WorldWideScience

Sample records for breast cancer families

  1. 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.

  2. 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...

  3. 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.

  4. 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

  5. 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.

  6. 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...

  7. [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.

  8. 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

  9. 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 ...

  10. 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…

  11. Ectopic breasts: familial functional axillary breasts and breast cancer arising in an axillary breast.

    Science.gov (United States)

    Osswald, Sandra S; Osswald, Michael B; Elston, Dirk M

    2011-06-01

    Supernumerary breasts and nipples are not uncommon and have familial and syndrome associations. Although usually of only cosmetic concern, hormonal changes and inflammatory or neoplastic conditions that affect primary breast tissue also may occur in areas of ectopic breast tissue. We describe cases of familial functional axillary breasts and primary carcinoma of the breast arising in ectopic axillary breast tissue.

  12. 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.

  13. 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 ...

  14. 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...

  15. 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.

  16. 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.

  17. Mammographic density and breast cancer risk in breast screening assessment cases and women with a family history of breast cancer.

    Science.gov (United States)

    Duffy, Stephen W; Morrish, Oliver W E; Allgood, Prue C; Black, Richard; Gillan, Maureen G C; Willsher, Paula; Cooke, Julie; Duncan, Karen A; Michell, Michael J; Dobson, Hilary M; Maroni, Roberta; Lim, Yit Y; Purushothaman, Hema N; Suaris, Tamara; Astley, Susan M; Young, Kenneth C; Tucker, Lorraine; Gilbert, Fiona J

    2018-01-01

    Mammographic density has been shown to be a strong independent predictor of breast cancer and a causative factor in reducing the sensitivity of mammography. There remain questions as to the use of mammographic density information in the context of screening and risk management, and of the association with cancer in populations known to be at increased risk of breast cancer. To assess the association of breast density with presence of cancer by measuring mammographic density visually as a percentage, and with two automated volumetric methods, Quantra™ and VolparaDensity™. The TOMosynthesis with digital MammographY (TOMMY) study of digital breast tomosynthesis in the Breast Screening Programme of the National Health Service (NHS) of the United Kingdom (UK) included 6020 breast screening assessment cases (of whom 1158 had breast cancer) and 1040 screened women with a family history of breast cancer (of whom two had breast cancer). We assessed the association of each measure with breast cancer risk in these populations at enhanced risk, using logistic regression adjusted for age and total breast volume as a surrogate for body mass index (BMI). All density measures showed a positive association with presence of cancer and all declined with age. The strongest effect was seen with Volpara absolute density, with a significant 3% (95% CI 1-5%) increase in risk per 10 cm 3 of dense tissue. The effect of Volpara volumetric density on risk was stronger for large and grade 3 tumours. Automated absolute breast density is a predictor of breast cancer risk in populations at enhanced risk due to either positive mammographic findings or family history. In the screening context, density could be a trigger for more intensive imaging. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  18. 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

  19. 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...

  20. 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...

  1. 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.

  2. 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.

  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. Breast Cancer

    Science.gov (United States)

    Breast cancer affects one in eight women during their lives. No one knows why some women get breast cancer, but there are many risk factors. Risks that ... who have family members with breast or ovarian cancer may wish to be tested for the genes. ...

  5. 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.

  6. 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.

  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. 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.

  9. 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.

  10. 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

  11. Breast-conservation therapy in early-stage breast cancer patients with a positive family history.

    Science.gov (United States)

    Vlastos, Georges; Mirza, Nadeem Q; Meric, Funda; Hunt, Kelly K; Mirza, Attiqa N; Newman, Lisa A; Ames, Frederick C; Kuerer, Henry M; Ross, Merrick I; Feig, Barry; Babiera, Gildy; Buchholz, Thomas A; Hortobagyi, Gabriel N; Singletary, S Eva

    2002-11-01

    Our goal was to evaluate the role of breast-conservation therapy in early-stage breast cancer patients with a family history (FH) of breast cancer. Between 1970 and 1994, 1324 female patients with breast cancer were treated with breast-conservation therapy at our institution. From these, we identified 985 patients with stage 0-II breast cancer and who had available information on FH status. FH was considered positive in any patient who had a relative who had been previously diagnosed with breast cancer. Disease-specific survival was calculated from the date of initial diagnosis using the Kaplan-Meier method. The stage distribution for the 985 patients was as follows: 0 in 65 (7%), I in 500 (51%), and II in 420 (43%). The median age was 50 years (range, 21-88), with a median follow-up time of 8.8 years (range,.25-29). The median tumor size was 1.5 cm. FH was positive in 31%. There were no significant differences in locoregional recurrence, distant recurrence, disease-specific survival, or incidence of contralateral breast cancer in patients with a positive FH versus patients with a negative FH. Breast-conservation therapy is not contraindicated in early-stage breast cancer patients with a positive FH.

  12. 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

  13. 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...

  14. 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.

  15. 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 ...

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  17. Epidemiology of Breast Cancer

    OpenAIRE

    南, 優子; ミナミ, ユウコ; MINAMI, Yuko

    2007-01-01

    During recent decades, breast cancer incidence has been increasing in Japan. Epidemiological studies have clarified the trend in breast cancer incidence and identified risk factors for breast cancer. Established risk factors for breast cancer include early age at menarche, late age at first birth, low parity, postmenopausal obesity, family history of breast cancer, and history of benign breast disease. Breast-feeding and physical activity may also be associated with breast cancer risk. Detail...

  18. 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.

  19. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. 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

  2. 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

  3. 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...

  4. The transtheoretical model, health belief model, and breast cancer screening among Iranian women with a family history of breast cancer.

    Science.gov (United States)

    Farajzadegan, Ziba; Fathollahi-Dehkordi, Fariba; Hematti, Simin; Sirous, Reza; Tavakoli, Neda; Rouzbahani, Reza

    2016-01-01

    Participation of Iranian women with a family history of breast cancer in breast cancer screening programs is low. This study evaluates the compliance of women having a family history of breast cancer with clinical breast exam (CBE) according to the stage of transtheoretical model (TTM) and health belief model (HBM). In this cross-sectional study, we used Persian version of champion's HBM scale to collect factors associated with TTM stages applied to screening from women over 20 years and older. The obtained data were analyzed by SPSS, using descriptive statistics, Chi-square test, independent t-test, and analysis of covariance. Final sample size was 162 women. Thirty-three percent were in action/maintenance stage. Older women, family history of breast cancer in first-degree relatives, personal history of breast disease, insurance coverage, and a history of breast self-examination were associated with action/maintenance stage. Furthermore, women in action/maintenance stages had significantly fewer perceived barriers in terms of CBE in comparison to women in other stages (P 0.05). The finding indicates that the rate of women in action/maintenance stage of CBE is low. Moreover, results show a strong association between perceived barriers and having a regular CBE. These clarify the necessity of promoting national target programs for breast cancer screening, which should be considered as the first preference for reducing CBE barriers.

  5. 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.

  6. 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

  7. Breast Cancer

    Science.gov (United States)

    ... disease. It’s estimated that about 10% of breast cancer cases are hereditary (run in the family). In many of these cases, you inherited a gene from your parents that has mutated (changed from ...

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

    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.

  9. Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry.

    Directory of Open Access Journals (Sweden)

    Cameron M Scott

    Full Text Available DNA methylation can mimic the effects of both germline and somatic mutations for cancer predisposition genes such as BRCA1 and p16INK4a. Constitutional DNA methylation of the BRCA1 promoter has been well described and is associated with an increased risk of early-onset breast cancers that have BRCA1-mutation associated histological features. The role of methylation in the context of other breast cancer predisposition genes has been less well studied and often with conflicting or ambiguous outcomes. We examined the role of methylation in known breast cancer susceptibility genes in breast cancer predisposition and tumor development. We applied the Infinium HumanMethylation450 Beadchip (HM450K array to blood and tumor-derived DNA from 43 women diagnosed with breast cancer before the age of 40 years and measured the methylation profiles across promoter regions of BRCA1, BRCA2, ATM, PALB2, CDH1, TP53, FANCM, CHEK2, MLH1, MSH2, MSH6 and PMS2. Prior genetic testing had demonstrated that these women did not carry a germline mutation in BRCA1, ATM, CHEK2, PALB2, TP53, BRCA2, CDH1 or FANCM. In addition to the BRCA1 promoter region, this work identified regions with variable methylation at multiple breast cancer susceptibility genes including PALB2 and MLH1. Methylation at the region of MLH1 in these breast cancers was not associated with microsatellite instability. This work informs future studies of the role of methylation in breast cancer susceptibility gene silencing.

  10. 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...

  11. 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

  12. 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.)

  13. RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.

    Directory of Open Access Journals (Sweden)

    Florence Le Calvez-Kelm

    Full Text Available Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexplained. Because of their critical functions in maintaining genome integrity and already well-established associations with breast cancer susceptibility, it is likely that additional genes involved in the HRR pathway harbor sequence variants associated with increased risk of breast cancer. RAD51 plays a central biological function in DNA repair and despite the fact that rare, likely dysfunctional variants in three of its five paralogs, RAD51C, RAD51D, and XRCC2, have been associated with breast and/or ovarian cancer risk, no population-based case-control mutation screening data are available for the RAD51 gene. We thus postulated that RAD51 could harbor rare germline mutations that confer increased risk of breast cancer.We screened the coding exons and proximal splice junction regions of the gene for germline sequence variation in 1,330 early-onset breast cancer cases and 1,123 controls from the Breast Cancer Family Registry, using the same population-based sampling and analytical strategy that we developed for assessment of rare sequence variants in ATM and CHEK2. In total, 12 distinct very rare or private variants were characterized in RAD51, with 10 cases (0.75% and 9 controls (0.80% carrying such a variant. Variants were either likely neutral missense substitutions (3, silent substitutions (4 or non-coding substitutions (5 that were predicted to have little effect on efficiency of the splicing machinery.Altogether, our data suggest that RAD51 tolerates so little dysfunctional sequence variation that rare variants in the gene contribute little, if anything, to breast cancer susceptibility.

  14. 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

  15. 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

  16. 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...

  17. 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.

  18. The transtheoretical model, health belief model, and breast cancer screening among Iranian women with a family history of breast cancer

    Directory of Open Access Journals (Sweden)

    Ziba Farajzadegan

    2016-01-01

    Full Text Available Background: Participation of Iranian women with a family history of breast cancer in breast cancer screening programs is low. This study evaluates the compliance of women having a family history of breast cancer with clinical breast exam (CBE according to the stage of transtheoretical model (TTM and health belief model (HBM. Materials and Methods: In this cross-sectional study, we used Persian version of champion's HBM scale to collect factors associated with TTM stages applied to screening from women over 20 years and older. The obtained data were analyzed by SPSS, using descriptive statistics, Chi-square test, independent t-test, and analysis of covariance. Results: Final sample size was 162 women. Thirty-three percent were in action/maintenance stage. Older women, family history of breast cancer in first-degree relatives, personal history of breast disease, insurance coverage, and a history of breast self-examination were associated with action/maintenance stage. Furthermore, women in action/maintenance stages had significantly fewer perceived barriers in terms of CBE in comparison to women in other stages (P < 0.05. There was no significant difference in other HBM subscales scores between various stages of CBE screening behavior (P < 0.05. Conclusion: The finding indicates that the rate of women in action/maintenance stage of CBE is low. Moreover, results show a strong association between perceived barriers and having a regular CBE. These clarify the necessity of promoting national target programs for breast cancer screening, which should be considered as the first preference for reducing CBE barriers.

  19. 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

  20. 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.

  1. 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

  2. Synchronous bilateral breast cancer in a male

    Science.gov (United States)

    Rubio Hernández, María Caridad; Díaz Prado, Yenia Ivet; Pérez, Suanly Rodríguez; Díaz, Ronald Rodríguez; Aleaga, Zaili Gutiérrez

    2013-01-01

    Male breast cancer, which represents only 1% of all breast cancers, is occasionally associated with a family history of breast cancer. Sporadic male breast cancers presenting with another primary breast cancer are extremely rare. In this article, we report on a 70-year-old male patient with bilateral multifocal and synchronous breast cancer and without a family history of breast cancer. PMID:24319497

  3. 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.

  4. 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

  5. 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

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

    NARCIS (Netherlands)

    G.H. de Bock (Geertruida); C.E. Jacobi (Catharina); C.M. Seynaeve (Caroline); E.M.M. Krol-Warmerdam (Elly); J. Blom (Jannet); C.J. van Asperen (Christi); C.J. Cornelisse (Cees); J.G.M. Klijn (Jan); P. Devilee (Peter); R.A.E.M. Tollenaar (Rob); C.T. Brekelmans (Cecile); J.C. van Houwelingen

    2008-01-01

    textabstractBackground: 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

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

    NARCIS (Netherlands)

    de Bock, Geertruida H.; Jacobi, Catharina E.; Seynaeve, Caroline; Krol-Warmerdam, Elly M. M.; Blom, Jannet; van Asperen, Christi J.; Cornelisse, Cees J.; Klijn, Jan G. M.; Devilee, Peter; Tollenaar, Rob A. E. M.; Brekelmans, Cecile T. M.; van Houwelingen, Johannes C.

    2008-01-01

    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

  9. Breast cancer screening, outside the population-screening program, of women from breast cancer families without proven BRCA1/BRCA2 mutations : a simulation study

    NARCIS (Netherlands)

    Jacobi, C.E.; Nagelkerke, N.J.D.; van Houwelingen, J.C.; de Bock, G.H.

    Purpose: We assessed the cost-effectiveness of mammography screening for women under the age of 50, from breast cancer families without proven BRCA1./BRCA2 mutations, because current criteria for screening healthy women from breast cancer families are not evidence-based. Methods: We did simulation

  10. Breast cancer screening, outside the population-screening program, of women from breast cancer families without proven BRCA1/BRCA2 mutations: a simulation study

    NARCIS (Netherlands)

    Jacobi, C.E.; Nagelkerke, N.J.D.; van Houwelingen, J.C.; de Bock, Truuske

    2006-01-01

    Purpose: We assessed the cost-effectiveness of mammography screening for women under the age of 50, from breast cancer families without proven BRCA1./BRCA2 mutations, because current criteria for screening healthy women from breast cancer families are not evidence-based. Methods: We did simulation

  11. Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

    NARCIS (Netherlands)

    Thompson, Deborah; Szabo, Csilla I.; Mangion, Jon; Oldenburg, Rogier A.; Odefrey, Fabrice; Seal, Sheila; Barfoot, Rita; Kroeze-Jansema, Karin; Teare, Dawn; Rahman, Nazneen; Renard, Hélène; Mann, Graham; Hopper, John L.; Buys, Saundra S.; Andrulis, Irene L.; Senie, Ruby; Daly, Mary B.; West, Dee; Ostrander, Elaine A.; Offit, Ken; Peretz, Tamar; Osorio, Ana; Benitez, J.; Nathanson, Katherine L.; Sinilnikova, Olga M.; Olàh, Edith; Bignon, Yves-Jean; Ruiz, Pablo; Badzioch, Michael D.; Vasen, Hans F. A.; Futreal, Andrew P.; Phelan, Catherine M.; Narod, Steven A.; Lynch, Henry T.; Ponder, Bruce A. J.; Eeles, Ros A.; Meijers-Heijboer, Hanne; Stoppa-Lyonnet, Dominique; Couch, Fergus J.; Eccles, Diana M.; Evans, D. Gareth; Chang-Claude, Jenny; Lenoir, Gilbert; Weber, Barbara L.; Devilee, Peter; Easton, Douglas F.; Goldgar, David E.; Stratton, Michael R.

    2002-01-01

    The known susceptibility genes for breast cancer, including BRCA1 and BRCA2, only account for a minority of the familial aggregation of the disease. A recent study of 77 multiple case breast cancer families from Scandinavia found evidence of linkage between the disease and polymorphic markers on

  12. 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.

