previous history of at least one polyp....../adenoma. High-risk adenomas were detected in 92 (8.7%) and multiple adenomas were detected in 20 (1.9%) individuals. Both FCC type X and LOFCC have a high prevalence of colorectal cancers and on follow-up develop high-risk adenomas (including multiple adenomas), but infrequent interval cancers. They should...

  7. Family history of colorectal cancer: A determinant of advanced adenoma stage or adenoma multiplicity?

    NARCIS (Netherlands)

    Wark, P.A.; Wu, K.; Veer, van 't P.; Fuchs, C.F.; Giovannucci, E.L.

    2009-01-01

    A family history of colorectal cancer may increase colorectal cancer risk by influencing adenoma growth or enhancing the formation of new lesions. Data of men from the prospective Health Professionals Follow-Up Study who underwent an endoscopy between 1986 and 2004 were used to evaluate whether a

  8. [Recognising hereditary non-polyposis colorectal cancer without a clear family history

    NARCIS (Netherlands)

    Bruin, J.H.F.M. de; Nagengast, F.M.; Ligtenberg, M.J.L.; Krieken, J.H.J.M. van; Niermeijer, M.F.; Hoogerbrugge-van der Linden, N.

    2004-01-01

    In 3 patients, 2 men aged 46 and 51 years and a woman aged 54 years, with colorectal cancer there was insufficient information on the basis of the family history to diagnose 'hereditary non-polyposis colorectal cancer' (HNPCC). Further investigation showed microsatellite instability in the tumour

  9. Parental type of personality, negative affectivity and family stressful events in children with cancer.

    Science.gov (United States)

    Jakovljević, Gordana; Culić, Srđana; Benko, Marta; Jakupcević, Katja Kalebić; Stepan, Jasminka; Sprajc, Mirjana

    2010-09-01

    Psychological interactions between parents,children and social environment are very important for childhood health. The type of personality and stressful events are probably also cancer risk factors. We investigated personality types A/B and D (negative affectivity and social inhibition) in parents of children with cancer (PCC), as well as social environmental factors, and family / children's stressful events before the appearance of cancer. Bortner Type A Scale for evaluating parental type A/B personality, and 14 question personality test (DS14) for parental type D personality (negative affectivity and social inhibition score) were performed. Questionnaire eligible information about stressful events and social environmental factors in children with cancer (CC) were analyzed. Analyzing 127 PCC and 136 parents of healthy children (PHC) we found no significant differences in A/B type personality and social inhibition. There was significant difference in negative affectivity. PCC had more negative affectivity than PHC. We found more stressful events before cancer appearance in the families of children with cancer (FCC) than in healthy families (FHC), and more children's stressful events in CC then in healthy ones (HC). There were more quarrels in FCC, while CC were more "easy good-mannered children" than HC. Our results support the hypothesis that stress is a cancer risk factor and the idea that impaired parental functioning may be a mechanism linking family stress with the aetiology of cancer.

  10. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

    Science.gov (United States)

    Esteban-Jurado, Clara; Vila-Casadesús, Maria; Garre, Pilar; Lozano, Juan José; Pristoupilova, Anna; Beltran, Sergi; Muñoz, Jenifer; Ocaña, Teresa; Balaguer, Francesc; López-Cerón, Maria; Cuatrecasas, Miriam; Franch-Expósito, Sebastià; Piqué, Josep M; Castells, Antoni; Carracedo, Angel; Ruiz-Ponte, Clara; Abulí, Anna; Bessa, Xavier; Andreu, Montserrat; Bujanda, Luis; Caldés, Trinidad; Castellví-Bel, Sergi

    2015-02-01

    Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair genes, but many cases present familial aggregation but an unknown inherited cause. The hypothesis of rare high-penetrance mutations in new genes is a likely explanation for the underlying predisposition in some of these familial cases. Exome sequencing was performed in 43 patients with colorectal cancer from 29 families with strong disease aggregation without mutations in known hereditary colorectal cancer genes. Data analysis selected only very rare variants (0-0.1%), producing a putative loss of function and located in genes with a role compatible with cancer. Variants in genes previously involved in hereditary colorectal cancer or nearby previous colorectal cancer genome-wide association study hits were also chosen. Twenty-eight final candidate variants were selected and validated by Sanger sequencing. Correct family segregation and somatic studies were used to categorize the most interesting variants in CDKN1B, XRCC4, EPHX1, NFKBIZ, SMARCA4, and BARD1. We identified new potential colorectal cancer predisposition variants in genes that have a role in cancer predisposition and are involved in DNA repair and the cell cycle, which supports their putative involvement in germ-line predisposition to this neoplasm.

  11. The impact of parental cancer on children and the family : a review of the literature

    NARCIS (Netherlands)

    Visser, A; Huizinga, GA; van der Graaf, WTA; Hoekstra, HJ; Hoekstra-Weebers, JEHM

    2004-01-01

    Objective. Children of cancer patients may go through a distressing time. The aim of this review was to survey present knowledge on the impact of parental cancer on children and the family. Design. Studies published between January 1980 and March 2004 addressing emotional, social, behavioural,

  12. The influence of family history on prostate cancer risk : implications for clinical management

    NARCIS (Netherlands)

    Madersbacher, Stephan; Alcaraz, Antonio; Emberton, Mark; Hammerer, Peter; Ponholzer, Anton; Schroeder, Fritz H.; Tubaro, Andrea

    A family history of prostate cancer has long been identified as an important risk factor for developing the disease. This risk factor can be easily assessed in clinical practice and current guidelines recommend to initiate prostate cancer early detection 5 years earlier (i.e. around the age of 40

  13. Types of cancers diagnosed and the preference of families of adult ...

    African Journals Online (AJOL)

    Background: Cancer has become one of the top causes of death in developing nations killing more people than the common infectious diseases do. For several reasons, disclosing cancer diagnosis to the patient is a challenging job for physicians and family members. Materials and methods: A cross-sectional study was ...

  14. Biased cognitive processing of cancer-related information among women with family histories of breast cancer: evidence from a cancer stroop task.

    Science.gov (United States)

    Erblich, Joel; Montgomery, Guy H; Valdimarsdottir, Heiddis B; Cloitre, Marylene; Bovbjerg, Dana H

    2003-05-01

    Stimuli associated with sources of stress have been shown to interfere with cognition. The authors hypothesized that women with the stress of having a family history of breast cancer (FH+) would exhibit greater interference on a task with cancer-related stimuli than women without cancer in the family (FH-). The authors developed a modified Stroop color-naming task to test this hypothesis in a sample of FH+ (n = 72) and FH- (n = 96) women. Consistent with the hypotheses, FH+ women had longer color-naming times and more errors (ps cancer word list relative to noncancer lists. This biased processing was not mediated by the significantly higher perceived risk, general distress, or cancer-specific distress in FH+ women. Maladaptive alterations in processing cancer stimuli may have important clinical implications, as these women must process complex cancer-related information critical to their health (e.g., options for chemoprevention, screening).

  15. Expression of myc family oncoproteins in small-cell lung-cancer cell lines and xenografts

    DEFF Research Database (Denmark)

    Rygaard, K; Vindeløv, L L; Spang-Thomsen, M

    1993-01-01

    A number of genes have altered activity in small-cell lung cancer (SCLC), but especially genes of the myc family (c-myc, L-myc and N-myc) are expressed at high levels in SCLC. Most studies have explored expression at the mRNA level, whereas studies of myc family oncoprotein expression are sparse....

  16. Cost-Effectiveness of Screening Women With Familial Risk for Breast Cancer With Magnetic Resonance Imaging

    NARCIS (Netherlands)

    Saadatmand, S.; Tilanus-Linthorst, M.M.; Rutgers, E.J.; Hoogerbrugge, N.; Oosterwijk, J.C.; Tollenaar, R.A.E.M.; Hooning, M.; Loo, C.E.; Obdeijn, I.M.; Heijnsdijk, E.A.; Koning, H.J. de

    2013-01-01

    BACKGROUND: To reduce mortality, women with a family history of breast cancer are often screened with mammography before age 50 years. Additional magnetic resonance imaging (MRI) improves sensitivity and is cost-effective for BRCA1/2 mutation carriers. However, for women with a family history

  17. Family functioning and adolescents' emotional and behavioral problems : when a parent has cancer

    NARCIS (Netherlands)

    Gazendam-Donofrio, S.M.; Hoekstra, H.J.; van der Graaf, W.T.A.; van de Wiel, H.B.; Visser, Annemieke; Huizinga, G.A.; Hoekstra-Weebers, J.E.

    2007-01-01

    Background: This article focuses on possible relationships between functioning of adolescents with a parent diagnosed with cancer 1-5 years earlier and family environment. Patients and methods: In all, 138 patients, 114 spouses and 221 adolescents completed the Family Environment Scale.

  18. Family functioning and adolescents' emotional and behavioral problems : when a parent has cancer.

    NARCIS (Netherlands)

    Gazendam-Donofrio, S.M.; Hoekstra, H.J.; Graaf, W.T.A. van der; Wiel, H.B. van de; Visser, A.; Huizinga, G.A.; Hoekstra-Weebers, J.E.

    2007-01-01

    BACKGROUND: This article focuses on possible relationships between functioning of adolescents with a parent diagnosed with cancer 1-5 years earlier and family environment. PATIENTS AND METHODS: In all, 138 patients, 114 spouses and 221 adolescents completed the Family Environment Scale.

  19. Early detection of breast and ovarian cancer in families with BRCA mutations

    NARCIS (Netherlands)

    Vasen, HFA; Tesfay, E; Mourits, MJE; Rutgers, E; Verheyen, R; Oosterwijk, J; Beex, L; Boonstra, J.

    Women at risk of breast and ovarian cancer due to a genetic predisposition may opt for preventive surgery or surveillance. The aim of this study was to determine the effectiveness of surveillance in families with a BRCA mutation. Sixty-eight BRCA-families underwent surveillance using annual

  20. Risk estimation for healthy women from breast cancer families : New insights and new strategies

    NARCIS (Netherlands)

    van Asperen, CJ; Jonker, MA; Jacobi, CE; van Diemen-Homan, JEM; Bakker, E; Breuning, MH; van Houwelingen, JC; de Bock, GH

    Risk estimation in breast cancer families is often estimated by use of the Claus tables. We analyzed the family histories of 196 counselees; compared the Claus tables with the Claus, the BRCA1/2, the BRCA1/2/ models; and performed linear regression analysis to extend the Claus tables with

  1. The importance of older family members in providing social resources and promoting cancer screening in families with a hereditary cancer syndrome.

    Science.gov (United States)

    Ashida, Sato; Hadley, Donald W; Goergen, Andrea F; Skapinsky, Kaley F; Devlin, Hillary C; Koehly, Laura M

    2011-12-01

    This study evaluates the role of older family members as providers of social resources within familial network systems affected by an inherited cancer susceptibility syndrome.  Respondents who previously participated in a study that involved genetic counseling and testing for Lynch syndrome and their family network members were invited to participate in a onetime telephone interview about family communication. A total of 206 respondents from 33 families identified 2,051 social relationships (dyads). Nineteen percent of the respondents and 25% of the network members were older (≥60 years). Younger respondents (≤59 years) were more likely to nominate older network members as providers of social resources than younger members: instrumental support (odds ratio [OR] = 1.68), emotional support (OR = 1.71), help in crisis situation (OR = 2.04), and dependability when needed (OR = 2.15). Compared with younger network members, older members were more likely to be listed as encouragers of colon cancer screening by both younger (OR = 3.40) and older respondents (OR = 1.90) independent of whether support exchange occurred in the relationship. Engaging older network members in health interventions to facilitate screening behaviors and emotional well-being of younger members within families affected by inherited conditions may be beneficial. Findings can be used to empower older individuals about their important social roles in enhancing the well-being of their family members and to inform younger individuals about their older relatives' resourcefulness to facilitate positive social interactions.

  2. Psychological impact of the diagnosis of breast cancer on the patient and her family.

    Science.gov (United States)

    Northouse, L L

    1992-01-01

    The diagnosis of breast cancer creates emotional distress for patients as well as family members. This article reviews studies on the psychological adjustment of women and their family members during the diagnosis, hospitalization, and early convalescence from breast surgery. Studies indicate that the diagnostic phase is an extremely stressful time for women, marked by high anxiety, uncertainty, and difficulty making decisions. The hospital phase is especially difficult for spouses, who must juggle work responsibilities with added home responsibilities and also spend time at the hospital supporting their wives. In the convalescent phase, patients and family members need to adjust to changes in family roles, cope with fears about recurrence, and learn to balance the needs of all family members. In order to provide high quality health care to breast cancer patients and their family members, physicians and nurses need to address the emotional as well as the physical aspects of recovery.

  3. Risk of thyroid cancer in euthyroid asymptomatic patients with thyroid nodules with an emphasis on family history of thyroid cancer

    Energy Technology Data Exchange (ETDEWEB)

    JHwang, Shin Hye; Kim, Eun Kyung; Moon, Hee Jung; Yoon, Jung Hyun; Kwak, Jin Young [Dept. of Radiology, Research Institute of Radiological Science, Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2016-04-15

    To determine the factors associated with thyroid cancer, focusing on first-degree family history and ultrasonography (US) features, in euthyroid asymptomatic patients with thyroid nodules. This retrospective study included 1310 thyroid nodules of 1254 euthyroid asymptomatic patients who underwent US-guided fine-needle aspiration biopsy between November 2012 and August 2013. Nodule size and clinical risk factors- such as patient age, gender, first-degree family history of thyroid cancer, multiplicity on US and serum thyroid stimulating hormone (TSH) levels - were considered together with US features to compare benign and malignant nodules. Multiple logistic regression analysis was performed to assess the risk of thyroid malignancy according to clinical and US characteristics. Although all of the clinical factors and US findings were significantly different between patients with benign and malignant nodules, a solitary lesion on US (p = 0.041–0.043), US features and male gender (p < 0.001) were significant independent risk factors for thyroid malignancy in a multivariate analysis. Patient age, a first-degree family history of thyroid cancer and high normal serum TSH levels did not independently significantly increase the risk of thyroid cancer. However, multicollinearity existed between US assessment and patient age, first-degree family history of thyroid cancer and serum TSH values. Ultrasonography findings should be the primary criterion used to decide the management of euthyroid asymptomatic patients with thyroid nodules. The concept of first-degree family history as a risk factor for thyroid malignancy should be further studied in asymptomatic patients.

  4. Genomic DNA copy-number alterations of the let-7 family in human cancers.

    Directory of Open Access Journals (Sweden)

    Yanling Wang

    Full Text Available In human cancer, expression of the let-7 family is significantly reduced, and this is associated with shorter survival times in patients. However, the mechanisms leading to let-7 downregulation in cancer are still largely unclear. Since an alteration in copy-number is one of the causes of gene deregulation in cancer, we examined copy number alterations of the let-7 family in 2,969 cancer specimens from a high-resolution SNP array dataset. We found that there was a reduction in the copy number of let-7 genes in a cancer-type specific manner. Importantly, focal deletion of four let-7 family members was found in three cancer types: medulloblastoma (let-7a-2 and let-7e, breast cancer (let-7a-2, and ovarian cancer (let-7a-3/let-7b. For example, the genomic locus harboring let-7a-3/let-7b was deleted in 44% of the specimens from ovarian cancer patients. We also found a positive correlation between the copy number of let-7b and mature let-7b expression in ovarian cancer. Finally, we showed that restoration of let-7b expression dramatically reduced ovarian tumor growth in vitro and in vivo. Our results indicate that copy number deletion is an important mechanism leading to the downregulation of expression of specific let-7 family members in medulloblastoma, breast, and ovarian cancers. Restoration of let-7 expression in tumor cells could provide a novel therapeutic strategy for the treatment of cancer.

  5. Assessment of family history of colorectal cancer in primary care: perceptions of first degree relatives of people with colorectal cancer.

    Science.gov (United States)

    Cameron, Emilie; Rose, Shiho; Carey, Mariko

    2014-03-01

    First degree relatives (FDRs) of someone with colorectal cancer (CRC) are at increased risk of the disease. In this study we examine the factors associated with discussing family history of CRC with a health professional. People with CRC, recruited through the population-based Victorian Cancer Registry in Australia, were asked to refer FDRs to the study. Eight hundred and nineteen FDRs completed a telephone interview. Thirty-six percent of FDRs recalled ever being asked about their family history of bowel cancer by a health professional. Factors associated with having this discussion were being aged 50-60 years, having a university education, being in the potentially high risk category, being very worried about getting bowel cancer and knowing that family history increases risk through discussions with family, friends or their own education. Despite evidence that doctor endorsement is a key factor in the uptake of CRC screening, our study shows that the majority of FDRs do not recall being asked by a health professional about their family history. There is a need to identify the most appropriate method to improve rates of health professional discussion of family history with relatives of CRC patients in order to improve screening rates. Copyright © 2013 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  6. Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

    Directory of Open Access Journals (Sweden)

    Eevi Kaasinen

    Full Text Available Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer Registry (FCR for analyzing familial aggregation of all types of cancer, in order to find evidence for previously unrecognized cancer susceptibility conditions. We performed a systematic clustering of 878,593 patients in FCR based on family name at birth, municipality of birth, and tumor type, diagnosed between years 1952 and 2011. We also estimated the familial occurrence of the tumor types using cluster score that reflects the proportion of patients belonging to the most significant clusters compared to all patients in Finland. The clustering effort identified 25,910 birth name-municipality based clusters representing 183 different tumor types characterized by topography and morphology. We produced information about familial occurrence of hundreds of tumor types, and many of the tumor types with high cluster score represented known cancer syndromes. Unexpectedly, Kaposi sarcoma (KS also produced a very high score (cluster score 1.91, p-value <0.0001. We verified from population records that many of the KS patients forming the clusters were indeed close relatives, and identified one family with five affected individuals in two generations and several families with two first degree relatives. Our approach is unique in enabling systematic examination of a national epidemiological database to derive evidence of aberrant familial aggregation of all tumor types, both common and rare. It allowed effortless identification of families displaying features of both known as well as potentially novel cancer predisposition conditions, including striking familial aggregation of KS. Further work with high-throughput methods should elucidate the molecular basis of the potentially novel predisposition conditions

  7. Prevalence of family history of breast, colorectal, prostate, and lung cancer in a population-based study.

    Science.gov (United States)

    Mai, P L; Wideroff, L; Greene, M H; Graubard, B I

    2010-01-01

    A positive family history is a known risk factor for several cancers; thus, obtaining a thorough family cancer history is essential in cancer risk evaluation and prevention management. The Family Health Study, a telephone survey in Connecticut, was conducted in 2001. A total of 1,019 participants with demographic information and family cancer history were included in this study. Prevalence of a positive family history of breast, colorectal, prostate, and lung cancer for first- and second-degree relatives was estimated. Logistic regression was used to compare prevalence by demographic factors. A positive family history among first-degree relatives was reported by 10.9% (95% Confidence Interval, CI = 8.8-13.3) of respondents for breast cancer, 5.1% (95% CI = 3.9-6.7) for colorectal cancer, 7.0% (95% CI = 5.2-9.4) for prostate cancer, and 6.4% (95% CI = 4.9-8.3) for lung cancer. The reported prevalence of family history of specific cancers varied by sex, age and race/ethnicity of the respondents. Family history prevalence for 4 of the most common adult solid tumors is substantial and the reported prevalence varied by respondent characteristics. Additional studies are needed to evaluate tools to promote accurate reporting of family history of cancer. Copyright © 2010 S. Karger AG, Basel.