  13. 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.

  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. 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.

  16. Accuracy of Self-Reported Breast Cancer Information among Women from the Ontario Site of the Breast Cancer Family Registry

    Directory of Open Access Journals (Sweden)

    Andriana Barisic

    2012-01-01

    Full Text Available Obtaining complete medical record information can be challenging and expensive in breast cancer studies. The current literature is limited with respect to the accuracy of self-report and factors that may influence this. We assessed the agreement between self-reported and medical record breast cancer information among women from the Ontario site of the Breast Cancer Family Registry. Women aged 20–69 years diagnosed with incident breast cancer 1996–1998 were identified from the Ontario Cancer Registry, sampled on age and family history. We calculated kappa statistics, proportion correct, sensitivity, specificity, and positive and negative predictive values and conducted unconditional logistic regression to examine whether characteristics of the women influenced agreement. The proportions of women who correctly reported having received a broad category of therapy (hormone therapy, chemotherapy, radiation, or surgery as well as sensitivity and specificity were above 90%, and the kappa statistics were above 0.80. The specific type of hormonal or chemotherapy was reported with low-to-moderate agreement. Aside from recurrence, no factors were consistently associated with agreement. Thus, most women were able to accurately report broad categories of treatment but not necessarily specific treatment types. The finding of this study can aid researchers in the use and design of self-administered treatment questionnaires.

  17. 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...

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. Breast Cancer

    Science.gov (United States)

    ... the Mediterranean diet choose healthy fats, such as olive oil, over butter and fish instead of red meat. Breast cancer risk reduction for women with a high risk If your doctor has assessed your family history and determined that you have other factors, such ...

  5. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  7. The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer.

    OpenAIRE

    John, EM; Hopper, Jl; Beck, JC; Knight, JA; Neuhausen, SL; Senie, RT; Ziogas, A; Andrulis, IL; Anton-Culver, H; Boyd, N.; Buys, Ss; Daly, Mb; O'Malley, Fp; Santella, RM; Southey, Mc

    2004-01-01

    INTRODUCTION: The etiology of familial breast cancer is complex and involves genetic and environmental factors such as hormonal and lifestyle factors. Understanding familial aggregation is a key to understanding the causes of breast cancer and to facilitating the development of effective prevention and therapy. To address urgent research questions and to expedite the translation of research results to the clinical setting, the National Cancer Institute (USA) supported in 1995 the establishmen...

  8. Kinesin family member 11 contributes to the progression and prognosis of human breast cancer.

    Science.gov (United States)

    Pei, Yuan-Yuan; Li, Gao-Chi; Ran, Jian; Wei, Feng-Xiang

    2017-12-01

    The present study aimed to clarify the association between kinesin family member 11 (KIF11) and human breast cancer, and the effect of KIF11 on breast cancer cell progression. Western blot analysis, reverse transcription-quantitative polymerase chain reaction (RT-qPCR) analysis, retroviral infection, immunohistochemistry staining, MTT assay, anchorage-independent growth ability assay and tumorigenicity assay were all used in the present study. Western blot and RT-qPCR analysis revealed that the expression of KIF11 was markedly increased in malignant cells compared with that in non-tumorous cells at the mRNA and protein level. Immunohistochemical analysis revealed that KIF11 expression was upregulated in 256/268 (95.8%) paraffin-embedded archival breast cancer biopsies. Statistical analysis demonstrated a significant association between the upregulation of KIF11 expression and the progression of breast cancer. Multivariate analysis revealed that KIF11 upregulation represents an independent prognostic indicator for the survival of patients with breast cancer. Tumorigenicity experiments were further used to evaluate the effect of KIF11 in non-obese diabetic/severe combined immunodeficient mice. Silencing endogenous KIF11 by short hairpin RNAs inhibited the proliferation of breast cancer cells in vitro and in vivo . The present results suggest that KIF11 may serve an important function in the proliferation of breast cancer and may represent a novel and useful prognostic marker for breast cancer.

  9. 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.

  10. 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...

  11. Predicting regular breast cancer screening in African-American women with a family history of breast cancer.

    Science.gov (United States)

    Laing, Sharon S; Makambi, Kepher

    2008-11-01

    To evaluate the impact of socioeconomic, personal and affective factors on regular breast cancer screening in at-risk African-American women. The study was a cross-sectional analysis assessing socioeconomic and affective predictors of breast cancer screening practices. Unaffected African-American women ages 40-64 with a family history of breast cancer were recruited from community settings. The main outcome measures were recent mammography, regular mammography and regular breast self-examinations. The majority of women reported having a recent mammogram (73%) and yearly mammograms (71%). More than half (56%) reported monthly breast self-examinations (BSEs). Available health insurance and risk perception had significant independent associations with regular mammography screening so that women having a mammogram every 6-12 months were more likely to have health insurance [odds ratio (OR)=4.99, 95% confidence interval (CI): 1.05-23.52], and women not engaged in regular screenings were less likely to perceive future breast cancer risk (OR=0.10, 95% CI: 0.01-0.96). Access to regular healthcare had a significant independent association with recent mammography so that women having a mammogram in the past 12 months were more likely to have access to regular healthcare (OR=6.59, 95% CI: 1.01-42.79). A significant majority of this subset of African-American women engage in repeat mammography screenings with cognitive and economic factors predicting noncompliance. Additional research with repeat mammography users is required so that regular screening practices can be encouraged among all at-risk women.

  12. 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.

  13. Familial and sporadic breast cancer cases in Iceland: a comparison related to ABO blood groups and risk of bilateral breast cancer.

    Science.gov (United States)

    Tryggvadottir, L; Tulinius, H; Robertson, J M

    1988-10-15

    This study was aimed at determining whether the familial clustering often observed in breast cancer is associated with genetic factors. We compared familial and sporadic breast cancer cases with respect to ABO blood group distribution and the risk of bilateral disease, using the data from the Icelandic Cancer Registry which contains genealogical information for about 30% of the breast cancer cases diagnosed in Iceland since 1911. Cases were classified as familial if at least one first-degree relative had breast cancer. Using this criterion, we identified 184 familial cases and 572 sporadic cases. The familial cases had a 2-fold higher prevalence of blood group B than did the sporadic cases, and the frequency of this blood group in non-affected relatives of cases was significantly reduced. Familial cases were about 2.7 times more likely to suffer from bilateral breast cancer than were the sporadic patients. These results support the presence of a genetic factor in the etiology of familial breast cancer.

  14. 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.

  15. Family history of cancer other than breast or ovarian cancer in first-degree relatives is associated with poor breast cancer prognosis.

    Science.gov (United States)

    Song, Jun-Long; Chen, Chuang; Yuan, Jing-Ping; Li, Juan-Juan; Sun, Sheng-Rong

    2017-04-01

    Whether a first-degree family history of others cancers (FHOC) than breast or ovarian cancer (BOC) is associated with breast cancer prognosis remains unknown. Thus, the aim of the present study was to clarify this issue. Women who were diagnosed with invasive breast cancer at the Renmin Hospital of Wuhan University from 2010 to 2013 were included in the study. The demographic and clinicopathological characteristics of these patients were extracted. FHOC was considered positive for any patient who had a relative who had been diagnosed with cancer other than BOC. Disease-free survival (DFS) was calculated based on the date of diagnosis. DFS was analyzed using the Cox proportional hazards model. A total of 434 breast cancer patients were included in this study. Among these patients, 61 (14.06%) had a positive FHOC in first-degree relatives. Patients with a positive FHOC tended to have HER2-positive breast cancer (p = 0.03). In the survival analysis, FHOC was associated with poor DFS in both univariate (HR = 2.21 (1.28-3.83), 95% CI: 1.28-3.83, p breast cancer patients with FHOC, especially in patients with luminal A subtype. Copyright © 2017 Elsevier Ltd. All rights reserved.

  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. 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

  18. 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

  19. 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.

  20. 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.

  1. 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

  2. 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.

  3. Increasing Breast Cancer Surveillance Among African American Breast Cancer Survivors

    Science.gov (United States)

    2010-01-01

    one or both breasts were affected. Family Member (e.g. grandmother, aunt) Paternal or Maternal Type or Location of Cancer (e.g. breast ...Local recurrences and distant metastases after breast -conserving surgery and radiation therapy for early breast cancer . Int J Radiat Oncol Biol Phys...AD_________________ AWARD NUMBER: DAMD17-03-1-0454 TITLE: Increasing Breast Cancer Surveillance

  4. Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report.

    Science.gov (United States)

    Pilato, Brunella; De Summa, Simona; Danza, Katia; Lambo, Rossana; Paradiso, Angelo; Tommasi, Stefania

    2010-12-01

    Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes the mutations of which confer high risk to develop breast and/or ovarian cancer. Double heterozygosity is a rare condition in which both BRCA1 and BRCA2 mutations are present in a family at the same time. In the current study, a family with double heterozygosity has been reported. Furthermore, for the first time a molecular analysis in both proband lineages, maternal and paternal, has been reported to understand the provenience of both germinal mutations.The case regards a woman who developed breast and ovarian cancer with liver metastasis which presented two mutations, each in the two genes, transmitted from her mother and her father, respectively. In this family all available members have been investigated. The concomitant presence of these peculiar mutations was never reported before suggesting a link with Caucasian population from Southern Italy.

  5. Breast cancer in younger women: effects on interpersonal and family relations.

    Science.gov (United States)

    Northouse, L L

    1994-01-01

    Although breast cancer can have a stressful impact on women of all ages, young women may be particularly vulnerable to the negative effects of the disease. Based on a developmental perspective, this article reviews studies on the emotional impact of breast cancer on young women, their spouses, children, and the marital relationship. Studies indicate that younger women experience more emotional distress than older women, although the inverse relationship between age and emotional distress is not consistent across all studies. Although age does not appear to have a direct relationship to husbands' adjustments, younger husbands reported more problems carrying out domestic roles and a greater number of life stresses than older husbands. Studies on the impact of breast cancer on children are limited in number and scope but indicate that the effects of breast cancer vary according to the developmental level of the child. Directions for further research on young women and their families are suggested.

  6. Acculturation, Behavioral Factors, and Family History of Breast Cancer among Mexican and Mexican-American Women.

    Science.gov (United States)

    Nodora, Jesse N; Cooper, Renee; Talavera, Gregory A; Gallo, Linda; Meza Montenegro, María Mercedes; Komenaka, Ian; Natarajan, Loki; Gutiérrez Millán, Luis Enrique; Daneri-Navarro, Adrian; Bondy, Melissa; Brewster, Abenaa; Thompson, Patricia; Martinez, María Elena

    2015-01-01

    Incidence rates for breast cancer are higher among Mexican-American (MA) women in the United States than women living in Mexico. Studies have shown higher prevalence of breast cancer risk factors in more acculturated than less acculturated Hispanic/Latinas in the United States. We compared the prevalence of behavioral risk factors and family history of breast cancer by level of acculturation and country of residence in women of Mexican descent. Data were collected from 1,201 newly diagnosed breast cancer patients living in Mexico (n = 581) and MAs in the United States (n = 620). MA participants were categorized into three acculturation groups (Spanish dominant, bilingual, and English dominant); women living in Mexico were used as the referent group. The prevalence of behavioral risk factors and family history of breast cancer were assessed according to acculturation level, adjusting for age at diagnosis and education. In the adjusted models, bilingual and English-dominant MAs were significantly more likely to have a body mass index of 30 kg/m(2) or greater, consume more than one alcoholic beverage a week, and report having a family history of breast cancer than women living in Mexico. All three U.S. acculturation groups were significantly more likely to have lower total energy expenditure (≤533 kcal/d) than women in Mexico. English-dominant women were significantly less likely to ever smoke cigarettes than the Mexican group. Our findings add to the limited scientific literature on the relationships among acculturation, health behavior, and family history of breast cancer in Mexican and MA women. Copyright © 2015 Jacobs Institute of Women's Health. Published by Elsevier Inc. All rights reserved.

  7. Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

    Science.gov (United States)

    Li, Jun; Meeks, Huong; Feng, Bing-Jian; Healey, Sue; Thorne, Heather; Makunin, Igor; Ellis, Jonathan; Campbell, Ian; Southey, Melissa; Mitchell, Gillian; Clouston, David; Kirk, Judy; Goldgar, David; Chenevix-Trench, Georgia

    2016-01-01

    Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast cancer risks associated with mutations in many genes included in these panels are unknown. We performed custom-designed targeted sequencing covering the coding exons of 17 known and putative breast cancer susceptibility genes in 660 non-BRCA1/2 women with familial breast cancer. Putative deleterious mutations were genotyped in relevant family members to assess co-segregation of each variant with disease. We used maximum likelihood models to estimate the breast cancer risks associated with mutations in each of the genes. We found 31 putative deleterious mutations in 7 known breast cancer susceptibility genes (TP53, PALB2, ATM, CHEK2, CDH1, PTEN and STK11) in 45 cases, and 22 potential deleterious mutations in 31 cases in 8 other genes (BARD1, BRIP1, MRE11, NBN, RAD50, RAD51C, RAD51D and CDK4). The relevant variants were then genotyped in 558 family members. Assuming a constant relative risk of breast cancer across age groups, only variants in CDH1, CHEK2, PALB2 and TP53 showed evidence of a significantly increased risk of breast cancer, with some supportive evidence that mutations in ATM confer moderate risk. Panel testing for these breast cancer families provided additional relevant clinical information for genes, but very large case-control sequencing studies and/or larger family-based studies will be needed to define the risks more accurately. 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/

  8. Health literacy and the perception of risk in a breast cancer family history clinic.

    Science.gov (United States)

    Rutherford, E J; Kelly, J; Lehane, E A; Livingstone, V; Cotter, B; Butt, A; O'Sullivan, M J; O Connell, F; Redmond, H P; Corrigan, M A

    2016-11-28

    Informed consent is an essential component of medical practice, and especially so in procedural based specialties which entail varying degrees of risk. Breast cancer is one of the most common cancers in women, and as such is the focus of extensive research and significant media attention. Despite this, considerable misperception exists regarding the risk of developing breast cancer. This study aims to examine the accuracy of risk perception of women attending a breast cancer family history clinic, and to explore the relationship between risk perception accuracy and health literacy. A cross-sectional study of women attending a breast cancer family history clinic (n = 86) was carried out, consisting of a patient survey and a validated health literacy assessment. Patients' perception of personal and population breast cancer risk was compared to actual risk as calculated by a validated risk assessment tool. Significant discordance between real and perceived risks was observed. The majority (83.7%) of women overestimated their personal lifetime risk of developing breast cancer, as well as that of other women of the same age (89.5%). Health literacy was considered potentially inadequate in 37.2% of patients; there was a correlation between low health literacy and increased risk perception inaccuracy across both personal ten-year (rs = 0.224, p = 0.039) and general ten-year population estimations. (rs = 0.267, p = 0.013). Inaccuracy in risk perception is highly prevalent in women attending a breast cancer family history clinic. Health literacy inadequacy is significantly associated with this inaccuracy. Copyright © 2016 Royal College of Surgeons of Edinburgh (Scottish charity number SC005317) and Royal College of Surgeons in Ireland. Published by Elsevier Ltd. All rights reserved.