  8. Expression of the EGF Family in Gastric Cancer

    DEFF Research Database (Denmark)

    Nielsen, Trine Ostergaard; Friis-Hansen, Lennart; Poulsen, Steen Seier

    2014-01-01

    Gastric cancer is a major cause of cancer-related deaths in both men and women. The epidermal growth factor receptors are EGFR, HER2, HER3 and HER4. Of the four epidermal growth factor receptors, EGFR and HER2 are well-known oncogenes involved in gastric cancer. Little, however, is known about...... the role played by HER3 and HER4 in this disease. We obtained paired samples from the tumor and the adjacent normal tissue from the same patient undergoing surgery for gastric cancer. Using RT-qPCR, we quantified the mRNA expression of the four receptors including the HER4 splicing isoforms and all....... These results support the involvement of EGFR and HER2 in gastric cancer and suggest an interesting association of reduced HER4 expression with development of gastric cancer....

  9. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

    NARCIS (Netherlands)

    Vasen, HFA; Wijnen, JT; Menko, FH; Kleibeuker, JH; Taal, BG; Griffioen, G; Nagengast, FM; MeijersHeijboer, EH; Bertario, L; Varesco, L; Bisgaard, ML; Mohr, J; Fodde, R; Khan, PM

    Background & Aims: Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers, The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of

  10. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

    NARCIS (Netherlands)

    Vasen, H. F.; Wijnen, J. T.; Menko, F. H.; Kleibeuker, J. H.; Taal, B. G.; Griffioen, G.; Nagengast, F. M.; Meijers-Heijboer, E. H.; Bertario, L.; Varesco, L.; Bisgaard, M. L.; Mohr, J.; Fodde, R.; Khan, P. M.

    1996-01-01

    Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers. The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of carriers within

  11. Coping with colorectal cancer: a qualitative exploration with patients and their family members.

    Science.gov (United States)

    Asiedu, Gladys B; Eustace, Rosemary W; Eton, David T; Radecki Breitkopf, Carmen

    2014-10-01

    Extensive family coping research has been conducted among breast cancer, prostate cancer and melanoma with lesser emphasis on the coping experiences of colorectal cancer (CRC) patients and their family members. To examine ways in which patients and their family members cope with the diagnosis of CRC. A total of 73 participants (21 patients, 52 family members) from 23 families described their experiences during and after a CRC diagnosis, including their coping experiences with the diagnosis. Data from semi-structured interviews were audio recorded and transcribed. The data were analyzed utilizing content analysis with inductive coding methods. Eight major themes were identified: positive reframing, holding on to a sense of normalcy, religion and spirituality, joining a group, creating awareness of CRC, lifestyle change, seeking information and alternative treatments. Maintaining an emotional sense of normalcy through positive thinking, engaging in activities to take one's mind off the diagnosis and believing that there is a higher authority which has control over the diagnosis and life were vital for the patients and their family members. Patients and family members used similar coping strategies. Findings from this study have implications for understanding how families blend emotion-based and problem-focused coping strategies in the face of a CRC diagnosis. Further developing evidence-based interventions that target coping and well-being in cancer patients and extending them to family members is necessary and holds great promise for providers who care for patients with familial cancers. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  12. Family history and the natural history of colorectal cancer: systematic review.

    Science.gov (United States)

    Henrikson, Nora B; Webber, Elizabeth M; Goddard, Katrina A; Scrol, Aaron; Piper, Margaret; Williams, Marc S; Zallen, Doris T; Calonge, Ned; Ganiats, Theodore G; Janssens, A Cecile J W; Zauber, Ann; Lansdorp-Vogelaar, Iris; van Ballegooijen, Marjolein; Whitlock, Evelyn P

    2015-09-01

    Family history of colorectal cancer (CRC) is a known risk factor for CRC and encompasses both genetic and shared environmental risks. We conducted a systematic review to estimate the impact of family history on the natural history of CRC and adherence to screening. We found high heterogeneity in family-history definitions, the most common definition being one or more first-degree relatives. The prevalence of family history may be lower than the commonly cited 10%, and confirms evidence for increasing levels of risk associated with increasing family-history burden. There is evidence for higher prevalence of adenomas and of multiple adenomas in people with family history of CRC but no evidence for differential adenoma location or adenoma progression by family history. Limited data regarding the natural history of CRC by family history suggest a differential age or stage at cancer diagnosis and mixed evidence with respect to tumor location. Adherence to recommended colonoscopy screening was higher in people with a family history of CRC. Stratification based on polygenic and/or multifactorial risk assessment may mature to the point of displacing family history-based approaches, but for the foreseeable future, family history may remain a valuable clinical tool for identifying individuals at increased risk for CRC.

  13. Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection

    Directory of Open Access Journals (Sweden)

    Hashishe Mervat M

    2010-06-01

    Full Text Available Abstract Background Breast cancer is one of the most common diseases affecting women. Inherited susceptibility genes, BRCA1 and BRCA2, are considered in breast, ovarian and other common cancers etiology. BRCA1 and BRCA2 genes have been identified that confer a high degree of breast cancer risk. Objective Our study was performed to identify germline mutations in some exons of BRCA1 and BRCA2 genes for the early detection of presymptomatic breast cancer in females. Methods This study was applied on Egyptian healthy females who first degree relatives to those, with or without a family history, infected with breast cancer. Sixty breast cancer patients, derived from 60 families, were selected for molecular genetic testing of BRCA1 and BRCA2 genes. The study also included 120 healthy first degree female relatives of the patients, either sisters and/or daughters, for early detection of presymptomatic breast cancer mutation carriers. Genomic DNA was extracted from peripheral blood lymphocytes of all the studied subjects. Universal primers were used to amplify four regions of the BRCA1 gene (exons 2,8,13 and 22 and one region (exon 9 of BRCA2 gene using specific PCR. The polymerase chain reaction was carried out. Single strand conformation polymorphism assay and heteroduplex analysis were used to screen for mutations in the studied exons. In addition, DNA sequencing of the normal and mutated exons were performed. Results Mutations in both BRCA1 and BRCA2 genes were detected in 86.7% of the families. Current study indicates that 60% of these families were attributable to BRCA1 mutations, while 26.7% of them were attributable to BRCA2 mutations. Results showed that four mutations were detected in the BRCA1 gene, while one mutation was detected in the BRCA2 gene. Asymptomatic relatives, 80(67% out of total 120, were mutation carriers. Conclusions BRCA1 and BRCA2 genes mutations are responsible for a significant proportion of breast cancer. BRCA mutations

  14. Optimizing Social Network Support to Families Living With Parental Cancer: Research Protocol for the Cancer-PEPSONE Study.

    Science.gov (United States)

    Hauken, May Aasebø; Senneseth, Mette; Dyregrov, Atle; Dyregrov, Kari

    2015-12-30

    Parental cancer can have a significant impact on a family's psychosocial functioning and quality of life, whereby the children's situation is strongly related to parental coping and capacity. Such parents ask for more help in order to increase their care capacity, while the network is often insecure about how to help and thereby withdraw. They ask for guidance and training to be able to support cancer families. Based on this, the Cancer- Psycho-Educational Program for the SOcial NEtwork (PEPSONE) study was developed. To optimize social network support through a psycho-educational program for families living with parental cancer and their network members in order to increase parental capacity and thereby secure the children's safety and quality of life. A randomized controlled trial (RCT) in which families (N=60) living with parental cancer will be randomized to either an intervention group or a control group. The intervention will last for 3 hours and includes (1) introduction, (2) psycho-education (living with cancer in the family and the importance of social network support), and (3) discussion (this family's need for social support). Primary outcomes are social support, mental health, and quality of life, and secondary outcomes are resilience and parental capacity. Data will be collected by a set of questionnaires distributed to healthy parents (N=60) living with a partner with cancer, one child in the family between 8-18 years of age (N=60), and network members (N=210) of the intervention families at inclusion, and after 3 and 6 months. Comparing differences between the intervention group (n=30) and the control group (n=30), the power analysis shows that Peducational program for families living with parental cancer and their network members, as well as provide an evidence basis for social network support. The results may provide important knowledge that is useful for clinical practice and further research. The trial is reported according to the CONSORT

  15. Population screening for hereditary and familial cancer syndromes in Valka district of Latvia

    Directory of Open Access Journals (Sweden)