  9. Patient satisfaction with breast cancer follow-up care provided by family physicians

    Science.gov (United States)

    Thind, Amardeep; Liu, Yihang; Maly, Rose

    2011-01-01

    Purpose There is little evidence to document patient satisfaction with follow up care provided by family physicians/general practitioners (FP/GP) to breast cancer patients. We aimed to identify determinants of satisfaction with such care in low-income medically underserved women with breast cancer. Methods Cross sectional study of 145 women who reported receiving follow up care from a FP/GP. Women were enrolled in California’s Breast and Cervical Cancer Treatment Program and were interviewed by phone 3 years after breast cancer diagnosis. Cleary and McNeil’s model, which states that patient satisfaction is a function of patient characteristics, structure of care, and processes of care, was used to understand the determinants of satisfaction. Stepwise logistic regression was used to identify significant predictors. Results 73.4% reported that they were extremely satisfied with their treatment by the family physician/general practitioner. Women who were able to ask their family physicians questions about their breast cancer had six times greater odds of being extremely satisfied compared to women who were not able to ask any questions. Women who scored the family physician higher on the ability to explain things in a way she could understand had a higher odds of being extremely satisfied compared to women who scored their family physicians lower. Conclusions FP/GPs providing follow up care for breast cancer patients should encourage patients to ask questions, and must communicate in a way that patients understand. These recommendations are congruent with the characteristics of patient centered communication for cancer patients enunciated in a recent NCI monograph. PMID:22086814

  10. Worry Is Good for Breast Cancer Screening: A Study of Female Relatives from the Ontario Site of the Breast Cancer Family Registry

    Directory of Open Access Journals (Sweden)

    Li Rita Zhang

    2012-01-01

    Full Text Available Background. Few prospective studies have examined associations between breast cancer worry and screening behaviours in women with elevated breast cancer risks based on family history. Methods. This study included 901 high familial risk women, aged 23–71 years, from the Ontario site of the Breast Cancer Family Registry. Self-reported breast screening behaviours at year-one followup were compared between women at low (N=305, medium (N=433, and high (N=163 levels of baseline breast cancer worry using logistic regression. Nonlinear relationships were assessed using likelihood ratio tests. Results. A significant non-linear inverted “U” relationship was observed between breast cancer worry and mammography screening (P=0.034 for all women, where women at either low or high worry levels were less likely than those at medium to have a screening mammogram. A similar significant non-linear inverted “U” relationship was also found among all women and women at low familial risk for worry and screening clinical breast examinations (CBEs. Conclusions. Medium levels of cancer worries predicted higher rates of screening mammography and CBE among high-risk women.

  11. 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

  12. Hornerin, an S100 family protein, is functional in breast cells and aberrantly expressed in breast cancer

    Directory of Open Access Journals (Sweden)

    Fleming Jodie M

    2012-06-01

    Full Text Available Abstract Background Recent evidence suggests an emerging role for S100 protein in breast cancer and tumor progression. These ubiquitous proteins are involved in numerous normal and pathological cell functions including inflammatory and immune responses, Ca2+ homeostasis, the dynamics of cytoskeleton constituents, as well as cell proliferation, differentiation, and death. Our previous proteomic analysis demonstrated the presence of hornerin, an S100 family member, in breast tissue and extracellular matrix. Hornerin has been reported in healthy skin as well as psoriatic and regenerating skin after wound healing, suggesting a role in inflammatory/immune response or proliferation. In the present study we investigated hornerin’s potential role in normal breast cells and breast cancer. Methods The expression levels and localization of hornerin in human breast tissue, breast tumor biopsies, primary breast cells and breast cancer cell lines, as well as murine mammary tissue were measured via immunohistochemistry, western blot analysis and PCR. Antibodies were developed against the N- and C-terminus of the protein for detection of proteolytic fragments and their specific subcellular localization via fluorescent immunocytochemisty. Lastly, cells were treated with H2O2 to detect changes in hornerin expression during induction of apoptosis/necrosis. Results Breast epithelial cells and stromal fibroblasts and macrophages express hornerin and show unique regulation of expression during distinct phases of mammary development. Furthermore, hornerin expression is decreased in invasive ductal carcinomas compared to invasive lobular carcinomas and less aggressive breast carcinoma phenotypes, and cellular expression of hornerin is altered during induction of apoptosis. Finally, we demonstrate the presence of post-translational fragments that display differential subcellular localization. Conclusions Our data opens new possibilities for hornerin and its

  13. Effect of multiplicity, laterality, and age at onset of breast cancer on familial risk of breast cancer: a nationwide prospective cohort study.

    Science.gov (United States)

    Kharazmi, Elham; Chen, Tianhui; Narod, Steven; Sundquist, Kristina; Hemminki, Kari

    2014-02-01

    The objective of this nationwide prospective cohort study is to find out the risk of breast cancer (BC) in relatives of patients with multiple BCs by laterality and age at diagnosis of first BC. Having family history of single (HR 1.8; 95 % CI 1.8-1.9) or multiple (HR 2.7; 95 % CI 2.6-2.9) BC was associated with higher risk of BC. Those with an FDR with contralateral BC at any age had the highest risk of familial cancer except at age risk (HR 9.7; 95 % CI 6.0-15.6). The familial risk of BC in these families decreased as the subject's and FDRs' age at diagnosis of first BC increased. The HR was still significantly increased (2.2) for old individuals (>60) having a FDR with contralateral BC at an advanced age (≥80). Despite the common belief that later onset breast cancer is more associated with sporadic breast cancer, our data suggest that breast cancer at any age in the family is associated with some increase in the familial risk, though that risk decreases as the age of onset increases. Contralateral and multiple ipsilateral breast cancers might be associated with distinct shared familial risk factors. Our results have implication for genetic counseling and urge gene identification studies.

  14. Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer.

    Science.gov (United States)

    Danza, K; Pilato, B; Lacalamita, R; Addati, T; Giotta, F; Bruno, A; Paradiso, A; Tommasi, S

    2013-08-01

    Angiogenesis leads to the formation of blood vessels from pre-existing ones, allowing tumor growth. Vascular endothelial growth factor (VEGF) and Angiopoietins (Ang-1, Ang-2) have a pivotal role in tumor angiogenesis but few data regarding their role in hereditary breast cancer are available. The aim of the present study was to analyze Ang-1, Ang-2, tyrosine-protein kinase receptor Tie2 and VEGF expression and their correlation in a cohort of familial and sporadic breast cancers in order to verify whether the presence of germline mutations in BRCA may have a role in tumor microenvironment regulation. Tumor samples from a cohort of 41 patients with a first diagnosis and a family history of breast cancer and 19 patients with sporadic breast cancers were enrolled. The expression of Tie2, Ang-1, Ang-2 and VEGF were analyzed by quantitative real-time PCR. Patients harboring BRCA mutations had higher levels of Ang-1 (P=0.05), Ang-2 (P=0.02) and VEGF (P=0.04) mRNA compared with those without BRCA mutations (BRCAX). The same was observed in triple-negative breast cancer (TNBC). Moreover, a positive correlation between Ang-2 and VEGF was found in both the familial breast cancer group (BRCA carriers: r=0.83; P<0.0001 and BRCAX: r=0.58; P=0.008) and in TNBC (r=0.62; P=0.007). The higher levels of Ang-1, Ang-2 and VEGF mRNA found in BRCA carriers and TNBCs suggest that they could be attractive angiogenic therapeutic targets in these breast cancers.

  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. TGFbeta and miRNA regulation in familial and sporadic breast cancer.

    Science.gov (United States)

    Danza, Katia; Summa, Simona De; Pinto, Rosamaria; Pilato, Brunella; Palumbo, Orazio; Carella, Massimo; Popescu, Ondina; Digennaro, Maria; Lacalamita, Rosanna; Tommasi, Stefania

    2017-08-01

    The term 'BRCAness' was introduced to identify sporadic malignant tumors sharing characteristics similar to those germline BRCA-related. Among all mechanisms attributable to BRCA1 expression silencing, a major role has been assigned to microRNAs. MicroRNAs role in familial and sporadic breast cancer has been explored but few data are available about microRNAs involvement in homologous recombination repair control in these breast cancer subgroups. Our aim was to seek microRNAs associated to pathways underlying DNA repair dysfunction in breast cancer according to a family history of the disease. Affymetrix GeneChip microRNA Arrays were used to perform microRNA expression analysis in familial and sporadic breast cancer. Pathway enrichment analysis and microRNA target prediction was carried out using DIANA miRPath v.3 web-based computational tool and miRWalk v.2 database. We analyzed an external gene expression dataset (E-GEOD-49481), including both familial and sporadic breast cancers. For microRNA validation, an independent set of 19 familial and 10 sporadic breast cancers was used. Microarray analysis identified a signature of 28 deregulated miRNAs. For our validation analyses by real time PCR, we focused on miR-92a-1*, miR-1184 and miR-943 because associated to TGF-β signalling pathway, ATM and BRCA1 genes expression. Our results highlighted alterations in miR-92a-1*, miR-1184 and miR-943 expression levels suggesting their involvement in repair of DNA double-strand breaks through TGF-beta pathway control.

  17. Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

    Directory of Open Access Journals (Sweden)

    Jalkh Nadine

    2012-06-01

    Full Text Available Abstract Breast cancer is the most prevalent malignancy in women in Western countries, currently accounting for one third of all female cancers. Familial aggregation is thought to account for 5–10 % of all BC cases, and germline mutations in BRCA1 and BRCA2 account for less of the half of these inherited cases. In Lebanon, breast cancer represents the principal death-causing malignancy among women, with 50 % of the cases diagnosed before the age of 50 years. In order to study BRCA1/2 mutation spectra in the Lebanese population, 72 unrelated patients with a reported family history of breast and/or ovarian cancers or with an early onset breast cancer were tested. Fluorescent direct sequencing of the entire coding region and intronic sequences flanking each exon was performed. A total of 38 BRCA1 and 40 BRCA2 sequence variants were found. Seventeen of them were novel. Seven confirmed deleterious mutations were identified in 9 subjects providing a frequency of mutations of 12.5 %. Fifteen variants were considered of unknown clinical significance according to BIC and UMD-BRCA1/BRCA2 databases. In conclusion, this study represents the first evaluation of the deleterious and unclassified genetic variants in the BRCA1/2 genes found in a Lebanese population with a relatively high risk of breast cancer.

  18. Expression of IAP family proteins and its clinical importance in breast cancer patients.

    Science.gov (United States)

    Pluta, P; Jeziorski, A; Cebula-Obrzut, A Pluta B; Wierzbowska, A; Piekarski, J; Smolewski, P

    2015-01-01

    Inhibitor of apoptosis (IAP) family proteins is involved in mechanisms of resistance to apoptosis in various cancer cells. The aim of this study was to assess the expression of selected IAP proteins such as XIAP, cIAP-1, cIAP-2 and survivin in breast cancer patients and evaluates their relationship with the prognostic and predictive factors and their impact to overall survival (OS) and progression free survival (PFS). The study was conducted with the use of tissue samples prospectively collected from 92 previously untreated female breast cancer patients. The control encompassed 10 fibroadenoma patients. The expression of XIAP, cIAP-1, cIAP-2 and survivin was assessed using flow multicolor cytometry. XIAP expression was present in 99 % of the breast cancer patients (91/92) with the median expression 13.65% (range 1-66.8%). Expression of XIAP in breast cancer was significantly higher compared to the control group (p=0.006). Median expression of cIAP-1, cIAP-2 and survivin in the study group was 25.95% (range 0.8-83.7%), 16.7% (range 1-53.2%) and 4.6% (range 0-43%) respectively. In the rank Spearman test, strong correlations (pfamily proteins and survival. However, low expression of XIAP in breast cancer showed trend to longer PFS (p=0.08). XIAP, cIAP-1 cIAP-2 and survivin participate in antiapoptotic mechanisms in breast cancer and XIAP and survivin seem to have the most significant prognostic importance. Further studies are needed to establish more complete prognostic and predictive values of IAP family proteins in breast cancer patients.

  19. Breast Cancer in Young Women

    Science.gov (United States)

    ... Campaign Initiatives Participation in Cancer Moonshot Stay Informed Breast Cancer in Young Women Recommend on Facebook Tweet Share Compartir Syndicate this page Marleah’s family history of breast cancer was her motivation for pursuing a career where ...

  20. Internet-based physical activity intervention for women with a family history of breast cancer.

    Science.gov (United States)

    Hartman, Sheri J; Dunsiger, Shira I; Marinac, Catherine R; Marcus, Bess H; Rosen, Rochelle K; Gans, Kim M

    2015-12-01

    Physical inactivity is a modifiable risk factor for breast cancer. Physical activity interventions that can be delivered through the Internet have the potential to increase participant reach. The efficacy of an Internet-based physical activity intervention was tested in a sample of women at an elevated risk for breast cancer. A total of 55 women with at least 1 first-degree relative with breast cancer (but no personal history of breast cancer) were randomized to a 3-month theoretically grounded Internet-based physical activity intervention or an active control arm. Minutes of moderate to vigorous physical activity, psychosocial mediators of physical activity adoption and maintenance, as well as worry and perceived risk of developing breast cancer were assessed at baseline, 3-month, and 5-month follow up. Participants were on average 46.2 (SD = 11.4) years old with a body mass index of 27.3 (SD = 4.8) kg/m2. The intervention arm significantly increased minutes of moderate to vigorous physical activity compared to the active control arm at 3 months (213 vs. 129 min/week) and 5 months (208 vs. 119 min/week; both ps Internet-based physical activity intervention may substantially increase physical activity in women with a family history of breast cancer. (PsycINFO Database Record (c) 2015 APA, all rights reserved).

  1. 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

  2. The Potential Contribution of BRCA Mutations to Early Onset and Familial Breast Cancer in Uzbekistan.

    Science.gov (United States)

    Abdikhakimov, Abdulla; Tukhtaboeva, Mukaddas; Adilov, Bakhtiyar; Turdikulova, Shahlo

    2016-01-01

    Breast cancer is the most common malignancy in women and affects approximately 1 out of 8 females in the US. Risk of developing breast cancer is strongly influenced by genetic factors. Germ-line mutations in BRCA1 and BRCA2 genes are associated with 5-10% of breast cancer incidence. To reduce the risk of developing cancer and to increase the likelihood of early detection, carriers of BRCA1 or BRCA2 mutations are offered surveillance programs and effective preventive medical interventions. Identification of founder mutations of BRCA1/2 in high risk communities can have a significant impact on the management of hereditary cancer at the level of the national healthcare systems, making genetic testing more affordable and cost-effective. BRCA1 and BRCA2 mutations in breast cancer patients have not been characterized in the Uzbek population. This pilot study aimed to investigate the contribution of BRCA1 and BRCA2 mutation to early onset and familial cases of breast cancer in Uzbekistan. A total of 67 patients with breast cancer and 103 age-matched disease free controls were included in this study. Utilizing SYBR Green based real-time allele-specific PCR, we have analyzed DNA samples of patients with breast cancer and disease free controls to identify the following BRCA1 and BRCA2 mutations: BRCA1 5382insC, BRCA1 4153delA, BRCA1 185delAG, BRCA1 300T>G, BRCA2 6174delT. Three unrelated samples (4.5%) were found to be positive for the heterozygous 5382insCBRCA1 mutation, representing a possible founder mutation in the Uzbek population, supporting the need for larger studies examining the contribution of this mutation to breast cancer incidence in Uzbekistan. We did not find BRCA1 4153delA, BRCA1 185delAG, BRCA1 300T>G, and BRCA2 6174delT mutations. This preliminary evidence suggests a potential contribution of BRCA1 5382insC mutation to breast cancer development in Uzbek population. Taking into account a high disease penetrance in carriers of BRCA1 mutation, it seems

  3. A risk management model for familial breast cancer: A new application using Fuzzy Cognitive Map method.

    Science.gov (United States)

    Papageorgiou, Elpiniki I; Jayashree Subramanian; Karmegam, Akila; Papandrianos, Nikolaos

    2015-11-01

    Breast cancer is the most deadly disease affecting women and thus it is natural for women aged 40-49 years (who have a family history of breast cancer or other related cancers) to assess their personal risk for developing familial breast cancer (FBC). Besides, as each individual woman possesses different levels of risk of developing breast cancer depending on their family history, genetic predispositions and personal medical history, individualized care setting mechanism needs to be identified so that appropriate risk assessment, counseling, screening, and prevention options can be determined by the health care professionals. The presented work aims at developing a soft computing based medical decision support system using Fuzzy Cognitive Map (FCM) that assists health care professionals in deciding the individualized care setting mechanisms based on the FBC risk level of the given women. The FCM based FBC risk management system uses NHL to learn causal weights from 40 patient records and achieves a 95% diagnostic accuracy. The results obtained from the proposed model are in concurrence with the comprehensive risk evaluation tool based on Tyrer-Cuzick model for 38/40 patient cases (95%). Besides, the proposed model identifies high risk women by calculating higher accuracy of prediction than the standard Gail and NSAPB models. The testing accuracy of the proposed model using 10-fold cross validation technique outperforms other standard machine learning based inference engines as well as previous FCM-based risk prediction methods for BC. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  4. Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.

    Directory of Open Access Journals (Sweden)

    Irene Catucci

    Full Text Available Breast cancer can be caused by germline mutations in several genes that are responsible for different hereditary cancer syndromes. Some of the genes causing the Fanconi anemia (FA syndrome, such as BRCA2, BRIP1, PALB2, and RAD51C, are associated with high or moderate risk of developing breast cancer. Very recently, SLX4 has been established as a new FA gene raising the question of its implication in breast cancer risk. This study aimed at answering this question sequencing the entire coding region of SLX4 in 526 familial breast cancer cases from Italy. We found 81 different germline variants and none of these were clearly pathogenic. The statistical power of our sample size allows concluding that in Italy the frequency of carriers of truncating mutations of SLX4 may not exceed 0.6%. Our results indicate that testing for SLX4 germline mutations is unlikely to be relevant for the identification of individuals at risk of breast cancer, at least in the Italian population.

  5. Mammographic density and breast cancer risk by family history in women of white and Asian ancestry.

    Science.gov (United States)

    Maskarinec, Gertraud; Nakamura, Kaylae L; Woolcott, Christy G; Conroy, Shannon M; Byrne, Celia; Nagata, Chisato; Ursin, Giske; Vachon, Celine M

    2015-04-01

    Mammographic density, i.e., the radiographic appearance of the breast, is a strong predictor of breast cancer risk. To determine whether the association of breast density with breast cancer is modified by a first-degree family history of breast cancer (FHBC) in women of white and Asian ancestry, we analyzed data from four case-control studies conducted in the USA and Japan. The study population included 1,699 breast cancer cases and 2,422 controls, of whom 45% reported white (N = 1,849) and 40% Asian (N = 1,633) ancestry. To standardize mammographic density assessment, a single observer re-read all mammograms using one type of interactive thresholding software. Logistic regression was applied to estimate odds ratios (OR) while adjusting for confounders. Overall, 496 (12%) of participants reported a FHBC, which was significantly associated with breast cancer risk in the adjusted model (OR 1.51; 95% CI 1.23-1.84). There was a statistically significant interaction on a multiplicative scale between FHBC and continuous percent density (per 10 % density: p = 0.03). The OR per 10% increase in percent density was higher among women with a FHBC (OR 1.30; 95% CI 1.13-1.49) than among those without a FHBC (OR 1.14; 1.09-1.20). This pattern was apparent in whites and Asians. The respective ORs were 1.45 (95% CI 1.17-1.80) versus 1.22 (95% CI 1.14-1.32) in whites, whereas the values in Asians were only 1.24 (95% CI 0.97-1.58) versus 1.09 (95% CI 1.00-1.19). These findings support the hypothesis that women with a FHBC appear to have a higher risk of breast cancer associated with percent mammographic density than women without a FHBC.

  6. Breast cancer

    Science.gov (United States)

    ... help you not feel alone. Outlook (Prognosis) New, improved treatments are helping people with breast cancer live ... carcinoma in situ Patient Instructions Breast radiation - discharge Chemotherapy - what to ask your doctor Lymphedema - self-care ...

  7. 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.

  8. Familial breast cancer. Part II: Relationships with histology, staging, steroid receptors and serum tumor markers.

    Science.gov (United States)

    Gavrilov, I; Nacheva, M; Tzingilev, D

    2002-01-01

    To identify differences in clinical characteristics, histological features, hormone receptor status, and tumor marker expression between patients with sporadic and familial breast cancer. As in the previous Part I of this study, two groups of women with breast cancer were compared. The first group (group I) included 504 patients with a family history of breast cancer. The second (control) group (group II) consisted of 300 patients not reporting such a history in their relatives. The examined parameters in this report were stage and axillary lymph node involvement at the time of the initial diagnosis, treatment methods, hormone receptor status, and serum levels of the tumor markers CEA and CA 15.3. The data were processed and analysed using the SPSS statistical package. The statistical significance of differences between groups and subgroups was evaluated by x(2) Pearson's test and Student's paired t-test. Compared to sporadic cases, patients with familial breast cancer were more often diagnosed at an advanced III or IV stage; metastatic involvement of the regional lymph nodes was more frequent in group I patients. In the same group more radical surgical procedures combined with chemotherapy and local irradiation were performed. In group I the percentage of negative hormone receptors was higher (35.3% versus 22.6%; p result of their particular characteristics, these patients require more radical surgical techniques combined with pre- or postoperative local radiotherapy and systemic chemotherapy.

  9. Breast Cancer Prevention

    Science.gov (United States)

    ... of Breast & Gynecologic Cancers Breast Cancer Screening Research Breast Cancer Prevention (PDQ®)–Patient Version What is prevention? Go ... from starting. Risk-reducing surgery . General Information About Breast Cancer Key Points Breast cancer is a disease in ...

  10. Risk of Breast Cancer in Families with Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Dietz, Alexander; Pedersen, Dorthe Almind; Jacobsen, Rune

    2012-01-01

    PURPOSE: To test whether female subjects in families with cleft lip and/or palate (CL/P) have an increased risk of breast cancer. METHODS: By using the Danish Facial Cleft Registry, we identified female subjects with CL/P, mothers of children with CL/P, and sisters to CL/P cases for the Danish...... birth cohorts 1911-1975. These subjects were compared with a 5% random sample of these cohorts regarding the incidence and age of onset for breast cancer registered in the Danish Hospital Discharge Register 1977-2005. RESULTS: Examining 48,404 person-years for 1809 female CL/P cases (49 breast cancer...... cases) and 212,795 person-years for 7935 female relatives (188 breast cancer cases), we found no increased breast cancer risk for either CL/P cases (hazard ratio [HR], 1.23; 95% confidence interval (CI), 0.92-1.63), mothers of children with CL/P (HR, 0.93; 95% CI, 0.80-1.08), or sisters of CL/P cases...

  11. Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

    Science.gov (United States)

    Piccolo, Stephen R; Andrulis, Irene L; Cohen, Adam L; Conner, Thomas; Moos, Philip J; Spira, Avrum E; Buys, Saundra S; Johnson, W Evan; Bild, Andrea H

    2015-11-04

    Women with a family history of breast cancer face considerable uncertainty about whether to pursue standard screening, intensive screening, or prophylactic surgery. Accurate and individualized risk-estimation approaches may help these women make more informed decisions. Although highly penetrant genetic variants have been associated with familial breast cancer (FBC) risk, many individuals do not carry these variants, and many carriers never develop breast cancer. Common risk variants have a relatively modest effect on risk and show limited potential for predicting FBC development. As an alternative, we hypothesized that additional genomic data types, such as gene-expression levels, which can reflect genetic and epigenetic variation, could contribute to classifying a person's risk status. Specifically, we aimed to identify common patterns in gene-expression levels across individuals who develop FBC. We profiled peripheral blood mononuclear cells from women with a family history of breast cancer (with or without a germline BRCA1/2 variant) and from controls. We used the support vector machines algorithm to differentiate between patients who developed FBC and those who did not. Our study used two independent datasets, a training set of 124 women from Utah (USA) and an external validation (test) set from Ontario (Canada) of 73 women (197 total). We controlled for expression variation associated with clinical, demographic, and treatment variables as well as lymphocyte markers. Our multigene biomarker provided accurate, individual-level estimates of FBC occurrence for the Utah cohort (AUC = 0.76 [0.67-84]) . Even at their lower confidence bounds, these accuracy estimates meet or exceed estimates from alternative approaches. Our Ontario cohort resulted in similarly high levels of accuracy (AUC = 0.73 [0.59-0.86]), thus providing external validation of our findings. Individuals deemed to have "high" risk by our model would have an estimated 2.4 times greater odds of

  12. Immunophenotyping of hereditary breast cancer

    NARCIS (Netherlands)

    van der Groep, P.|info:eu-repo/dai/nl/304810789

    2009-01-01

    Hereditary breast cancer runs in families where several family members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 which account for about 5% of all breast cancers. However, mutations in BRCA1 and BRCA2 may

  13. RAD51C germline mutations in breast and ovarian cancer cases from high-risk families.

    Directory of Open Access Journals (Sweden)

    Jessica Clague

    Full Text Available BRCA1 and BRCA2 are the most well-known breast cancer susceptibility genes. Additional genes involved in DNA repair have been identified as predisposing to breast cancer. One such gene, RAD51C, is essential for homologous recombination repair. Several likely pathogenic RAD51C mutations have been identified in BRCA1- and BRCA2-negative breast and ovarian cancer families. We performed complete sequencing of RAD51C in germline DNA of 286 female breast and/or ovarian cancer cases with a family history of breast and ovarian cancers, who had previously tested negative for mutations in BRCA1 and BRCA2. We screened 133 breast cancer cases, 119 ovarian cancer cases, and 34 with both breast and ovarian cancers. Fifteen DNA sequence variants were identified; including four intronic, one 5' UTR, one promoter, three synonymous, and six non-synonymous variants. None were truncating. The in-silico SIFT and Polyphen programs were used to predict possible pathogenicity of the six non-synonomous variants based on sequence conservation. G153D and T287A were predicted to be likely pathogenic. Two additional variants, A126T and R214C alter amino acids in important domains of the protein such that they could be pathogenic. Two-hybrid screening and immunoblot analyses were performed to assess the functionality of these four non-synonomous variants in yeast. The RAD51C-G153D protein displayed no detectable interaction with either XRCC3 or RAD51B, and RAD51C-R214C displayed significantly decreased interaction with both XRCC3 and RAD51B (p<0.001. Immunoblots of RAD51C-Gal4 activation domain fusion peptides showed protein levels of RAD51C-G153D and RAD51C-R214C that were 50% and 60% of the wild-type, respectively. Based on these data, the RAD51C-G153D variant is likely to be pathogenic, while the RAD51C- R214C variant is hypomorphic of uncertain pathogenicity. These results provide further support that RAD51C is a rare breast and ovarian cancer susceptibility gene.

  14. Alcohol consumption and breast cancer-specific and all-cause mortality in women diagnosed with breast cancer at the New York site of the Breast Cancer Family Registry.

    Directory of Open Access Journals (Sweden)

    Nur Zeinomar

    Full Text Available Alcohol consumption is an established and important risk factor for breast cancer incidence in the general population. However, the relationship between alcohol and mortality among women with breast cancer is less clear. This study examines the effect of alcohol consumption on mortality in women affected with breast cancer at baseline from a high-risk family breast and ovarian cancer registry.We studied 1116 women affected with breast cancer at baseline from the Metropolitan New York Registry. The examined reported alcohol consumption (total of beer, wine, liquor was defined as the average number of drinks per week reported from age 12 to age at baseline. We assessed vital status of each participant using participant or family reported data and we used the National Death Index to supplement deaths reported through family updates. We used Cox proportional hazards models to estimate the association between alcohol intake and overall mortality (HRO, breast cancer-specific mortality (HRBC, and non-breast cancer mortality (HRNBC, adjusted for confounders.After a mean follow-up of 9.1 years, we observed 211 total deaths and 58 breast cancer deaths. Compared to non-drinkers, we found that both low and moderate to heavy levels of alcohol intake were not associated with greater overall mortality (≤3 drinks/week: HRO: 0.66, 95% CI: 0.38-1.14; > 3 drinks/week: HRO: 1.16, 95% CI: 0.85-1.58, breast cancer-specific mortality (≤ 3 drinks/week: HRBC:0.62, 95% CI: 0.19-2.03; >3 drinks/week: HR BC: 0.96, 95% CI: 0.49-1.89, or non-breast cancer-specific mortality (≤3 drinks/week: HR NBC: 0.73, 95% CI: 0.32-1.6; >3 drinks/week: HRNBC: 1.18, 95% CI: 0.75-1.86.Alcohol intake reported from age 12 to age at baseline was not associated with overall or breast cancer-specific mortality in this cohort of affected women with a family history of breast cancer.

  15. Breast Cancer: Treatment Options

    Science.gov (United States)

    ... Breast Cancer > Breast Cancer: Treatment Options Request Permissions Breast Cancer: Treatment Options Approved by the Cancer.Net Editorial ... as possible. Learn more about palliative care . Recurrent breast cancer If the cancer does return after treatment for ...

  16. VEGF, HIF-1α expression and MVD as an angiogenic network in familial breast cancer.

    Science.gov (United States)

    Saponaro, Concetta; Malfettone, Andrea; Ranieri, Girolamo; Danza, Katia; Simone, Giovanni; Paradiso, Angelo; Mangia, Anita

    2013-01-01

    Angiogenesis, which plays an important role in tumor growth and progression of breast cancer, is regulated by a balance between pro- and anti-angiogenic factors. Expression of vascular endothelial growth factor (VEGF) is up-regulated during hypoxia by hypoxia-inducible factor-1α (HIF-1α). It is known that there is an interaction between HIF-1α and BRCA1 carrier cancers, but little has been reported about angiogenesis in BRCA1-2 carrier and BRCAX breast cancers. In this study, we investigated the expression of VEGF and HIF-1α and microvessel density (MVD) in 26 BRCA1-2 carriers and 58 BRCAX compared to 77 sporadic breast cancers, by immunohistochemistry. VEGF expression in BRCA1-2 carriers was higher than in BRCAX cancer tissues (p = 0.0001). Furthermore, VEGF expression was higher in both BRCA1-2 carriers and BRCAX than the sporadic group (p<0.0001). VEGF immunoreactivity was correlated with poor tumor grade (p = 0.0074), hormone receptors negativity (p = 0.0206, p = 0.0002 respectively), and MIB-1-labeling index (p = 0.0044) in familial cancers (BRCA1-2 and BRCAX). The percentage of nuclear HIF-1α expression was higher in the BRCA1-2 carriers than in BRCAX cancers (p<0.05), and in all familial than in sporadic tumor tissues (p = 0.0045). A higher MVD was observed in BRCA1-2 carrier than in BRCAX and sporadic cancer tissues (p = 0.002, p = 0.0001 respectively), and in all familial tumors than in sporadic tumors (p = 0.01). MVD was positively related to HIF-1α expression in BRCA1-2 carriers (r = 0.521, p = 0.006), and, in particular, we observed a highly significant correlation in the familial group (r = 0.421, p<0.0001). Our findings suggest that angiogenesis plays a crucial role in BRCA1-2 carrier breast cancers. Prospective studies in larger BRCA1-2 carrier series are needed to improve the best therapeutic strategies for this subgroup of breast cancer patients.

  17. Breast Cancer Treatment

    Science.gov (United States)

    ... of Breast & Gynecologic Cancers Breast Cancer Screening Research Breast Cancer Treatment (PDQ®)–Patient Version General Information About Breast Cancer Go to Health Professional Version Key Points Breast ...

  18. Stages of Breast Cancer

    Science.gov (United States)

    ... of Breast & Gynecologic Cancers Breast Cancer Screening Research Breast Cancer Treatment (PDQ®)–Patient Version General Information About Breast Cancer Go to Health Professional Version Key Points Breast ...