    Vanags Andrejs

    2010-10-01

    Full Text Available Abstract Background The growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk. The aim of this study was to test the outcome of population screening in the scientific and practical evaluation of hereditary cancer. Methods Population screening for hereditary cancer was carried out retrospectively in a geographic area of Latvia. Family cancer histories were collected from 18642 adults representing 76.6% of the population of this area. Hereditary cancer syndromes were diagnosed clinically. Molecular testing for BRCA1 founder mutations 300 T/G, 4153delA and 5382insC was conducted in 588 persons who reported at least one case of breast or ovary cancer among blood relatives. Results Clinically, 74 (0.40%; 95% confidence interval (CI: 0.32 - 0.50% high-risk and 548 (2.94%, 95% CI: 2.71 - 3.19 moderate-risk hereditary cancer syndromes were detected covering wide cancer spectrum. All syndromes were characterised by high cancer frequency among blood relatives ranging 8.6 - 46.2% in contrast to spouse correlation of 2.5 - 3.6%. The mean age of cancer onset ranged 38.0 - 72.0 years in different syndromes. The BRCA1 gene mutations were identified in 10 (1.7%; 95% CI: 0.9 - 3.1% probands. Families with established BRCA1 gene founder mutations were identified with the frequency 1:2663 clinically screened persons. Conclusions Population screening is a useful practical tool for the identification of persons belonging to families with high frequency of malignant tumours. The whole hereditary and familial cancer spectrum along with the age structure was identified adjusting follow-up guidelines. Another benefit of the population screening is the possibility to identify oncologically healthy persons belonging to hereditary and familial cancer families so that appropriate surveillance can be offered. Clinical diagnostics is appropriate for population

  16. Nutrition education of the cancer patient and family. Myths and realities.

    Science.gov (United States)

    Dwyer, J

    1986-10-15

    Common myths about nutrition education and care of cancer patients are debunked and realities are discussed. First, frequently held misconceptions of nonspecialized health professionals are considered. These include the myths that diet change in the population will be rapid now that dietary guidelines to prevent cancer have been issued; nutrition education is best relegated to the dietitian for cancer patients; patients do not need nutritional advice until treatment is actually in progress, and then only rarely while they are hospitalized; nutrition education needs taper off once consolidation or intermittent therapy begins and cease entirely with survival of 5 or more years; and nutrition education of the family usually can be ignored. Next, common myths which many patients and their families subscribe to are discussed. These myths include the following: by following the cancer prevention dietary guidelines, protection against cancer is guaranteed; if only the victim had eaten differently, the cancer never would have developed; cancer prevention dietary guidelines also should be followed in the nutritional support of cancer patients; cancer patients can rely on their appetites and hidden hungers to stay in good nutritional balance; special diets can cure cancer; all cancer anorexia can now be reversed by following proper diet; children who have cancer should neither be fed nor can they eat diets similar to those fed to other children at that age; special nutritional support measures such as tube feeding and total parenteral nutrition are only useful for those younger than 65 years; and there is no sense in paying attention to the nutrition of cancer patients in hospices because they are going to die anyway. It is concluded that nutrition education can enhance quality of life, for the patient and his family, throughout his illness and after his recovery.

  17. Identification and management of women with a family history of breast cancer: Practical guide for clinicians.

    Science.gov (United States)

    Heisey, Ruth; Carroll, June C

    2016-10-01

    To summarize the best evidence on strategies to identify and manage women with a family history of breast cancer. A PubMed search was conducted using the search terms breast cancer, guidelines, risk, family history, management, and magnetic resonance imaging screening from 2000 to 2016. Most evidence is level II. Taking a good family history is essential when assessing breast cancer risk in order to identify women suitable for referral to a genetic counselor for possible genetic testing. Offering risk-reducing surgery (bilateral prophylactic mastectomy, bilateral salpingo-oophorectomy) to women with BRCA genetic mutations can save lives. All women with a family history of breast cancer should be encouraged to stay active and limit alcohol intake to less than 1 drink per day; some will qualify for chemoprevention. Women with a 20% to 25% or greater lifetime risk of breast cancer should be offered enhanced screening with annual magnetic resonance imaging in addition to mammography. Healthy living and chemoprevention (for suitable women) could reduce breast cancer incidence; enhanced screening could result in earlier detection. Referring women who carry BRCA mutations for risk-reducing surgery will save lives. Copyright© the College of Family Physicians of Canada.

  18. Health care professionals' perspectives of the experiences of family caregivers during in-patient cancer care.

    Science.gov (United States)

    Ekstedt, Mirjam; Stenberg, Una; Olsson, Mariann; Ruland, Cornelia M

    2014-11-01

    Being a family member of a patient who is being treated in an acute care setting for cancer often involves a number of challenges. Our study describes Norwegian cancer care health professionals' perceptions of family members who served as family caregivers (FCs) and their need for support during the in-hospital cancer treatment of their ill family member. Focus group discussions were conducted with a multidisciplinary team of 24 experienced social workers, physicians, and nurses who were closely involved in the patients' in-hospital cancer treatment and care. Drawing on qualitative hermeneutic analysis, four main themes describe health professionals' perceptions of FCs during the patient's in-hospital cancer care: an asset and additional burden, infinitely strong and struggling with helplessness, being an outsider in the center of care, and being in different temporalities. We conclude that it is a challenge for health care professionals to support the family and create room for FC's needs in acute cancer care. System changes are needed in health care, so that the patient/FC dyad is viewed as a unit of care in a dual process of caregiving, which would enable FCs to be given space and inclusion in care, with their own needs simultaneously considered alongside those of the patient. © The Author(s) 2014.

  19. Family history of cancer in benign brain tumor subtypes versus gliomas

    Directory of Open Access Journals (Sweden)

    Quinn eOstrom

    2012-02-01

    Full Text Available Purpose: Family history is associated with gliomas, but this association has not ben established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study (OBTS. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%, 78 meningioma (65%, 49 pituitary adenoma (73.1% and 152 glioma patients (58.2%. The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs and 95% confidence intervals (95% CI. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusions: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases.

  20. Family History of Cancer in Benign Brain Tumor Subtypes Versus Gliomas

    Science.gov (United States)

    Ostrom, Quinn T.; McCulloh, Christopher; Chen, Yanwen; Devine, Karen; Wolinsky, Yingli; Davitkov, Perica; Robbins, Sarah; Cherukuri, Rajesh; Patel, Ashokkumar; Gupta, Rajnish; Cohen, Mark; Barrios, Jaime Vengoechea; Brewer, Cathy; Schilero, Cathy; Smolenski, Kathy; McGraw, Mary; Denk, Barbara; Naska, Theresa; Laube, Frances; Steele, Ruth; Greene, Dale; Kastl, Alison; Bell, Susan; Aziz, Dina; Chiocca, E. A.; McPherson, Christopher; Warnick, Ronald; Barnett, Gene H.; Sloan, Andrew E.; Barnholtz-Sloan, Jill S.

    2012-01-01

    Purpose: Family history is associated with gliomas, but this association has not been established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%), 78 meningioma (65%), 49 pituitary adenoma (73.1%), and 152 glioma patients (58.2%). The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs) and 95% confidence intervals. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusion: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases. PMID:22649779

  1. Breaking Bad News: Patient Preferences and the Role of Family Members when Delivering a Cancer Diagnosis.

    Science.gov (United States)

    Rao, Abha; Ekstrand, Maria; Heylen, Elsa; Raju, Girish; Shet, Arun

    2016-01-01

    Western physicians tend to favour complete disclosure of a cancer diagnosis to the patient, while non-Western physicians tend to limit disclosure and include families in the process; the latter approach is prevalent in clinical oncology practice in India. Few studies, however, have examined patient preferences with respect to disclosure or the role of family members in the process. Structured interviews were conducted with patients (N=127) in the medical oncology clinic of a tertiary referral hospital in Bangalore, India. Patients ranged in age from 18-88 (M=52) and were mostly male (59%). Most patients (72%) wanted disclosure of the diagnosis cancer, a preference significantly associated with higher education and English proficiency. A majority wanted their families to be involved in the process. Patients who had wanted and not wanted disclosure differed with respect to their preferences regarding the particulars of disclosure (timing, approach, individuals involved, role of family members). Almost all patients wanted more information concerning their condition, about immediate medical issues such as treatments or side effects, rather than long-term or non-medical issues. While most cancer patients wanted disclosure of their disease, a smaller group wished that their cancer diagnosis had not been disclosed to them. Regardless of this difference in desire for disclosure, both groups sought similar specific information regarding their cancer and largely favoured involvement of close family in decision making. Additional studies evaluating the influence of factors such as disease stage or family relationships could help guide physicians when breaking bad news.

  2. Low level of consanguinity in moroccan families at high risk of breast cancer.

    Science.gov (United States)

    Elalaoui, Siham Chafai; Jaouad, Imane Cherkaoui; Laarabi, Fatima Zahra; Elgueddari, Brahim El Khalil

    2013-01-01

    Breast cancer is worldwide the most common cancer in women and is a major public health problem. Genes with high or low penetrance are now clearly implicated in the onset of breast cancer, mostly the BRCA genes. All women in families at high risk of breast cancer do not develop tumours, even when they carry the familial mutation, suggesting the existence of genetic and environmental protective factors. Several studies have shown that consanguinity is linked to a decreased or an increased risk of breast cancer, but to the best of our knowledge, there is no study concerning the association between consanguinity and the occurrence of tumours in women with high risk of breast cancer. The objective of this study was to examine whether parental consanguinity in families with genetic predisposition to breast cancer affect the risk of siblings for having this cancer. Over a six-year period, 72 different patients with a histological diagnosis of breast or ovarian cancer from 42 families were recruited for genetic counselling to the Department of Medical Genetics, Rabat. Consanguinity rate was determined in cases and compared to the consanguinity rate in the Moroccan general population. Consanguinity rates were 9.72% in patients and 15.3% in controls, but the difference was statistically not significant (p>0.001) and the mean coefficient of consanguinity was lower in breast cancer patients (0.0034) than in controls (0.0065). Despite the relatively small sample size of the current study, our results suggest that parental consanguinity in Moroccan women might not be associated with an altered risk of breast cancer. Large scale studies should be carried out to confirm our results and to develop public health programs.