  19. Breast cancer screening

    Science.gov (United States)

    Mammogram - breast cancer screening; Breast exam - breast cancer screening; MRI - breast cancer screening ... is performed to screen women to detect early breast cancer when it is more likely to be cured. ...

  20. Evaluation of a Peer-Staffed Hotline for Families Who Received Genetic Testing for Risk of Breast Cancer

    National Research Council Canada - National Science Library

    Coyne, James

    2004-01-01

    This project proposed to develop, implement, and evaluate a peer-staffed toll-free hotline for individuals at high risk of developing hereditary breast cancer, either through family history or known BRCA1/2 mutations...

  1. The Importance of Family History in Breast Cancer Patients in Primary Care Setting: a Cross-sectional Study.

    Science.gov (United States)

    Kartal, Mehtap; Ozcakar, Nilgun; Hatipoglu, Sehnaz; Tan, Makbule Neslisah; Guldal, Azize Dilek

    2017-06-01

    Screening recommendations of physicians are important for women to raise awareness about their risk factors and to promote appropriate screening behaviors. However, it seems challenging for primary care physicians (PCPs) to balance disease prevention and diagnosis, treatment. The objective of this study was to describe physicians' breast cancer consultancy practice including family history, cancer prevention issues for the women they care. This cross-sectional study included 577 women aged above 45 years, free of breast cancer, during their visits to their PCPs. Nearly half of the women reported their visit to PCPs for an annual examination during the year. Among them, 36.1% had first-degree relatives with cancer and 7.3% with breast cancer. But they reported to be asked about family history of cancer and informed about cancer prevention issues 35.1 and 26.4%, respectively. Cancer still seems to be a hard issue to be discussed, even with women visiting PCPs for annual examination. Asking first-degree relative with breast cancer can give PCPs the chance of determining women with increased risk and support women's appropriate understanding of their own risk in relation to their family history. This routine can make shared-decision making for developing person-centered approach for breast cancer screening possible. Further studies are needed for better understanding of loss of consultancy leadership of physicians for breast cancer.

  2. HER2-family signalling mechanisms, clinical implications and targeting in breast cancer.

    OpenAIRE

    Elster, N; Collins, Denis M; Toomey, Sinead; Crown, John; Eustace, Alex J; Hennessy, Bryan T.

    2015-01-01

    Approximately 20 % of human breast cancers (BC) overexpress HER2 protein, and HER2-positivity is associated with a worse prognosis. Although HER2-targeted therapies have significantly improved outcomes for HER2-positive BC patients, resistance to trastuzumab-based therapy remains a clinical problem. In order to better understand resistance to HER2-targeted therapies in HER2-positive BC, it is necessary to examine HER family signalling as a whole. An extensive literature search was carried out...

  3. Family caregivers of women with breast cancer in Iran report high psychological impact six months after diagnosis.

    Science.gov (United States)

    Khanjari, Sedigheh; Langius-Eklöf, Ann; Oskouie, Fatemeh; Sundberg, Kay

    2014-12-01

    To explore how family caregivers of women with breast cancer in Iran describe the areas in life which are important to their quality of life (QoL), and to determine which areas in life that are influenced by having a family member with breast cancer. The study is descriptive and prospective. A total of 88 family caregivers of women newly diagnosed with breast cancer were interviewed using the Schedule for the Evaluation of Individual Quality of Life (SEIQoL-DW) at a time close to diagnosis and then again at 6 months after. Interviews were analyzed by manifest inductive qualitative content analysis. Areas related to the categories Own and Family health, and Relationships were considered to be the most important to QoL. A majority of the family caregivers reported that concerns categorised as Psychological impact had high influence on QoL shortly after diagnosis and the following six months. Other areas that were frequently mentioned at both time points were categorized as Focus on family health, Concerns about the disease, and Change in family relationship. Positive aspects in life were also reported as a consequence to the breast cancer diagnosis. High psychological impact is a concern of family caregivers six months after diagnosis of breast cancer. It is imperative that family caregivers are given early attention, and the opportunity to express their perceptions and needs, as this may lead to a better understanding of their experience, thus providing guidance for supportive interventions. Copyright © 2014 Elsevier Ltd. All rights reserved.

  4. 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

  5. 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...

  6. Mutations and polymorphic BRCA variants transmission in breast cancer familial members.

    Science.gov (United States)

    Pilato, Brunella; Martinucci, Marianna; Danza, Katia; Pinto, Rosamaria; Petriella, Daniela; Lacalamita, Rosanna; Bruno, Michele; Lambo, Rossana; D'Amico, Cosimo; Paradiso, Angelo; Tommasi, Stefania

    2011-02-01

    We previously showed that about 80% of breast cancer patients at high risk to carry mutation in BRCA genes presented at least one polymorphism in these genes which resulted potentially harmful by in silico analysis. In the present paper, the genealogic transmission of those polymorphic coding and noncoding variants of BRCA genes in family's members has been investigated. Thirty families, enrolled within the Genetic Counselling Program of our Institute, with probands and at least one-first degree relative (n = 67 family members) available, have been studied for both BRCA1 and BRCA2 pathological mutation and polymorphic variants' transmission. Ten and 6 probands carried Mendelian transmitted mutations in BRCA1 and BRCA2, respectively. Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present. Furthermore, specific haplotypes were transmitted in all relatives as BRCA1 871Leu-1038Gly, present in both BRCA mutated and nonmutated families, while BRCA2 289His-991Asp-IVS14+53 C>T present only in BRCAX families suggesting the harmful role of these SNPs. In conclusion, analysis of SNPs maps and modality of their transmission could identify further susceptibility markers and provide a basis for a better DNA-based cancer classification.

  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. Ras-association domain family 1C protein promotes breast cancer cell migration and attenuates apoptosis

    Directory of Open Access Journals (Sweden)

    Aragon Robert J

    2010-10-01

    Full Text Available Abstract Background The Ras association domain family 1 (RASSF1 gene is a Ras effector encoding two major mRNA forms, RASSF1A and RASSF1C, derived by alternative promoter selection and alternative mRNA splicing. RASSF1A is a tumor suppressor gene. However, very little is known about the function of RASSF1C both in normal and transformed cells. Methods Gene silencing and over-expression techniques were used to modulate RASSF1C expression in human breast cancer cells. Affymetrix-microarray analysis was performed using T47D cells over-expressing RASSF1C to identify RASSF1C target genes. RT-PCR and western blot techniques were used to validate target gene expression. Cell invasion and apoptosis assays were also performed. Results In this article, we report the effects of altering RASSF1C expression in human breast cancer cells. We found that silencing RASSF1C mRNA in breast cancer cell lines (MDA-MB231 and T47D caused a small but significant decrease in cell proliferation. Conversely, inducible over-expression of RASSF1C in breast cancer cells (MDA-MB231 and T47D resulted in a small increase in cell proliferation. We also report on the identification of novel RASSF1C target genes. RASSF1C down-regulates several pro-apoptotic and tumor suppressor genes and up-regulates several growth promoting genes in breast cancer cells. We further show that down-regulation of caspase 3 via overexpression of RASSF1C reduces breast cancer cells' sensitivity to the apoptosis inducing agent, etoposide. Furthermore, we found that RASSF1C over-expression enhances T47D cell invasion/migration in vitro. Conclusion Together, our findings suggest that RASSF1C, unlike RASSF1A, is not a tumor suppressor, but instead may play a role in stimulating metastasis and survival in breast cancer cells.

  9. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families

    Directory of Open Access Journals (Sweden)

    Sólyom Szilvia

    2008-05-01

    Full Text Available Abstract Background BRCA1 and BRCA2 are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, PALB2 has recently been identified as a breast cancer susceptibility gene in several populations. Here we have evaluated whether large genomic rearrangement in these genes could explain some of Finnish breast and/or ovarian cancer families. Methods Altogether 61 index patients of Northern Finnish breast and/or ovarian cancer families were analyzed by Multiplex ligation-dependent probe amplification (MLPA method in order to identify exon deletions and duplications in BRCA1, BRCA2 and PALB2. The families have been comprehensively screened for germline mutation in these genes by conventional methods of mutation analysis and were found negative. Results We identified one large deletion in BRCA1, deleting the most part of the gene (exon 1A-13 in one family with family history of ovarian cancer. No large genomic rearrangements were identified in either BRCA2 or PALB2. Conclusion In Finland, women eligible for BRCA1 or BRCA2 mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in BRCA1. On the contrary, the genomic rearrangements in PALB2 seem not to contribute to the hereditary breast cancer susceptibility.

  10. Is there an association between invasive lobular carcinoma of the breast and a family history of gastric cancer?

    Science.gov (United States)

    Chikman, Bar; Davidson, Tima; Kais, Hasan; Jeroukhimov, Igor; Leshno, Ari; Sandbank, Judith; Halevy, Ariel; Lavy, Ron

    2016-01-01

    CDH1 gene mutations have been found to be associated with diffuse type gastric cancer and invasive lobular carcinoma (ILC) of the breast. To the best of our knowledge, this is the only study relating a family history of gastric cancer to ILC of the breast. We conducted a retrospective study comparing the family history of malignancies in patients with invasive ductal carcinoma (IDC) of the breast and ILC treated in our Medical Center. The comparison was evaluated in both types of breast cancer groups, dividing the patients into two age groups, <50 and ≥50 years. One thousand one hundred and sixty-seven patients with IDC and ILC entered the study. A family history of malignancies was reported in 21.6 % of patients with IDC as opposed to 37.8 % of patients with ILC (P < 0.001). A history of gastric cancer was reported in 7.2 % in the ILC group as compared to 2.3 % in the IDC group, P < 0.008. A family history of breast cancer was more common in the ILC group as opposed to the IDC group, 18 versus 8.1 % respectively, P = 0.002 and persisted in both age groups. We conclude that a family history of malignancies in first degree relatives is more common in patients with ILC than IDC and that there is a significant association between a family history of gastric cancer and ILC.

  11. Australian clinicians and chemoprevention for women at high familial risk for breast cancer

    Directory of Open Access Journals (Sweden)

    Keogh Louise A

    2009-05-01

    Full Text Available Abstract Objectives Effective chemoprevention strategies exist for women at high risk for breast cancer, yet uptake is low. Physician recommendation is an important determinant of uptake, but little is known about clinicians' attitudes to chemoprevention. Methods Focus groups were conducted with clinicians at five Family Cancer Centers in three Australian states. Discussions were recorded, transcribed and analyzed thematically. Results Twenty three clinicians, including genetic counselors, clinical geneticists, medical oncologists, breast surgeons and gynaecologic oncologists, participated in six focus groups in 2007. The identified barriers to the discussion of the use of tamoxifen and raloxifene for chemoprevention pertained to issues of evidence (evidence for efficacy not strong enough, side-effects outweigh benefits, oophorectomy superior for mutation carriers, practice (drugs not approved for chemoprevention by regulatory authorities and not government subsidized, chemoprevention not endorsed in national guidelines and not many women ask about it, and perception (clinicians not knowledgeable about chemoprevention and women thought to be opposed to hormonal treatments. Conclusion The study demonstrated limited enthusiasm for discussing breast cancer chemoprevention as a management option for women at high familial risk. Several options for increasing the likelihood of clinicians discussing chemoprevention were identified; maintaining up to date national guidelines on management of these women and education of clinicians about the drugs themselves, the legality of "off-label" prescribing, and the actual costs of chemopreventive medications.

  12. Breast cancer

    CERN Multimedia

    2002-01-01

    "Cancer specialists will soon be able to compare mammograms with computerized images of breast cancer from across Europe, in a bid to improve diagnosis and treatment....The new project, known as MammoGrid, brings together computer and medical imaging experts, cancer specialists, radiologists and epidemiologists from Bristol, Oxford, Cambridge, France and Italy" (1 page).

  13. 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.

  14. 6 Common Cancers - Breast Cancer

    Science.gov (United States)

    ... Home Current Issue Past Issues 6 Common Cancers - Breast Cancer Past Issues / Spring 2007 Table of Contents For ... slow her down. Photo: AP Photo/Brett Flashnick Breast Cancer Breast cancer is a malignant (cancerous) growth that ...

  15. Breast cancer: equal rights?

    Directory of Open Access Journals (Sweden)

    Ana Fátima Carvalho Fernandes

    2015-02-01

    Full Text Available There is not any statistics related to encouraging breast cancer along the past century, and there has not been any in present century. It has been published in the scientific and lay press information on the crescent number of women attacked by breast cancer. How to spare women and family members of such pain when they experience this disease? Which rights provide assistance to the women with cancer?

  16. Breast Cancer

    Science.gov (United States)

    ... a reduced risk of breast cancer. The Mediterranean diet focuses mostly on plant-based foods, such as fruits and vegetables, whole grains, legumes, and nuts. People who follow the Mediterranean diet choose healthy fats, such as olive oil, over ...

  17. The Role of the Family Environment and Computer-Mediated Social Support on Breast Cancer Patients' Coping Strategies

    Science.gov (United States)

    Yoo, Woohyun; Shah, Dhavan V.; Shaw, Bret R.; Kim, Eunkyung; Smaglik, Paul; Roberts, Linda J.; Hawkins, Robert P.; Pingree, Suzanne; Mcdowell, Helene; Gustafson, David H.

    2014-01-01

    Despite the importance of family environment and computer-mediated social support (CMSS) for women with breast cancer, little is known about the interplay of these sources of care and assistance on patients' coping strategies. To understand this relation, the authors examined the effect of family environment as a predictor of the use of CMSS groups as well as a moderator of the relation between group participation and forms of coping. Data were collected from 111 patients in CMSS groups in the Comprehensive Health Enhancement Support System “Living with Breast Cancer” intervention. Results indicate that family environment plays a crucial role in (a) predicting breast cancer patient's participation in CMSS groups and (b) moderating the effects of use of CMSS groups on breast cancer patients' coping strategies such as problem-focused coping and emotion-focused coping. PMID:24511907

  18. Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus

    NARCIS (Netherlands)

    Oldenburg, Rogier A.; Kroeze-Jansema, Karin H. G.; Houwing-Duistermaat, Jeanine J.; Bayley, Jean-Pierre; Dambrot, Cheryl; van Asperen, Christi J.; van den Ouweland, Ans M. W.; Bakker, Bert; van Beers, Erik H.; Nederlof, Petra M.; Vasen, Hans; Hoogerbrugge, Nicoline; Cornelisse, Cees J.; Meijers-Heijboer, Hanne; Devilee, Peter

    2008-01-01

    Breast cancer accounts for over 20% of all female cancers. A positive family history remains one of the most important risk factors for the disease, with first-degree relatives of patients having a twofold elevated risk. Known breast cancer susceptibility genes such as BRCA1 and BRCA2 explain only

  19. Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

    DEFF Research Database (Denmark)

    Hansen, Thomas V O; Jønson, Lars; Steffensen, Ane Y

    2011-01-01

    and BRCA2 in high risk breast and/or ovarian cancer families. The mutations were detected via pre-screening using dHPLC or high-resolution melting and direct sequencing. We identified 16 variants in BRCA1, including 9 deleterious frame-shift mutations, 2 intronic variants, 4 missense mutations, and 1......Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1...

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

    Directory of Open Access Journals (Sweden)

    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.

  1. Familial Gastrointestinal Stromal Tumor with Germline KIT Mutations Accompanying Hereditary Breast and Ovarian Cancer Syndrome.

    Science.gov (United States)

    Sekido, Yuki; Ohigashi, Seiji; Takahashi, Tsuyoshi; Hayashi, Naoki; Suzuki, Koyu; Hirota, Seiichi

    2017-03-01

    Familial gastrointestinal stromal tumor (GIST) is a rare disease with germline mutations in the c-kit gene (KIT) or platelet-derived growth factor receptor alpha gene (PDGFRA). We had encountered multiple GISTs in the stomach and small intestine during a screening of ovarian cancer for a woman with hereditary breast and ovarian cancer syndrome (HBOC) with breast cancer susceptibility gene II (BRCA2) mutations. The aim of this study was to examine this case in detail. A 65-year-old woman diagnosed with HBOC harboring BRCA2 mutations was found to have multiple tumors in the stomach and small intestine by abdominal screening. All tumors were resected, and KIT gene mutations (p.Trp557Leu and p.Lys558Glu) in exon 11 were detected in all tumors and peripheral blood leukocytes. The patient was diagnosed with familial GIST. This was an extremely rare case in which familial GIST with germline KIT gene mutations co-existed with HBOC. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

  2. CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families

    OpenAIRE

    Abud, Jamile; Prolla, João Carlos; Koehler-Santos, Patrícia; Ashton-Prolla, Patricia

    2012-01-01

    CONTEXT: CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, 1100delC, has been described as a low penetrance allele in a significant number of families with breast and colorectal cancer in certain countries and is also associated with increased risk of contralateral breast cancer in women previously affected b...

  3. No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study.

    Science.gov (United States)

    Park, Daniel J; Southey, Melissa C; Giles, Graham G; Hopper, John L

    2011-01-01

    Numerous independent groups from a range of countries have reported a high prevalence of Mouse Mammary Tumour Virus (MMTV)-like env sequences in human breast cancer specimens, including a prevalence of almost 40% in Australia. MMTV-like sag sequences and a completely integrated provirus have also been described. Recently, it was reported that MMTV is capable of productive infection of human breast cells in vitro. Conclusive demonstration of an association between MMTV and human breast cancer has remained elusive, and negative findings from a number of independent studies have questioned the role of MMTV as an aetiological agent. We used breast cancer specimens from women in the Australian Breast Cancer Family Study (ABCFS) who were diagnosed with first primary invasive breast cancer before the age of 40 years. Specimens were selected for higher grade cancers and for diagnosis relatively soon after childbirth. We searched for MMTV-like env sequences in tumour-enriched DNA using a nested PCR designed to detect all MMTV variants represented in GenBank, including those reportedly detected in human breast cancers. Forty-two specimens were deemed adequate for testing based on strong β-globin PCR. Despite the MMTV nested PCR regimen consistently detecting five copies of control plasmid against a background of MMTV-negative human genomic DNA, no MMTV env sequence was detected in any of the breast cancer specimens. Our findings appear inconsistent with previous reports on Australian breast cancer specimens but consistent with a growing number of independent negative reports internationally. We recommend caution in inferring a role for MMTV or a closely related virus in human breast cancer and suggest that universally regarded alternative lines of evidence such as highly specific serology data will be required to support such an association.

  4. Rh factor, family history and risk of breast cancer: a case-control study in Uruguay.

    Science.gov (United States)

    Ronco, Alvaro L; Stoll, Mario; De Stéfani, Eduardo; Maisonneuve, Juan E; Mendoza, Beatriz A; Deneo-Pellegrini, Hugo

    2009-01-01

    To explore possible relationships among blood factors, family history of breast cancer (BC) and the risk of the disease, a case-control study was carried out in Montevideo, Uruguay. Eight hundred and one patients were interviewed, including 252 certified cases of BC and 549 frequency-matched controls. Blood groups (ABO, Rh) were obtained from medical records. Multivariate analyses were performed, adjusting for age, selected menstrual and reproductive factors, and family history of BC as well as of other cancers. We found that the absence of Rh factor (Rh-) was positively associated with the risk of BC (adjusted Odds Ratio [OR]=1.49, 95% Confidence Interval [95% CI] 1.05-2.11). Stratified analyses by family history of BC showed a strong association for Rh- with a positive history of first degree relatives (OR=3.17, 95% CI 1.06-9.47). Also stratified analyses by family history of other cancers showed a positive association for Rh- with a positive history of first degree relatives (OR=2.08, 95% CI 1.05-4.11). Regarding the implications of an inherited factor like Rh and its associations with the family history of BC, it might increase the probability to generate high-risk individuals if further studies confirm the present preliminary findings.

  5. 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.

  6. Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.

    Science.gov (United States)

    Osher, D J; De Leeneer, K; Michils, G; Hamel, N; Tomiak, E; Poppe, B; Leunen, K; Legius, E; Shuen, A; Smith, E; Arseneau, J; Tonin, P; Matthijs, G; Claes, K; Tischkowitz, M D; Foulkes, W D

    2012-04-10

    Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families. The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions. We identified one previously reported deleterious mutation, p.Arg186(*) (c.556C>T), and two novel variants; missense substitution p.Cys119Arg and an intronic variant c.83-26A>G. p.Arg186(*) segregated with the disease in the family and two ovarian carcinomas available for analysis showed loss of the wild-type allele, but the novel variants are likely neutral. RAD51D should be included in genetic screening of ovarian cancer families that do not have BRCA1/BRCA2 mutations. We show that mutations are more likely to be found in families with two or more ovarian cancers, or in probands with first-degree relatives with ovarian cancer, and we feel testing should be preferentially offered to affected women from such families.

  7. copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.

    Directory of Open Access Journals (Sweden)

    Kirsi M Kuusisto

    Full Text Available BACKGROUND: Inherited factors predisposing individuals to breast and ovarian cancer are largely unidentified in a majority of families with hereditary breast and ovarian cancer (HBOC. We aimed to identify germline copy number variations (CNVs contributing to HBOC susceptibility in the Finnish population. METHODS: A cohort of 84 HBOC individuals (negative for BRCA1/2-founder mutations and pre-screened for the most common breast cancer genes and 36 healthy controls were analysed with a genome-wide SNP array. CNV-affecting genes were further studied by Gene Ontology term enrichment, pathway analyses, and database searches to reveal genes with potential for breast and ovarian cancer predisposition. CNVs that were considered to be important were validated and genotyped in 20 additional HBOC individuals (6 CNVs and in additional healthy controls (5 CNVs by qPCR. RESULTS: An intronic deletion in the EPHA3 receptor tyrosine kinase was enriched in HBOC individuals (12 of 101, 11.9% compared with controls (27 of 432, 6.3% (OR = 1.96; P = 0.055. EPHA3 was identified in several enriched molecular functions including receptor activity. Both a novel intronic deletion in the CSMD1 tumor suppressor gene and a homozygous intergenic deletion at 5q15 were identified in 1 of 101 (1.0% HBOC individuals but were very rare (1 of 436, 0.2% and 1 of 899, 0.1%, respectively in healthy controls suggesting that these variants confer disease susceptibility. CONCLUSION: This study reveals new information regarding the germline CNVs that likely contribute to HBOC susceptibility in Finland. This information may be used to facilitate the genetic counselling of HBOC individuals but the preliminary results warrant additional studies of a larger study group.

  8. Risks of Breast Cancer Screening

    Science.gov (United States)

    ... of Breast & Gynecologic Cancers Breast Cancer Screening Research Breast Cancer Screening (PDQ®)–Patient Version What is screening? ... cancer screening: Cancer Screening Overview General Information About Breast Cancer Key Points Breast cancer is a disease ...

  9. BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

    Science.gov (United States)

    Frank, Bernd; Hemminki, Kari; Meindl, Alfons; Wappenschmidt, Barbara; Sutter, Christian; Kiechle, Marion; Bugert, Peter; Schmutzler, Rita K; Bartram, Claus R; Burwinkel, Barbara

    2007-01-01

    Background Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC). Methods We investigated the effect of BRIP1 -64G>A and Pro919Ser on familial BC risk by means of TaqMan allelic discrimination, analysing BRCA1/BRCA2 mutation-negative index patients of 571 German BC families and 712 control individuals. Results No significant differences in genotype frequencies between BC cases and controls for BRIP1 -64G>A and Pro919Ser were observed. Conclusion We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC. PMID:17504528

  10. BRIP1 (BACH1 variants and familial breast cancer risk: a case-control study

    Directory of Open Access Journals (Sweden)

    Bugert Peter

    2007-05-01

    Full Text Available Abstract Background Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1 have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC. Methods We investigated the effect of BRIP1 -64G>A and Pro919Ser on familial BC risk by means of TaqMan allelic discrimination, analysing BRCA1/BRCA2 mutation-negative index patients of 571 German BC families and 712 control individuals. Results No significant differences in genotype frequencies between BC cases and controls for BRIP1 -64G>A and Pro919Ser were observed. Conclusion We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC.

  11. Family medicine, 'La Herencia' and breast cancer; understanding the (dis)continuities of predictive genetics in Cuba.

    Science.gov (United States)

    Gibbon, Sahra

    2011-06-01

    Building on social science research examining the relationship between genetic knowledge, identity and the family this paper takes the cultural context of Cuba as a site for critical ethnographic engagement. The paper makes use of research working with a range of Cuban public and genetic professionals as part of a collaborative research project exploring the social and cultural context of health beliefs about breast cancer. It illuminates the contrasting ways in which genomic knowledge linked to an increased risk of breast cancer is perceived, communicated, and acted upon. It is argued that the particular meaning and significance of genetic risk linked to breast cancer in this context must be examined in relation to long standing institutional practices relating to public health care provision. The focus on 'the family' in the provision of Cuban health provides a particularly viable foundation for the expansion of what is described as 'community genetics', including the collation of family history details for common complex diseases such as breast cancer. Nevertheless specific public perceptions of risk related to breast cancer and the difficulties of discussing a diagnosis of cancer openly in the family point to the very specific challenges for the translation and application of predictive interventions in Cuba. In summary the dynamic interrelationship between public health, perceptions of risk or health beliefs about the causes of the disease and attitudes towards cancer diagnosis within the family point to both continuities and discontinuities in the way that genomic interventions linked to breast cancer are unfolding as part of a dynamic yet still ostensibly socialist project of health care in Cuba. Copyright © 2010 Elsevier Ltd. All rights reserved.

  12. Mixed method systematic review: the relationship between breast cancer risk perception and health-protective behaviour in women with family history of breast cancer.

    Science.gov (United States)

    Paalosalo-Harris, Kati; Skirton, Heather

    2017-04-01

    The aim of this study was to determine and explore the relationship between risk perception and health-protective behaviour in individuals with family history of breast cancer. Women with increased risk of breast cancer due to inherited predisposition can use health-protective behaviours to facilitate prevention or early detection of cancer. Four scientific literature databases (CINAHL, Medline, AMED, PsychInfo) and three systematic review databases were searched. Mixed method systematic review. The systematic review of peer-reviewed literature was conducted following the method described by the Centre of Reviews and Dissemination. Research studies published in English between January 2004-December 2014 focussing on individuals with family history of breast cancer were included. Of 210 papers identified, 10 studies were eligible for inclusion. Studies were assessed for their quality. Due to the diversity of the studies, a three-step analysis was undertaken involving narrative summary of the quantitative data, thematic analysis and presentation of integrated results in narrative form. A clear link between breast cancer risk perception and some health-protective behaviour was identified. Screening administered by health professionals (mammogram screening, chemoprevention) were appropriately adopted. However, behaviours requiring high individual input (breast self-examination, lifestyle changes) were not as appropriately adopted and the decision process was not as clearly linked to risk perception. There is limited understanding about the complex relationship between risk perception and health-protective behaviour. Risk communication and health promotion need to be further developed to assist individuals to better engage with their actual risk and risk-appropriate behaviours, particularly those that require regular personal effort. © 2016 John Wiley & Sons Ltd.

  13. MR-guided intervention in women with a family history of breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    Viehweg, P. [Institute of Diagnostic Radiology, Technical University Dresden, Fetscherstrasse 74, 01307 Dresden (Germany)]. E-mail: Petra.Viehweg@uniklinikum-dresden.de; Bernerth, T. [Department of Diagnostic Radiology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 16, 06097 Halle (Germany); Kiechle, M. [Department of Obstetrics and Gynaecology, Technical University Munich, Ismaninger Strasse 22, 81675 Munich (Germany); Buchmann, J. [Department of Pathology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 14, 06097 Halle (Germany); Heinig, A. [Department of Diagnostic Radiology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 16, 06097 Halle (Germany); Koelbl, H. [Department of Obstetrics and Gynaecology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 24, 06097 Halle (Germany); Laniado, M. [Institute of Diagnostic Radiology, Technical University Dresden, Fetscherstrasse 74, 01307 Dresden (Germany); Heywang-Koebrunner, S.H. [Department of Diagnostic Radiology, Martin-Luther-University Halle-Wittenberg, Magdeburger Strasse 16, 06097 Halle (Germany); Department of Diagnostic Radiology, Technical University Munich, Ismaninger Strasse 19, 81675 Munich (Germany)

    2006-01-15

    Objective: A study was undertaken to assess the clinical value of magnetic resonance (MR) imaging-guided interventions in women with a family history, but no personal history of breast cancer. Methods and patients: Retrospective review was performed on 63 consecutive women who had a family history, but no personal history of breast cancer. A total of 97 lesions were referred for an MR-guided intervention. Standardized MR examinations (1.0 T, T1-weighted 3D FLASH, 0.15 mmol Gd-DTPA/kg body weight, prone position) were performed using a dedicated system which allows vacuum assisted breast biopsy or wire localization. Results: Histologic findings in 87 procedures revealed 9 (10%) invasive carcinomas, 12 (14%) ductal carcinomas in situ, 2 atypical ductal hyperplasias (2.5%) and 2 atypical lobular hyperplasias (2.5%). Sixty-two (71%) benign histologic results are verified by an MR-guided intervention, retrospective correlation of imaging and histology and by subsequent follow-up. In ten lesions the indication dropped since the enhancing lesion was no longer visible. Absent enhancement was confirmed by short-term re-imaging of the noncompressed breast and by follow-up. Conclusion: Malignancy was found in 24%, high-risk lesions in 5% of successfully performed MR-guided biopsy procedures. A 57% of MR-detected malignancies were ductal carcinoma in situ. In 10% of the lesions the intervention was not performed, since no enhancing lesion could be reproduced at the date of anticipated intervention. Such problems may be avoided if the initial MRI is performed in the appropriate phase of the menstrual cycle and without hormonal replacement therapy.