  3. Risk of second breast cancer according to estrogen receptor status and family history.

    Science.gov (United States)

    Bouchardy, Christine; Benhamou, Simone; Fioretta, Gérald; Verkooijen, Helena M; Chappuis, Pierre O; Neyroud-Caspar, Isabelle; Castiglione, Monica; Vinh-Hung, Vincent; Vlastos, Georges; Rapiti, Elisabetta

    2011-05-01

    A recent study reported an increased risk of contralateral estrogen-negative breast cancer after a first primary estrogen-negative breast cancer. Our study aims to confirm this result and to evaluate how the risk of second breast cancer occurrence is affected by family history of breast cancer and anti-estrogen treatment. We included all 4,152 women diagnosed with breast cancer between 1995 and 2007, using data from the population-based Geneva Cancer Registry. We compared the incidence of second breast cancer among patients according to estrogen receptor (ER) status with that expected in the general population by age-period Standardized Incidence Ratios (SIRs). Among the cohort, 63 women developed second breast cancer. Patients with ER-positive first tumors had a decreased risk of second breast cancer occurrence (SIR: 0.67, 95% CI: 0.48-0.90), whereas patients with ER-negative primary tumors had an increased risk (SIR: 1.98, 95% CI: 1.19-3.09) limited to ER-negative second tumors (SIR: 7.94, 95% CI: 3.81-14.60). Patients with positive family history had a tenfold (SIR: 9.74, 95% CI: 3.57-21.12) higher risk of ER-negative second tumor which increased to nearly 50-fold (SIR: 46.18, 95% CI: 12.58-118.22) when the first tumor was ER-negative. Treatment with anti-estrogen decreased the risk of second ER-positive tumors but not ER-negative tumors. The risk of second ER-negative breast cancer is very high after a first ER-negative tumor, in particular among women with strong family history. Surveillance and prevention of second cancer occurrence should consider both ER status of the first tumor and family history.

  4. Mammography decision making in older women with a breast cancer family history.

    Science.gov (United States)

    Greco, Karen E; Nail, Lillian M; Kendall, Judy; Cartwright, Juliana; Messecar, Deborah C

    2010-09-01

    This study's purpose is to describe and explain how women 55 years of age and older with a family history of breast cancer make screening mammography decisions. A qualitative design based on grounded theory. This purposeful sample consisted of 23 women 55 years of age or older with one more first-degree relatives diagnosed with breast cancer. Open-ended interviews were conducted with 23 women 55 years of age and older with a family history of breast cancer using a semistructured interview guide. Transcribed interview data were analyzed using constant comparative analysis to identify the conditions, actions, and consequences associated with participant's screening mammography decision making. Women reported becoming aware of their breast cancer risk usually due to a triggering event such as having a family member diagnosed with breast cancer, resulting in women "guarding against cancer." Women's actions included having mammograms, getting health check-ups, having healthy behaviors, and being optimistic. Most women reported extraordinary faith in mammography, often ignoring negative mammogram information. A negative mammogram gave women peace of mind and assurance that breast cancer was not present. Being called back for additional mammograms caused worry, especially with delayed results. The "guarding against cancer" theory needs to be tested in other at-risk populations and ultimately used to test strategies that promote cancer screening decision making and the adoption of screening behaviors in those at increased risk for developing cancer. Women 55 years of age and older with a breast cancer family history need timely mammogram results, mammography reminders, and psychosocial support when undergoing a mammography recall or other follow-up tests.

  5. [Positive family history of colorectal cancer--use of a questionnaire].

    Science.gov (United States)

    Katalinic, A; Raspe, H; Waldmann, A

    2009-11-01

    The overall aim of the present work was to estimate the potential of early detection of colorectal cancer in persons with familial or hereditary risk. In this paper we present projections on how many persons in the age groups 30 - 49 and 30 - 54 years, respectively, would be classified as being at familial or hereditary risk when a questionnaire distributed by the "Netzwerk gegen Darmkrebs e. V." (network against colon cancer) is used for identification. Based on the results of a systematic literature search on the validity of questionnaires, the estimated prevalence of familial and hereditary disposition for colorectal cancer as well as actual German tumour incidence data projections were calculated. Given a 10 % prevalence of persons with a familial risk in the German general population and a maximum knowledge of all tumour cases in kindred, a total of 5.7 % of all Germans in the age group 30 - 49 years would be classified as familial risk persons (7.2 % in the age group 30 - 54 years). Taking familial and hereditary risks into account 6.7 % (8.2 %) will have a positive questionnaire result. If the questionnaire is used on a population-based level and the participation rate is 35 %, approximately 542 000 persons in the age group 30 - 49 years (816 000 in the age group 30 - 54 years) will be classified as having a familial or hereditary risk for colorectal cancer.

  6. [Family Focused Grief Therapy - A Suitable Model for the Palliative Care of Cancer Patients and their Families?].

    Science.gov (United States)

    Weißflog, Gregor; Mehnert, Anja

    2015-11-01

    Loss is a universal human experience. Within the context of cancer and especially in the palliative care of oncological patients, anticipated and real losses and their management play a crucial role. A high proportion of patients and family members develop a treatment requiring psychiatric comorbidity (for both groups between 20 and 30%, mainly adjustment and anxiety disorders and depression). Approximately 15% of the bereaved persons suffer from complicated grief after the death of their relative. Within the early palliative care, the implementation of the Family Focused Grief Therapy (FFGT) has the potential to reduce psychological distress incl. mental comorbidities in patients and their relatives. Simultaneously, the incidence of the prolonged grief disorder in bereaved persons could be diminished (after the death of their relative). Thus, the FFGT can make a substantial contribution in order to improve the palliative care of cancer patients and their bereaved persons. © Georg Thieme Verlag KG Stuttgart · New York.

  7. Diagnostic accuracy of faecal immunochemical test for screening individuals with a family history of colorectal cancer.

    Science.gov (United States)

    Ng, S C; Ching, J Y L; Chan, V; Wong, M C S; Suen, B Y; Hirai, H W; Lam, T Y T; Lau, J Y W; Ng, S S M; Wu, J C Y; Chan, F K L; Sung, J J Y

    2013-10-01

    The role of a faecal immunochemical test (FIT) in screening individuals with a positive family history of colorectal cancer (CRC) is not clear. To assess the diagnostic accuracy of FIT using colonoscopy findings as the gold standard in identifying colorectal neoplasms. We analysed data from 4539 asymptomatic subjects aged 50-70 years who had both colonoscopy and FIT (Hemosure; W.H.P.M., Inc, El Monte, CA, USA) at our bowel cancer screening centre between 2008 and 2012. A total of 572 subjects (12.6%) had a family history of CRC. Our primary outcome was the sensitivity of FIT in detecting advanced neoplasms and cancers in subjects with a family history of CRC. A family history of CRC was defined as any first-degree relative with a history of CRC. Among 572 subjects with a family history of CRC, adenoma, advanced neoplasm and cancer were found at screening colonoscopy in 29.4%, 6.5% and 0.7% individuals, respectively. The sensitivity of FIT in detecting adenoma, advanced neoplasm and cancer was 9.5% [95% confidence interval (CI), 5.7-15.3], 35.1% (95% CI, 20.7-52.6) and 25.0% (95% CI, 1.3-78.1), respectively. Among FIT-negative subjects who have a family history of CRC, adenoma was found in 152 (29.6%), advanced neoplasm in 24 (4.7%) and cancer in 3 (0.6%) individuals. Compared with colonoscopy, FIT is more likely to miss advanced neoplasms or cancers in individuals with a family history of CRC. © 2013 John Wiley & Sons Ltd.

  8. Cancer and the family: strategies to assist spouses.

    Science.gov (United States)

    Northouse, L L; Peters-Golden, H

    1993-05-01

    Research that has been conducted with spouses of cancer patients documents the nature of their stress, the duration of their stress, and the concerns that they confront over the course of the illness. A variety of intervention strategies have been used to assist spouses in dealing with the stressful effects of cancer. Two major categories of intervention strategies are providing information and offering support.

  9. Breast cancer in high-risk Afrikaner families: Is BRCAfounder ...

    African Journals Online (AJOL)

    http://www.cansa.org.za/south-african-cancer-statistics/ (accessed 8 October 2015). 2. Diamond TM, Sutphen R, Tabano M, Fiorica J. Inherited susceptibility to breast and ovarian cancer. Curr Opin Obstet Gynecol 1998;10(1):3-8. 3. Botha MC, Beighton P. Inherited disorders in the Afrikaner population of southern Africa.

  10. Health Information Needs of Childhood Cancer Survivors and Their Family

    NARCIS (Netherlands)

    Knijnenburg, Sebastiaan L.; Kremer, Leontien C.; van den Bos, Cor; Braam, Katja I.; Jaspers, Monique W. M.

    2010-01-01

    Background. Knowledge about past disease, treatment, and possible late effects has previously been shown to be low in survivors of childhood cancer and their relatives. This study investigated the information needs of childhood cancer survivors and their parents and explored possible determinants

  11. Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

    NARCIS (Netherlands)

    Kluijt, I.; Sijmons, R.H.; Hoogerbrugge-van der Linden, N.; Plukker, J.T.; Jong, D.J. de; Krieken, J.H. van; Hillegersberg, R. van; Ligtenberg, M.J.L.; Bleiker, E.; Cats, A.

    2012-01-01

    Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime risk of >80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting

  12. Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

    NARCIS (Netherlands)

    Kluijt, Irma; Sijmons, Rolf H.; Hoogerbrugge, Nicoline; Plukker, John T.; de Jong, Daphne; van Krieken, J. Han; van Hillegersberg, Richard; Ligtenberg, Marjolijn; Bleiker, Eveline; Cats, Anemieke; Ausems, M. G. E. M.; Hoogerbrugge, N.; Kluijt, I.; Sijmons, R. H.; Cats, A.; Wagner, A.; Dekker, E.; Tytgat, Kristien; Kleibeuker, J. H.; Vasen, H. F. A.; Plukker, J. T.; Ligtenberg, M.; van Hillegersberg, R.; van Grieken, N. C. T.; de Jong, D.; van Krieken, J. H.; Bleiker, E.

    2012-01-01

    Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime risk of >80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting early

  13. [Familial gastric cancer: diagnosis, treatment and periodic surveillance

    NARCIS (Netherlands)

    Kluijt, I.; Sijmons, R.H.; Hoogerbrugge, N.; Vasen, H.F.; Cats, A.

    2011-01-01

    The only known genetic causes of hereditary diffuse gastric cancer (HDGC) are germline mutations in the CDH1 gene.- CDH1 mutation carriers have a lifetime risk of 70-80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting early stages of HDGC,

  14. Familial gastric cancer : guidelines for diagnosis, treatment and periodic surveillance

    NARCIS (Netherlands)

    Kluijt, Irma; Sijmons, Rolf H.; Hoogerbrugge, Nicoline; Plukker, John T.; de Jong, Daphne; van Krieken, J. Han; van Hillegersberg, Richard; Ligtenberg, Marjolijn; Bleiker, Eveline; Cats, Anemieke

    Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime risk of > 80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting

  15. Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases

    Science.gov (United States)

    Stavropoulou, Alexandra V.; Fostira, Florentia; Pertesi, Maroulio; Tsitlaidou, Marianthi; Voutsinas, Gerassimos E.; Triantafyllidou, Olga; Bamias, Aristotelis; Dimopoulos, Meletios A.; Timotheadou, Eleni; Pectasides, Dimitrios; Christodoulou, Christos; Klouvas, George; Papadimitriou, Christos; Makatsoris, Thomas; Pentheroudakis, George; Aravantinos, Gerasimos; Karydakis, Vassilis; Yannoukakos, Drakoulis; Fountzilas, George; Konstantopoulou, Irene

    2013-01-01

    Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23–24 and exon 24). In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6%) of familial cancer cases and in 27/592 (4.6%) of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%). The majority of BRCA1 carriers (71.2%) presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer. PMID:23536787

  16. The perceived cancer-related financial hardship among patients and their families: a systematic review.

    Science.gov (United States)

    Azzani, Meram; Roslani, April Camilla; Su, Tin Tin

    2015-03-01

    The escalating health-care spending for cancer management has caused cancer patients to struggle further as a result of financial burden. This systematic review was carried out to investigate the prevalence of perceived financial hardship and associated factors among cancer patients and their families. A systematic search for studies concerning the perception of financial burden among cancer patients and their families was conducted. Several electronic resources such as Medline, Elsevier (Science Direct), Web of Science, Embase, PubMed, CINAHL and Scopus (SciVerse) were searched. Additionally, manual search through indices citation was also thoroughly utilized. The main outcome of interest was the prevalence of perceived financial hardship among cancer patients and their families. Studies reported only the cost of cancer treatment and qualitative studies were excluded. Our search was limited to articles that were published from 2003 to 2013. Ten studies were included in this review and with a majority originating from high-income countries. The prevalence of the financial burden perception was reported between 14.8 and 78.8 %. The most frequent and significant risk factor reported associated with the perception of financial difficulty was the households with low income. Discontinuation of treatment and poverty were conversely the important consequences of financial burden in cancer patients and their families. Evidently, cancer is a long-term illness that requires a high financial cost, and a significant number of cancer patients and families struggle with financial difficulty. Identifying such groups with a high risk of facing financial difficulty is a crucial measure to ensure safety nets are readily available for these targeted population.

  17. Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

    Directory of Open Access Journals (Sweden)

    Alexandra V Stavropoulou

    Full Text Available Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23-24 and exon 24. In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6% of familial cancer cases and in 27/592 (4.6% of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%. The majority of BRCA1 carriers (71.2% presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer.

  18. SOX15 and other SOX family members are important mediators of tumorigenesis in multiple cancer types.

    Science.gov (United States)

    Thu, Kelsie L; Becker-Santos, Daiana D; Radulovich, Nikolina; Pikor, Larissa A; Lam, Wan L; Tsao, Ming-Sound

    2014-01-01

    SOX genes are transcription factors with important roles in embryonic development and carcinogenesis. The SOX family of 20 genes is responsible for regulating lineage and tissue specific gene expression patterns, controlling numerous developmental processes including cell differentiation, sex determination, and organogenesis. As is the case with many genes involved in regulating development, SOX genes are frequently deregulated in cancer. In this perspective we provide a brief overview of how SOX proteins can promote or suppress cancer growth. We also present a pan-cancer analysis of aberrant SOX gene expression and highlight potential molecular mechanisms responsible for their disruption in cancer. Our analyses indicate the prominence of SOX deregulation in different cancer types and reveal potential roles for SOX genes not previously described in cancer. Finally, we summarize our recent identification of SOX15 as a candidate tumor suppressor in pancreatic cancer and propose several research avenues to pursue to further delineate the emerging role of SOX15 in development and carcinogenesis.

  19. Quality of life of women with recurrent breast cancer and their family members.

    Science.gov (United States)

    Northouse, Laurel L; Mood, Darlene; Kershaw, Trace; Schafenacker, Ann; Mellon, Suzanne; Walker, Julie; Galvin, Elizabeth; Decker, Veronica

    2002-10-01

    Little information is available about the effects of recurrent breast cancer on the quality of life of women and their family members. The present study assessed patients' and family members' quality of life within 1 month after recurrence, and effects of multiple factors on quality-of-life scores. Patient/family member dyads (N = 189) participated in this study. A stress-appraisal model guided selection of person factors, social/family factors, illness-related factors, appraisal factors, and quality of life, measured with psychometrically sound instruments. Quality of life was measured with both generic (Medical Outcomes Study SF-36) and cancer-specific (Functional Assessment of Cancer Therapy) scales. Patients reported significant impairments in physical, functional, and emotional well-being. Family members reported significant impairments in their own emotional well-being. Structural equation modeling revealed that self-efficacy, social support, and family hardiness had positive effects on quality of life, whereas symptom distress, concerns, hopelessness, and negative appraisal of illness or caregiving had detrimental effects. Study variables accounted for a sizable amount of variance in patients' and family members' physical and mental dimensions of quality of life (72% to 81%). Contrary to findings observed in studies of newly diagnosed breast cancer patients and spouses, little relationship was found between recurrent patients' and family members' quality of life. Women with recurrent breast cancer are in need of programs to assist them with the severe effects of the disease on their quality of life. Programs need to include family members to help counteract the negative effects of the recurrent disease on their mental health, and to enable them to continue as effective caregivers.

  20. Prostate cancer risk prediction based on complete prostate cancer family history.

    Science.gov (United States)

    Albright, Frederick; Stephenson, Robert A; Agarwal, Neeraj; Teerlink, Craig C; Lowrance, William T; Farnham, James M; Albright, Lisa A Cannon

    2015-03-01

    Prostate cancer (PC) relative risks (RRs) are typically estimated based on status of close relatives or presence of any affected relatives. This study provides RR estimates using extensive and specific PC family history. A retrospective population-based study was undertaken to estimate RRs for PC based on complete family history of PC. A total of 635,443 males, all with ancestral genealogy data, were analyzed. RRs for PC were determined based upon PC rates estimated from males with no PC family history (without PC in first, second, or third degree relatives). RRs were determined for a variety of constellations, for example, number of first through third degree relatives; named (grandfather, father, uncle, cousins, brothers); maternal, paternal relationships, and age of onset. In the 635,443 males analyzed, 18,105 had PC. First-degree RRs ranged from 2.46 (=1 first-degree relative affected, CI = 2.39-2.53) to 7.65 (=4 first-degree relatives affected, CI = 6.28-9.23). Second-degree RRs for probands with 0 affected first-degree relatives ranged from 1.51 (≥1 second-degree relative affected, CI = 1.47-1.56) to 3.09 (≥5 second-degree relatives affected, CI = 2.32-4.03). Third-degree RRs with 0 affected first- and 0 affected second-degree relatives ranged from 1.15 (≥1 affected third-degree relative, CI = 1.12-1.19) to 1.50 (≥5 affected third-degree relatives, CI = 1.35-1.66). RRs based on age at diagnosis were higher for earlier age at diagnoses; for example, RR = 5.54 for ≥1 first-degree relative diagnosed before age 50 years (CI = 1.12-1.19) and RR = 1.78 for >1 second-degree relative diagnosed before age 50 years, CI = 1.33, 2.33. RRs for equivalent maternal versus paternal family history were not significantly different. A more complete PC family history using close and distant relatives and age at diagnosis results in a wider range of estimates of individual RR that are potentially more accurate than RRs estimated

  1. Family history and breast cancer hormone receptor status in a Spanish cohort.

    Directory of Open Access Journals (Sweden)

    Xuejuan Jiang

    Full Text Available BACKGROUND: Breast cancer is a heterogenous disease that impacts racial/ethnic groups differently. Differences in genetic composition, lifestyles, reproductive factors, or environmental exposures may contribute to the differential presentation of breast cancer among Hispanic women. MATERIALS AND METHODS: A population-based study was conducted in the city of Santiago de Compostela, Spain. A total of 645 women diagnosed with operable invasive breast cancer between 1992 and 2005 participated in the study. Data on demographics, breast cancer risk factors, and clinico-pathological characteristics of the tumors were collected. Hormone receptor negative tumors were compared with hormone receptor postive tumors on their clinico-pathological characteristics as well as risk factor profiles. RESULTS: Among the 645 breast cancer patients, 78% were estrogen receptor-positive (ER+ or progesterone receptor-positive (PR+, and 22% were ER-&PR-. Women with a family history of breast cancer were more likely to have ER-&PR- tumors than women without a family history (Odds ratio, 1.43; 95% confidence interval, 0.91-2.26. This association was limited to cancers diagnosed before age 50 (Odds ratio, 2.79; 95% confidence interval, 1.34-5.81. CONCLUSIONS: An increased proportion of ER-&PR- breast cancer was observed among younger Spanish women with a family history of the disease.