  14. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

    Science.gov (United States)

    Janin, N; Andrieu, N; Ossian, K; Laugé, A; Croquette, M-F; Griscelli, C; Debré, M; Bressac-de-Paillerets, B; Aurias, A; Stoppa-Lyonnet, D

    1999-01-01

    Epidemiological studies in ataxia telangiectasia (AT) families have suggested that AT heterozygotes could have an increased cancer risk, especially breast cancer (BC) in women. It has also been suggested that an increased sensibility of AT heterozygotes to the effect of ionizing radiation could be responsible for the increased BC risk. BC relative risk (RR) estimation in AT heterozygotes within families ascertained through AT children is presented here. Family data collected included demographic characteristics, occurrence of cancers, past radiation exposures and blood samples. DNA samples were studied using seven ATM linked microsatellites markers allowing AT haplotypes reconstitution. The relative risk of BC was assessed using French estimated incidence rates. A significant increase risk of BC is found among obligate ATM heterozygotes with a point estimate of 3.32 (P = 0.002). BC relative risk calculated according to age is significantly increased among the obligate ATM heterozygotes female relatives with an age ≤ 44 years (RR = 4.55, P = 0.005). The BC relative risk is statistically borderline among the obligate ATM heterozygote female relatives with an age ≥ 45 years (RR = 2.48, P = 0.08). The estimated BC relative risk among ATM heterozygotes is consistent with previously published data. However, the increased risk is only a little higher than classical reproductive risk factors and similar to the risk associated with a first-degree relative affected by BC. © 1999 Cancer Research Campaign PMID:10362113

  15. Overrepresentation of transcription factor families in the genesets underlying breast cancer subtypes

    Directory of Open Access Journals (Sweden)

    Joshi Himanshu

    2012-05-01

    Full Text Available Abstract Background The human genome contains a large amount of cis-regulatory DNA elements responsible for directing both spatial and temporal gene-expression patterns. Previous studies have shown that based on their mRNA expression breast tumors could be divided into five subgroups (Luminal A, Luminal B, Basal, ErbB2+ and Normal-like, each with a distinct molecular portrait. Whole genome gene expression analysis of independent sets of breast tumors reveals repeatedly the robustness of this classification. Furthermore, breast tumors carrying a TP53 mutation show a distinct gene expression profile, which is in strong association to the distinct molecular portraits. The mRNA expression of 552 genes, which varied considerably among the different tumors, but little between two samples of the same tumor, has been shown to be sufficient to separate these tumor subgroups. Results We analyzed in silico the transcriptional regulation of genes defining the subgroups at 3 different levels: 1. We studied the pathways in which the genes distinguishing the subgroups of breast cancer may be jointly involved including upstream regulators (1st and 2nd level of regulation as well as downstream targets of these genes. 2. Then we analyzed the promoter areas of these genes (−500 bp tp +100 bp relative to the transcription start site for canonical transcription binding sites using Genomatix. 3. We looked for the actual expression levels of the identified TF and how they correlate with the overrepresentation of their TF binding sites in the separate groups. We report that promoter composition of the genes that most strongly predict the patient subgroups is distinct. The class-predictive genes showed a clearly different degree of overrepresentation of transcription factor families in their promoter sequences. Conclusion The study suggests that transcription factors responsible for the observed expression pattern in breast cancers may lead us to important biological

  16. Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

    Science.gov (United States)

    Osorio, Ana; Endt, Daniela; Fernández, Fernando; Eirich, Katharina; de la Hoya, Miguel; Schmutzler, Rita; Caldés, Trinidad; Meindl, Alfons; Schindler, Detlev; Benitez, Javier

    2012-07-01

    RAD51C was defined by Meindl et al. in 2010 as a high-risk gene involved in hereditary breast and ovarian cancers. Although this role seems to be clear, nowadays there is controversy about the indication of including the gene in routine clinical genetic testing, due to the lower prevalence or the absence of mutations found in subsequent studies. Here, we present the results of a comprehensive mutational screening of the RAD51C gene in a large series of 785 Spanish breast and/or ovarian cancer families, which, in contrast to the various subsequent studies published to date, includes the functional characterization of suspicious missense variants as reported in the initial study. We have detected 1.3% mutations of RAD51C in breast and ovarian cancer families, while mutations in breast cancer only families seem to be very rare. More than half of the deleterious variants detected were of missense type, which highlights their significance in the gene, and suggest that RAD51C mutations may have been so far partially disregarded and their prevalence underestimated due to the lack of functional complementation assays. Our results provide new evidences, suggesting that the genetic testing of RAD51C should be considered for inclusion into the clinical setting, at least for breast and ovarian cancer families, and encourage re-evaluating its role incorporating functional assays.

  17. Tumor characteristics and family history in relation to mammographic density and breast cancer: The French E3N cohort.

    Science.gov (United States)

    Maskarinec, Gertraud; Dartois, Laureen; Delaloge, Suzette; Hopper, John; Clavel-Chapelon, Françoise; Baglietto, Laura

    2017-08-01

    Mammographic density is a known heritable risk factor for breast cancer, but reports how tumor characteristics and family history may modify this association are inconsistent. Dense and total breast areas were assessed using Cumulus™ from pre-diagnostic mammograms for 820 invasive breast cancer cases and 820 matched controls nested within the French E3N cohort study. To allow comparisons across models, percent mammographic density (PMD) was standardized to the distribution of the controls. Odds ratios (OR) and 95% confidence intervals (CI) of breast cancer risk for mammographic density were estimated by conditional logistic regression while adjusting for age and body mass index. Heterogeneity according to tumor characteristic and family history was assessed using stratified analyses. Overall, the OR per 1 SD for PMD was 1.50 (95% CI, 1.33-1.69). No evidence for significant heterogeneity by tumor size, lymph node status, grade, and hormone receptor status (estrogen, progesterone, and HER2) was detected. However, the association of PMD was stronger for women reporting a family history of breast cancer (OR 1SD =2.25; 95% CI, 1.67-3.04) than in women reporting none (OR 1SD =1.41; 95% CI, 1.24-1.60; p heterogeneity =0.002). Similarly, effect modification by FHBC was observed using categories of PMD (p heterogeneity =0.02) with respective ORs of 15.16 (95% CI, 4.23-54.28) vs. 3.14 (95% CI, 1.89-5.22) for ≥50% vs. breast cancer risk with a family history supports the hypothesis of shared genetic factors responsible for familial aggregation of breast cancer and the heritable component of mammographic density. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. General Information about Male Breast Cancer

    Science.gov (United States)

    ... of the breast are also shown. A family history of breast cancer and other factors can increase ... and organs. This is called metastatic cancer. This animation shows how cancer cells travel from the place ...

  19. Treatment Option Overview (Male Breast Cancer)

    Science.gov (United States)

    ... of the breast are also shown. A family history of breast cancer and other factors can increase ... and organs. This is called metastatic cancer. This animation shows how cancer cells travel from the place ...

  20. Pathology of hereditary breast cancer

    OpenAIRE

    van der Groep, Petra; van der Wall, Elsken; van Diest, Paul J.

    2011-01-01

    Background Hereditary breast cancer runs in families where several members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 accounting for about 5% of all breast cancers. Other genes that include CHEK2, PTEN, TP53, ATM, STK11/LKB1, CDH1, NBS1, RAD50, BRIP1 and PALB2 have been described to be high or moderate penetrance breast cancer susceptibility genes, all contributing to the hereditary breast cancer spe...

  1. Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.

    Science.gov (United States)

    Pietschmann, Andrea; Mehdipour, Parvin; Mehdipour, Parvin; Atri, Morteza; Hofmann, Wera; Hosseini-Asl, S Said; Scherneck, Siegfried; Mundlos, Stefan; Peters, Hartmut

    2005-08-01

    Germline mutations in either BRCA1 or BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancers. At present, over thousand distinct BRCA1 and BRCA2 mutations have been identified. Specific mutations are found to be common within particular populations, resulting from genetic founder effects. To investigate the contribution of germline mutations in these two genes to inherited breast cancer in Iran, we performed BRCA1/BRCA2 mutation analyses in ten Iranian high risk breast cancer families. This is the first study analysing the complete coding sequences of both genes that concerns the Iranian population. BRCA1/BRCA2 mutation detection included sequencing of the coding and the 3' and 5' untranslated regions. To detect large genomic rearrangements in the BRCA1 gene semi-quantitative multiplex PCR was performed. Two pathogenic mutations in the BRCA2 gene were detected: a novel deletion c.4415_4418delAGAA and a previously described insertion c.6033_6034insGT. In addition, one intronic variation g.5075-53C > T and a deletion/insertion g.*381_389del9ins29 in the 3' untranslated region of BRCA1 were found in two of the investigated families. Both sequence alterations were absent in an age matched Iranian control group. The BRCA2 homozygous variation p.N372H, previously associated with an increased risk for developing breast cancer, was not identified in this study. We did not detect large genomic rearrangements in BRCA1 in patients tested negatively for disease causing mutations in both genes by standard sequencing. At present, the BRCA2 mutations c.4415_4418delAGAA and c.6033_6034insGT have not been identified in any investigated population except the Iranian. Whether both mutations are specific for the Iranian population or a special subgroup remains to be investigated in larger studies. The absence of BRCA1 mutations in the analysed families may suggest that penetrance or prevalence of BRCA1 mutations may be lower in Iran.

  2. Family medicine, ‘La Herencia’ and breast cancer; understanding the (dis)continuities of predictive genetics in Cuba

    Science.gov (United States)

    Gibbon, Sahra

    2011-01-01

    Building on social science research examining the relationship between genetic knowledge, identity and the family this paper takes the cultural context of Cuba as a site for critical ethnographic engagement. The paper makes use of research working with a range of Cuban publics and genetic professionals as part of a collaborative research project exploring the social and cultural context of health beliefs about breast cancer. It illuminates the contrasting ways in which genomic knowledge linked to an increased risk of breast cancer is perceived, communicated, and acted upon. It is argued that the particular meaning and significance of genetic risk linked to breast cancer in this context must be examined in relation to long standing institutional practices relating to public health care provision. The focus on ‘the family’ in the provision of Cuban health provides a particularly viable foundation for the expansion of what is described as ‘community genetics’, including the collation of family history details for common complex diseases such as breast cancer. Nevertheless specific public perceptions of risk related to breast cancer and the difficulties of discussing a diagnosis of cancer openly in the family point to the very specific challenges for the translation and application of predictive interventions in Cuba. In summary the dynamic interrelationship between public health, perceptions of risk or health beliefs about the causes of the disease and attitudes towards cancer diagnosis within the family point to both continuities and discontinuities in the way that genomic interventions linked to breast cancer are unfolding as part of a dynamic yet still ostensibly socialist project of health care in Cuba. PMID:21239101

  3. Women's acceptance of MRI in breast cancer surveillance because of a familial or genetic predisposition

    NARCIS (Netherlands)

    Essink-Bot, M. L.; Rijnsburger, A. J.; van Dooren, S.; de Koning, H. J.; Seynaeve, C.

    2006-01-01

    Magnetic resonance imaging (MRI) of the breasts is a promising screening modality for early detection in women at increased breast cancer risk. We investigated the subjective experiences with MRI and the preferences for MRI, mammography or clinical breast examination in 178 high-risk women adhering

  4. Breast cancer in systemic lupus

    DEFF Research Database (Denmark)

    Bernatsky, S.; Ramsey-Goldman, R.; Petri, M.

    2017-01-01

    Objective There is a decreased breast cancer risk in systemic lupus erythematosus (SLE) versus the general population. We assessed a large sample of SLE patients, evaluating demographic and clinical characteristics and breast cancer risk. Methods We performed case-cohort analyses within a multi......-center international SLE sample. We calculated the breast cancer hazard ratio (HR) in female SLE patients, relative to demographics, reproductive history, family history of breast cancer, and time-dependent measures of anti-dsDNA positivity, cumulative disease activity, and drugs, adjusted for SLE duration. Results...... There were 86 SLE breast cancers and 4498 female SLE cancer-free controls. Patients were followed on average for 7.6 years. Versus controls, SLE breast cancer cases tended to be white and older. Breast cancer cases were similar to controls regarding anti-dsDNA positivity, disease activity, and most drug...

  5. Predicted anti-oestrogen resistance in BRCA-associated familial breast cancers.

    Science.gov (United States)

    Osin, P; Gusterson, B A; Philp, E; Waller, J; Bartek, J; Peto, J; Crook, T

    1998-10-01

    There is controversy concerning the prognosis of breast cancers arising in women carrying loss of function mutations in the breast cancer susceptibility genes BRCA1 and BRCA2. This study was carried out to assess the likely hormone dependence of this group of tumours in comparison with an age and grade matched group of control sporadic tumours. We used quantitative immunohistochemical analysis for the oestrogen receptor (ER), progesterone receptor (PgR), cyclin D1 and pS2 on sections of primary tumours and ductal carcinoma in situ (DCIS). Expression of PgR (P < 0.05) and cyclin D1 (P < 0.01) was low in the BRCA1- and BRCA2-associated cancers compared with sporadic cases. The low frequency of expression of ER (9/40), PgR (2/40) cyclin D1 (5/36) and pS2 (5/36) in the familial tumours indicates that the majority of such tumours will be oestrogen insensitive and unlikely to respond to hormonal manipulation even at the in situ stage in their evolution. The low level of PgR (2/40 cases) suggests that there may be some abnormality of transactivating function of the ER in these tumours.

  6. Breast Cancer Overview

    Science.gov (United States)

    ... are here Home > Types of Cancer > Breast Cancer Breast Cancer This is Cancer.Net’s Guide to Breast Cancer. Use the menu below to choose the Overview/ ... social workers, and patient advocates. Cancer.Net Guide Breast Cancer Introduction Statistics Medical Illustrations Risk Factors and Prevention ...

  7. Breast Cancer -- Male

    Science.gov (United States)

    ... Home > Types of Cancer > Breast Cancer in Men Breast Cancer in Men This is Cancer.Net’s Guide to Breast Cancer in Men. Use the menu below to choose ... social workers, and patient advocates. Cancer.Net Guide Breast Cancer in Men Introduction Statistics Risk Factors and Prevention ...

  8. The Impact of the Implementation of the Empowerment Family-Centered Model on the Symptom Scales of the Lives Quality of Women with Breast Cancer Undergoing Chemotherapy

    OpenAIRE

    Sayedeh Maryam Hosseini; Fatemeh Joonbakhsh; Arash KHalili; Saeedeh Almasi; Hengameh Shirvani

    2016-01-01

    Introduction: Breast cancer is the most common cancer to affect women's quality of life is severely ill. One way to improve the health and quality of life, patient family-centered empowerment and their families to counter the effects of disease and more dominant on disease and life. This study aimed to evaluate the impact of the implementation of the empowerment family-centered model on the symptom scales of the lives quality of women with breast cancer undergoing chemotherapy. Methods: A ...

  9. Breast density as indicator for the use of mammography or MRI to screen women with familial risk for breast cancer (FaMRIsc: a multicentre randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Saadatmand Sepideh

    2012-10-01

    Full Text Available Abstract Background To reduce mortality, women with a family history of breast cancer often start mammography screening at a younger age than the general population. Breast density is high in over 50% of women younger than 50 years. With high breast density, breast cancer incidence increases, but sensitivity of mammography decreases. Therefore, mammography might not be the optimal method for breast cancer screening in young women. Adding MRI increases sensitivity, but also the risk of false-positive results. The limitation of all previous MRI screening studies is that they do not contain a comparison group; all participants received both MRI and mammography. Therefore, we cannot empirically assess in which stage tumours would have been detected by either test. The aim of the Familial MRI Screening Study (FaMRIsc is to compare the efficacy of MRI screening to mammography for women with a familial risk. Furthermore, we will assess the influence of breast density. Methods/Design This Dutch multicentre, randomized controlled trial, with balanced randomisation (1:1 has a parallel grouped design. Women with a cumulative lifetime risk for breast cancer due to their family history of ≥20%, aged 30–55 years are eligible. Identified BRCA1/2 mutation carriers or women with 50% risk of carrying a mutation are excluded. Group 1 receives yearly mammography and clinical breast examination (n = 1000, and group 2 yearly MRI and clinical breast examination, and mammography biennially (n = 1000. Primary endpoints are the number and stage of the detected breast cancers in each arm. Secondary endpoints are the number of false-positive results in both screening arms. Furthermore, sensitivity and positive predictive value of both screening strategies will be assessed. Cost-effectiveness of both strategies will be assessed. Analyses will also be performed with mammographic density as stratification factor. Discussion Personalized breast cancer screening

  10. No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families

    DEFF Research Database (Denmark)

    Nielsen, Henriette Roed; Petersen, Janne; Krogh, Lotte

    2016-01-01

    In families screened for mutations in the BRCA1 or BRCA2 genes and found to have a segregating mutation the breast cancer risk for women shown not to carry the family-specific mutation might be at above "average" risk. We assessed the risk of breast cancer in a clinic based cohort of 725 female...... proven noncarriers in 239 BRCA1 and BRCA2 families compared with birth-matched controls from the Danish Civil Registration System. Prospective analysis showed no significantly increased risk for breast cancer in noncarriers with a hazard ratio of 0.67 [95 % confidence interval (CI) 0.32-1.42, p = 0.......29] for all family members who tested negative and 0.87 (95 % CI 0.38-1.97, p = 0.73) for non-carries who were first-degree relatives of mutation carriers. Proven noncarriers from BRCA1 and BRCA2 families have no markedly increased risk for breast cancer compared to the general population, and our data do...