  2. Recruiting families at risk for hereditary breast and ovarian cancer from a statewide cancer registry: a methodological study.

    Science.gov (United States)

    Katapodi, Maria C; Duquette, Deb; Yang, James J; Mendelsohn-Victor, Kari; Anderson, Beth; Nikolaidis, Christos; Mancewicz, Emily; Northouse, Laurel L; Duffy, Sonia; Ronis, David; Milliron, Kara J; Probst-Herbst, Nicole; Merajver, Sofia D; Janz, Nancy K; Copeland, Glenn; Roberts, Scott

    2017-03-01

    Cancer genetic services (counseling/testing) are recommended for women diagnosed with breast cancer younger than 45 years old (young breast cancer survivors-YBCS) and at-risk relatives. We present recruitment of YBCS, identification and recruitment of at-risk relatives, and YBCS willingness to contact their cancer-free, female relatives. A random sample of 3,000 YBCS, stratified by race (Black vs. White/Other), was identified through a population-based cancer registry and recruited in a randomized trial designed to increase use of cancer genetic services. Baseline demographic, clinical, and family characteristics, and variables associated with the Theory of Planned Behavior (TPB) were assessed as predictors of YBCS' willingness to contact at-risk relatives. The 883 YBCS (33.2% response rate; 40% Black) who returned a survey had 1,875 at-risk relatives and were willing to contact 1,360 (72.5%). From 853 invited at-risk relatives (up to two relatives per YBCS), 442 responded (51.6% response rate). YBCS with larger families, with a previous diagnosis of depression, and motivated to comply with recommendations from family members were likely to contact a greater number of relatives. Black YBCS were more likely to contact younger relatives and those living further than 50 miles compared to White/Other YBCS. It is feasible to recruit diverse families at risk for hereditary cancer from a population-based cancer registry. This recruitment approach can be used as a paradigm for harmonizing processes and increasing internal and external validity of large-scale public health genomic initiatives in the era of precision medicine.

  3. A family-based model to predict fear of recurrence for cancer survivors and their caregivers.

    Science.gov (United States)

    Mellon, Suzanne; Kershaw, Trace S; Northouse, Laurel L; Freeman-Gibb, Laurie

    2007-03-01

    Although fear of cancer recurrence is a great concern among survivors and their families, few studies have examined predictors of fear of recurrence. The purpose of this study was to identify factors associated with fear of recurrence in a population-based sample (N = 246) and determine if survivors and family caregivers influenced one another's fear of recurrence. A family framework guided the study and analyses included multilevel modeling using the Actor-Partner Interdependence Model. Results indicated that survivors and family caregivers influenced each other's fear of recurrence and that caregivers had significantly more fear of recurrence than survivors. More family stressors, less positive meaning of the illness, and age were related to elevated fear of cancer recurrence for both survivors and caregivers. Copyright 2006 John Wiley & Sons, Ltd.

  4. Risk of Thyroid Cancer in Euthyroid Asymptomatic Patients with Thyroid Nodules with an Emphasis on Family History of Thyroid Cancer

    OpenAIRE

    Hwang, Shin Hye; Kim, Eun-Kyung; Moon, Hee Jung; Yoon, Jung Hyun; Kwak, Jin Young

    2016-01-01

    Objective To determine the factors associated with thyroid cancer, focusing on first-degree family history and ultrasonography (US) features, in euthyroid asymptomatic patients with thyroid nodules. Materials and Methods This retrospective study included 1310 thyroid nodules of 1254 euthyroid asymptomatic patients who underwent US-guided fine-needle aspiration biopsy between November 2012 and August 2013. Nodule size and clinical risk factors?such as patient age, gender, first-degree family h...

  5. Quality of life among the family caregivers of patients with terminal cancer at home in Japan.

    Science.gov (United States)

    Ito, Eriko; Tadaka, Etsuko

    2017-10-01

    To identify the associated factors of quality of life (QOL) among the family caregivers of patients with terminal cancer at home. The design was an epidemiological study with self-administered questionnaires by mail. Date collection was carried out in the Tokyo Metropolitan, Tochigi, Ibaraki, Saitama, Chiba, Kanagawa, Nara, Hyogo, Kagawa, Ehime, and Saga prefectures in Japan. The participants who met the criteria for the present study were 262 family caregivers. Their QOL was assessed by the Japanese version of the Caregiver Quality of Life Index-Cancer. The potential factors that are associated with family caregivers' QOL included three factors: patient factors, including demographic characteristics and disease-related factors, family caregiver factors, including demographic characteristics, health conditions, and self-efficacy of family caregiving, and environmental factors, including instrumental, emotional, informational support, and satisfaction with the home care service. A multiple regression analysis was conducted in order to identify the associated factors with family caregivers' QOL. A total of 74 family caregivers participated in this study (response rate: 33.2%). The mean age of the family caregivers was 63.6 years and 79.7% was female. The multiple regression analysis indicated that depression, self-efficacy of family caregiving, the subcaregiver, and satisfaction with the home care service were associated with family caregivers' QOL. It is recommended that health practitioners should develop interventions for family caregivers in order to enhance the competence of the individual and home care system in order to achieve the sustainability of high-quality home care for patients with terminal cancer and the family caregivers' QOL. © 2017 Japan Academy of Nursing Science.

  6. The relationship between socio-demographic characteristics, family environment, and caregiver coping in families of children with cancer.

    Science.gov (United States)

    Gage-Bouchard, Elizabeth A; Devine, Katie A; Heckler, Charles E

    2013-12-01

    The factors that influence caregiver coping mechanism preferences after a child's diagnosis with cancer are not fully understood. This study examines the relationship between caregivers' socio-demographic characteristics and the coping strategies they use to adapt to childhood cancer. Sixty caregivers of pediatric cancer patients completed a socio-demographic questionnaire, the Family Environment Scale, and the COPE inventory. There were no significant differences in family environment by income or education. Caregiver educational attainment was positively associated with use of planning and active coping styles, while income was not associated with caregiver coping style. Mothers were more likely than fathers to use active coping, instrumental support, religious coping, and emotional support. Men with lower education engaged in greater substance use coping and lower planning. The findings show that educational attainment and caregiver gender influence caregiver coping styles following a pediatric cancer diagnosis and suggest that educational attainment rather than financial resources drive the association between SES and coping. Programs that address educational gaps and teach caregivers planning and active coping skills may be beneficial for parents with lower educational attainment, particularly men.

  7. An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations

    DEFF Research Database (Denmark)

    Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola

    2009-01-01

    the Amsterdam criteria for HNPCC and showed normal MMR function and/or lack of disease-predisposing MMR gene mutation. In total, 319 cancers from 212 parent-child pairs in 99 families were identified. A paired t-test and a bivariate statistical model were used to assess anticipation. Both methods demonstrated......Optimal prevention of hereditary cancer is central and requires initiation of surveillance programmes and/or prophylactic measures at a safe age. Anticipation, expressed as an earlier age at onset in successive generations, has been demonstrated in hereditary nonpolyposis colorectal cancer (HNPCC...... an effect from anticipation with cancer diagnosed mean 11.4 years (t-test, p

  8. An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations

    DEFF Research Database (Denmark)

    Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola

    2009-01-01

    Optimal prevention of hereditary cancer is central and requires initiation of surveillance programmes and/or prophylactic measures at a safe age. Anticipation, expressed as an earlier age at onset in successive generations, has been demonstrated in hereditary nonpolyposis colorectal cancer (HNPCC...... the Amsterdam criteria for HNPCC and showed normal MMR function and/or lack of disease-predisposing MMR gene mutation. In total, 319 cancers from 212 parent-child pairs in 99 families were identified. A paired t-test and a bivariate statistical model were used to assess anticipation. Both methods demonstrated...... an effect from anticipation with cancer diagnosed mean 11.4 years (t-test, p

  9. Risk Prediction for Breast, Endometrial, and Ovarian Cancer in White Women Aged 50 y or Older: Derivation and Validation from Population-Based Cohort Studies

    Science.gov (United States)

    Pfeiffer, Ruth M.; Park, Yikyung; Kreimer, Aimée R.; Lacey, James V.; Pee, David; Greenlee, Robert T.; Buys, Saundra S.; Hollenbeck, Albert; Rosner, Bernard; Gail, Mitchell H.; Hartge, Patricia

    2013-01-01

    Background Breast, endometrial, and ovarian cancers share some hormonal and epidemiologic risk factors. While several models predict absolute risk of breast cancer, there are few models for ovarian cancer in the general population, and none for endometrial cancer. Methods and Findings Using data on white, non-Hispanic women aged 50+ y from two large population-based cohorts (the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial [PLCO] and the National Institutes of Health–AARP Diet and Health Study [NIH-AARP]), we estimated relative and attributable risks and combined them with age-specific US-population incidence and competing mortality rates. All models included parity. The breast cancer model additionally included estrogen and progestin menopausal hormone therapy (MHT) use, other MHT use, age at first live birth, menopausal status, age at menopause, family history of breast or ovarian cancer, benign breast disease/biopsies, alcohol consumption, and body mass index (BMI); the endometrial model included menopausal status, age at menopause, BMI, smoking, oral contraceptive use, MHT use, and an interaction term between BMI and MHT use; the ovarian model included oral contraceptive use, MHT use, and family history or breast or ovarian cancer. In independent validation data (Nurses' Health Study cohort) the breast and ovarian cancer models were well calibrated; expected to observed cancer ratios were 1.00 (95% confidence interval [CI]: 0.96–1.04) for breast cancer and 1.08 (95% CI: 0.97–1.19) for ovarian cancer. The number of endometrial cancers was significantly overestimated, expected/observed = 1.20 (95% CI: 1.11–1.29). The areas under the receiver operating characteristic curves (AUCs; discriminatory power) were 0.58 (95% CI: 0.57–0.59), 0.59 (95% CI: 0.56–0.63), and 0.68 (95% CI: 0.66–0.70) for the breast, ovarian, and endometrial models, respectively. Conclusions These models predict absolute risks for breast, endometrial, and

  10. Risk prediction for breast, endometrial, and ovarian cancer in white women aged 50 y or older: derivation and validation from population-based cohort studies.

    Directory of Open Access Journals (Sweden)

    Ruth M Pfeiffer

    Full Text Available Breast, endometrial, and ovarian cancers share some hormonal and epidemiologic risk factors. While several models predict absolute risk of breast cancer, there are few models for ovarian cancer in the general population, and none for endometrial cancer.Using data on white, non-Hispanic women aged 50+ y from two large population-based cohorts (the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial [PLCO] and the National Institutes of Health-AARP Diet and Health Study [NIH-AARP], we estimated relative and attributable risks and combined them with age-specific US-population incidence and competing mortality rates. All models included parity. The breast cancer model additionally included estrogen and progestin menopausal hormone therapy (MHT use, other MHT use, age at first live birth, menopausal status, age at menopause, family history of breast or ovarian cancer, benign breast disease/biopsies, alcohol consumption, and body mass index (BMI; the endometrial model included menopausal status, age at menopause, BMI, smoking, oral contraceptive use, MHT use, and an interaction term between BMI and MHT use; the ovarian model included oral contraceptive use, MHT use, and family history or breast or ovarian cancer. In independent validation data (Nurses' Health Study cohort the breast and ovarian cancer models were well calibrated; expected to observed cancer ratios were 1.00 (95% confidence interval [CI]: 0.96-1.04 for breast cancer and 1.08 (95% CI: 0.97-1.19 for ovarian cancer. The number of endometrial cancers was significantly overestimated, expected/observed = 1.20 (95% CI: 1.11-1.29. The areas under the receiver operating characteristic curves (AUCs; discriminatory power were 0.58 (95% CI: 0.57-0.59, 0.59 (95% CI: 0.56-0.63, and 0.68 (95% CI: 0.66-0.70 for the breast, ovarian, and endometrial models, respectively.These models predict absolute risks for breast, endometrial, and ovarian cancers from easily obtainable risk factors and may

  11. Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases

    NARCIS (Netherlands)

    Adank, Muriel A.; Verhoef, Senno; Oldenburg, Rogier A.; Schmidt, Marjanka K.; Hooning, Maartje J.; Martens, John W. M.; Broeks, Annegien; Rookus, Matti; Waisfisz, Quinten; Witte, Birgit I.; Jonker, Marianne A.; Meijers-Heijboer, Hanne

    2013-01-01

    The CHEK2∗1100delC mutation confers a relative risk of two for breast cancer (BC) in the general population. This study aims to explore the excess cancer risk due to the CHEK2∗1100delC mutation within a familial non-BRCA1/2 breast cancer setting. Cancer incidences were compared between first degree

  12. Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs

    OpenAIRE

    Kukita, Yoji; OKAMI, JIRO; Yoneda-Kato, Noriko; Nakamae, Ikuko; Kawabata, Takeshi; Higashiyama, Masahiko; Kato, Junya; Kodama, Ken; Kato, Kikuya

    2016-01-01

    In clinical practice, there are a number of cancer patients with clear family histories, but the patients lack mutations in known familial cancer syndrome genes. Recent advances in genomic technologies have enhanced the possibility of identifying causative genes in such cases. Two siblings, an elder sister and a younger brother, were found to have multiple primary lung cancers at the age of 60. The former subsequently developed breast cancer and had a history of uterine myoma. The latter had ...

  13. Leveraging the Family Influence of Women in Prostate Cancer Efforts Targeting African American Men.

    Science.gov (United States)

    Okoro, O N; Rutherford, C A; Witherspoon, S F

    2017-08-25

    Incidence rate of prostate cancer among African American (AA) men is 1.6 times that in White men. Prevention efforts in this population have typically been through faith-based organizations and barber shops, with a few including significant others. Culturally, women are known to have a strong influence in the AA family. The current study assessed prostate cancer knowledge and explored perceptions on the roles of women in prostate cancer prevention. To assess prostate cancer knowledge, a 25-item questionnaire was administered to convenience samples of AA women (n = 297) and men (n = 199). Four focus groups were conducted to explore perceptions on the role of women in prostate cancer prevention. Men had a higher mean score (13.2; max of 25) than women (11.4) for knowledge of prostate cancer. For the men, higher knowledge scores were associated with having a family member diagnosed with prostate cancer and likelihood to engage healthcare providers about prostate cancer (p women engaging in the roles identified was limited knowledge. Including women in educational interventions may yield added benefits particularly in encouraging AA men to seek regular primary care. This affords men opportunities for dialog with healthcare providers about prostate cancer and informed decision making regarding screening.

  14. Epidemiology of Pancreatic Cancer and the Role of Family History

    OpenAIRE

    Olson, Sara H; Kurtz, Robert C.

    2012-01-01

    Pancreatic cancer is a lethal disease for which only a small number of risk factors have been identified. In addition to older age, male gender, and black race, risk factors include smoking, obesity, long-standing diabetes and pancreatitis, and heavy alcohol use; allergies such as hay fever are related to lowered risk. Several genetic syndromes increase risk of pancreatic cancer. Work on more common genetic variants promises to reveal more potentially important genetic associations.

  15. Family involvement for breast cancer decision making among Chinese-American women.

    Science.gov (United States)

    Lee, Shiuyu Katie C; Knobf, M Tish

    2016-12-01

    To describe family involvement in decision making for primary treatment in Chinese-American women with early-stage breast cancer. Qualitative data were collected in 2003 from semi-structured questions in interviews with a sample of Chinese-American (ChA) women with breast cancer, who were recruited from the metropolitan New York area. Responses to the questions were written in Chinese immediately during the interview and read back to the subject for accuracy and validation. Content analysis was used to inductively code and analyze the data to generate themes. The participants consisted of 123 ChA women with early stage breast cancer with a mean age of 48.7 years (±9.3) and who had lived in the United States a median of 13.6 years. Support and Caring was the major theme that described family involvement in the breast cancer decision-making process. Gathering Information, Being There, Navigating the Health Care System, Maintaining Family Life and Making the Decision described the aspects of family support in the process. The majority of women described the treatment decision making as a collaborative supportive process with the family, but limited English fluency, strong opinions, lack of a shared perspective, distant living proximity and competing work responsibilities of family members were stressful for the women and perceived as non-supportive. Family involvement in health care decision making is culturally embedded in Asian populations. Culturally sensitive patient and family consultation strategies are needed to assist informed treatment decision making in Chinese-American women diagnosed with breast cancer. Copyright © 2015 John Wiley & Sons, Ltd. Copyright © 2015 John Wiley & Sons, Ltd.

  16. Navigating cancer using online communities: a grounded theory of survivor and family experiences.

    Science.gov (United States)

    Harkin, Lydia Jo; Beaver, Kinta; Dey, Paola; Choong, Kartina

    2017-12-01

    People affected by cancer often have unmet emotional and social support needs. Online cancer communities are a convenient channel for connecting cancer survivors, allowing them to support one another. However, it is unclear whether online community use makes a meaningful contribution to cancer survivorship, as little previous research has examined the experience of using contemporary cancer communities. We aimed to explore the experiences of visitors to online cancer communities. Twenty-three in-depth interviews were conducted with online cancer community visitors, including cancer survivors (n = 18), family members (n = 2), and individuals who were both a survivor and family member (n = 3). Interviews were analysed using a grounded theory approach. A theory developed explaining how individuals 'navigated' the experience of cancer using online cancer communities. Online advice and information led participants on a 'journey to become informed'. Online friendships normalised survivorship and cast participants on a 'journey to recreate identity'. Participants navigated a 'journey through different worlds' as they discovered relevant and hidden communities. This theory highlights virtual paths people affected by cancer can take to self-manage their experience of the disease. Online community experiences can be improved by promoting online evaluation skills and signposting visitors to bereavement support. Cancer survivors can benefit through both lurking and posting in online communities. However, individuals risk becoming distressed when they befriend individuals who may soon die. Additionally, people affected by rarer cancers can struggle to find shared experiences online and may need to look elsewhere for support.

  17. Role of communication for pediatric cancer patients and their family

    OpenAIRE

    Rajesh Kumar Singh; Aditya Raj; Sujata Paschal; Shahab Hussain

    2015-01-01

    Background: Communication is a key component in medical practice. The area of pediatric palliative care is emotionally distressing for families and healthcare providers. Inadequate communication can increase the stress and lead to mistrust or miscommunication. Materials and Methods: Reviewing the literature on communication between physicians, patients, and their