  11. Hereditary breast cancer

    DEFF Research Database (Denmark)

    Larsen, Martin J; Thomassen, Mads; Gerdes, Anne-Marie

    2014-01-01

    Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight...... into the tumor biology to guide the search of new high-risk alleles and provide better classification of the growing number of BRCA1/2 variants of unknown significance (VUS). In this review, we provide an overview of hereditary breast cancer, its genetic background, and clinical implications, before focusing...... on the pathologically and molecular features associated with the disease. Recent transcriptome and genome profiling studies of tumor series from BRCA1/2 mutation carriers as well as familial non-BRCA1/2 will be discussed. Special attention is paid to its association with molecular breast cancer subtypes as well...

  12. 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.

  13. 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...

  14. Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study.

    Science.gov (United States)

    Hanning, Kirstie A; Steel, Michael; Goudie, David; McLeish, Lorna; Dunlop, Jackie; Myring, Jessica; Sullivan, Frank; Berg, Jonathan; Humphris, Gerry; Ozakinci, Gozde

    2015-10-01

    Personal and family data forms, completed by women referred to breast cancer genetics clinics, are valuable tools for verification and extension of family history, crucial steps in accurate risk evaluation. A significant minority of women do not complete and return these forms, despite reminders, even when completion is a pre-requisite for a clinic appointment. To facilitate access of women at increased familial risk of breast cancer to screening and counselling services by investigating reasons for non-return of the forms. Based on a single regional 'breast cancer family' service in the UK, Analysis of quantitative data comparing women who did not return forms (n = 55) with those who had done so (n = 59), together with qualitative evaluation of potential barriers to form-completion through semi-structured telephone interviews with a random subset of 'non-returners' (n = 23). Non-returners have higher proportions of the very young (below the age at which surveillance could be offered) and of women from lower social deprivation categories. Interviews revealed that the majority of non-returners are anxious, rather than unconcerned about their breast cancer risk and circumstances and attitudes contributed to non-compliance. Twenty-one participants confirmed that they would welcome an appointment at a 'breast cancer family' clinic, but nine did not attend for the appointment. They were significantly younger than those who attend, but were not at lower familial risk. Many women who fail to complete and return a family history form would benefit from risk assessment and genetic counselling. Several steps are suggested that might help them access the relevant services. © 2014 John Wiley & Sons Ltd.

  15. 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).

  16. The integrative role of leptin, oestrogen and the insulin family in obesity-associated breast cancer: potential effects of exercise

    Science.gov (United States)

    Schmidt, S; Monk, J M; Robinson, L E; Mourtzakis, M

    2015-01-01

    Obesity is an established risk factor for postmenopausal breast cancer. The mechanisms through which obesity influences the development and progression of breast cancer are not fully elucidated; however, several factors such as increased oestrogen, concentrations of various members of the insulin family and inflammation that are associated with adiposity are purported to be important factors in this relationship. Emerging research has also begun to focus on the role of adipokines, (i.e. adipocyte secreted factors), in breast cancer. Leptin secretion is directly related to adiposity and is believed to promote breast cancer directly and independently, as well as through involvement with the oestrogen and insulin signalling pathways. As leptin is secreted from white adipose tissue, any intervention that reduces adiposity may be favourable. However, it is also important to consider that energy expenditure through exercise, independent of fat loss, may improve leptin regulation. The purpose of this narrative review was to explore the role of leptin in breast cancer development and progression, identify key interactions with oestrogen and the insulin family, and distinguish the potential effects of exercise on these interactions. PMID:25875578

  17. Do attitude toward cancer, sense of coherence and family high risk predict more psychological distress in women referred for a breast cancer examination?

    Science.gov (United States)

    Gilbar, Ora

    2003-01-01

    The study focuses on the connection between attitude toward cancer, sense of coherence and family history of breast cancer, on the one hand, and psychological distress on the other among women who are referred for breast cancer examination following a medical examination prompted by a complaint of "feeling something in the breast." A sample of 314 women referred to a breast health clinic in northern Israel completed questionnaires that measured psychological distress (Brief Symptom Inventory), personal resources (the Sense of Coherence Scale), and mindset (Attitude to Cancer Treatment Scale). A weak sense of coherence and a more negative attitude toward cancer (i.e., viewing victims of cancer with pity; viewing the illness as a death sentence; harboring a fear of death from cancer) predict a high level of psychological distress while awaiting an examination. A family history of breast cancer, or a first-time examination, were not found to be predictors of greater psychological distress. Learning cognitive behavioral coping skills, as well as access to information on cancer and treatment in order to change attitude toward cancer, are needed.

  18. Two different BRCA2 mutations found in a multigenerational family with a history of breast, prostate, and lung cancers

    Directory of Open Access Journals (Sweden)

    Caporale DA

    2014-06-01

    Full Text Available Diane A Caporale, Erica E SwensonDepartment of Biology, University of Wisconsin – Stevens Point, Stevens Point, WI, USAAbstract: Breast and lung cancer are two of the most common malignancies in the United States, causing approximately 40,000 and 160,000 deaths each year, respectively. Over 80% of hereditary breast cancer cases are due to mutations in two breast cancer predisposition genes, BRCA1 and BRCA2. These are tumor-suppressor genes associated with DNA repair. Since the discovery of these two genes in the mid-1990s, several other breast cancer predisposition genes have been identified, such as the CHEK2 gene encoding a regulator of BRCA1. Recently, studies have begun investigating the roles of BRCA1 and BRCA2 gene expression in lung cancer. We conducted a family-based case study that included a bloodline of Italian heritage with several cases of breast cancer and associated cancers (prostate and stomach through multiple generations and on a nonblood relative of Scottish/Irish descent who was consecutively diagnosed with breast and lung cancer. Cancer history and environmental risk factors were recorded for each family member. To investigate possible genetic risks, we screened for mutations in specific hypervariable regions of the BRCA1, BRCA2, and CHEK2 genes. DNA was extracted and isolated from the individuals' hair follicles and cheek cells. Polymerase chain reaction (PCR, allele-specific PCR, and DNA sequencing were performed to identify and verify the presence or absence of mutations in these regions. Genotypes of several family members were determined and carriers of mutations were identified. Here we report for the first time the occurrence of two different BRCA2 frameshift mutations within the same family. Specifically, three Italian family members were found to be carriers of the BRCA2-c.2808_2811delACAA (3036delACAA mutation, a 4-nucleotide deletion in exon 11, which is a truncated mutation that causes deleterious function of

  19. Male Breast Cancer

    Science.gov (United States)

    Although breast cancer is much more common in women, men can get it too. It happens most often to men between ... 60 and 70. Breast lumps usually aren't cancer. However, most men with breast cancer have lumps. ...

  20. Breast Cancer Trends

    Science.gov (United States)

    ... 2011 Funding: Increasing Awareness and Support Among Young Women with Breast Cancer Funding: Young Breast Cancer Survivors Funding: Breast Cancer Genomics Statistics Rates by Race and Ethnicity Rates by State ...

  1. Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

    Science.gov (United States)

    Tavera-Tapia, A; Pérez-Cabornero, L; Macías, J A; Ceballos, M I; Roncador, G; de la Hoya, M; Barroso, A; Felipe-Ponce, V; Serrano-Blanch, R; Hinojo, C; Miramar-Gallart, M D; Urioste, M; Caldés, T; Santillan-Garzón, S; Benitez, J; Osorio, A

    2017-02-01

    There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX). A case-control association study was performed to establish its prevalence in Spanish population, in a series of 1477 BRCAX families and 589 controls further screened, and NGS panels were used for ATM mutational screening in a cohort of 392 HBOC Spanish BRCAX families and 350 patients affected with diseases not related to breast cancer. Although the interrogated mutation was not prevalent in case-control association study, a comprehensive mutational analysis of the ATM gene revealed 1.78% prevalence of mutations in the ATM gene in HBOC and 1.94% in breast cancer-only BRCAX families in Spanish population, where data about ATM mutations were very limited. ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility.

  2. Breast Cancer Surgery

    Science.gov (United States)

    FACTS FOR LIFE Breast Cancer Surgery The goal of breast cancer surgery is to remove the whole tumor from the breast. Some lymph nodes ... might still be in the body. Types of breast cancer surgery There are two types of breast cancer ...

  3. HER family kinase domain mutations promote tumor progression and can predict response to treatment in human breast cancer

    KAUST Repository

    Boulbes, Delphine R.

    2014-11-11

    Resistance to HER2-targeted therapies remains a major obstacle in the treatment of HER2-overexpressing breast cancer. Understanding the molecular pathways that contribute to the development of drug resistance is needed to improve the clinical utility of novel agents, and to predict the success of targeted personalized therapy based on tumor-specific mutations. Little is known about the clinical significance of HER family mutations in breast cancer. Because mutations within HER1/EGFR are predictive of response to tyrosine kinase inhibitors (TKI) in lung cancer, we investigated whether mutations in HER family kinase domains are predictive of response to targeted therapy in HER2-overexpressing breast cancer. We sequenced the HER family kinase domains from 76 HER2-overexpressing invasive carcinomas and identified 12 missense variants. Patients whose tumors carried any of these mutations did not respond to HER2 directed therapy in the metastatic setting. We developed mutant cell lines and used structural analyses to determine whether changes in protein conformation could explain the lack of response to therapy. We also functionally studied all HER2 mutants and showed that they conferred an aggressive phenotype and altered effects of the TKI lapatinib. Our data demonstrate that mutations in the finely tuned HER kinase domains play a critical function in breast cancer progression and may serve as prognostic and predictive markers.

  4. Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry.

    Science.gov (United States)

    Dite, Gillian S; MacInnis, Robert J; Bickerstaffe, Adrian; Dowty, James G; Allman, Richard; Apicella, Carmel; Milne, Roger L; Tsimiklis, Helen; Phillips, Kelly-Anne; Giles, Graham G; Terry, Mary Beth; Southey, Melissa C; Hopper, John L

    2016-02-01

    The extent to which clinical breast cancer risk prediction models can be improved by including information on known susceptibility SNPs is not known. Using 750 cases and 405 controls from the population-based Australian Breast Cancer Family Registry who were younger than 50 years at diagnosis and recruitment, respectively, Caucasian and not BRCA1 or BRCA2 mutation carriers, we derived absolute 5-year risks of breast cancer using the BOADICEA, BRCAPRO, BCRAT, and IBIS risk prediction models and combined these with a risk score based on 77 independent risk-associated SNPs. We used logistic regression to estimate the OR per adjusted SD for log-transformed age-adjusted 5-year risks. Discrimination was assessed by the area under the receiver operating characteristic curve (AUC). Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test. We also constructed reclassification tables and calculated the net reclassification improvement. The ORs for BOADICEA, BRCAPRO, BCRAT, and IBIS were 1.80, 1.75, 1.67, and 1.30, respectively. When combined with the SNP-based score, the corresponding ORs were 1.96, 1.89, 1.80, and 1.52. The corresponding AUCs were 0.66, 0.65, 0.64, and 0.57 for the risk prediction models, and 0.70, 0.69, 0.66, and 0.63 when combined with the SNP-based score. By combining a 77 SNP-based score with clinical models, the AUC for predicting breast cancer before age 50 years improved by >20%. Our estimates of the increased performance of clinical risk prediction models from including genetic information could be used to inform targeted screening and prevention. ©2015 American Association for Cancer Research.

  5. Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study.

    Science.gov (United States)

    Johnson, Nichola; Fletcher, Olivia; Naceur-Lombardelli, Cristina; dos Santos Silva, Isabel; Ashworth, Alan; Peto, Julian

    The allele CHEK2*1100delC doubles the risk of breast cancer in unselected women, but could confer a greater risk in women with a family history of the disease, particularly of bilateral breast cancer. Our aim was to measure the risk of breast cancer in relatives of women with bilateral breast cancer who were carriers of this allele. A population-based series of 469 bilateral breast cancer cases ascertained through English cancer registries were genotyped for CHEK2*1100delC. Standardised incidence ratios (SIRs) and cumulative risks were calculated for breast cancer, prostate cancer, and all other cancers in the first-degree relatives of carriers and non-carriers. The relatives of bilateral cases who were wild-type for CHEK2 had three times the population risk of female breast cancer (145 cases: SIR 3.48 (95% CI 2.96-4.09), twice the risk of prostate cancer (34 cases: SIR 2.41, 1.67-3.36) and a large excess of male breast cancer (five cases: SIR 15.06, 4.92-35.36). Relatives of those who were carriers of CHEK2*1100delC had a substantially higher risk of breast cancer (eight cases: SIR 12.11, 5.23-23.88) and possibly prostate cancer (two cases: SIR 9.87, 1.20-35.67). These data suggest a multiplicative interaction between CHEK2*1100delC and other unknown susceptibility genes. In women with a family history of bilateral disease, CHEK2*1100delC confers a high lifetime risk and might be useful for predictive testing. Bilateral breast cancer cases and their families are likely to provide an efficient basis for identification of additional low-penetrance breast-cancer genes.

  6. Breast cancer in pregnancy.

    Science.gov (United States)

    Krishna, Iris; Lindsay, Michael

    2013-09-01

    Pregnancy-associated breast cancer is defined as breast cancer diagnosed during pregnancy or in the first postpartum year. Breast cancer is one of the more common malignancies to occur during pregnancy and, as more women delay childbearing, the incidence of breast cancer in pregnancy is expected to increase. This article provides an overview of diagnosis, staging, and treatment of pregnancy-associated breast cancer. Recommendations for management of breast cancer in pregnancy are discussed. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Search for new breast cancer susceptibility genes

    NARCIS (Netherlands)

    Oldenburg, Rogier Abel

    2008-01-01

    This thesis describes the search for new high-risk breast cancer susceptibility genes by linkage analysis. To date 20-25% of familial breast cancer is explained by mutations in the high-risk BRCA1 and BRCA2 breast cancer susceptibility genes. For the remaining families the genetic etiology is

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

    Directory of Open Access Journals (Sweden)

    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

  9. Breast cancer in Kurdish women of northern Iraq: incidence, clinical stage, and case control analysis of parity and family risk.

    Science.gov (United States)

    Majid, Runnak A; Mohammed, Hazha A; Saeed, Heshu M; Safar, Banaz M; Rashid, Rekawt M; Hughson, Michael D

    2009-12-11

    Breast cancer in the Middle-East occurs in relatively young women and frequently presents as advanced disease. A protective effect of multiparity is not apparent, and high familial risk is reported in some countries. This study investigates breast cancer rates and clinical stage related to age in the Kurdish region of Iraq and evaluates risk associated with parity and family history. Findings are compared with nearby countries and the West. Sulaimaniyah Directorate of Health records identified 539 women diagnosed with breast cancer during 2006-2008. Clinical survey forms were completed on 296 patients and on 254 age-matched controls. Age specific incidence rates were calculated from Directorate of Health population estimates. Average patient age was 47.4 +/- 11 years and 59.5% were pre-menopausal. Diagnosis was at clinical stage 1 for 4.1%, stage 2 for 43.5%, stage 3 for 26.0%, and stage 4 for 8.1% of patients. For 18.2%, stage was unknown. Annual breast cancer incidence rates per 100,000 women peaked at 168.9 at age 55 to 59 and declined to 57.3 at 60 and above. Patients had an average of 5.0 +/- 3.3 children compared to 5.4 +/- 3.5 for controls, P = 0.16. A first degree family member had breast cancer among 11.1% of patients and 2.1% of controls (P 50% of these patients and controls being > or =50 years old. No statistically significant relationship was found between tumor stage and age, P = 0.59. In Kurdish Iraq, breast cancer is predominantly a disease of pre-menopausal women having multiple pregnancies. For younger patients, breast cancer incidence was similar to the West and possibly higher than many Middle-Eastern countries, but unlike the West, the estimated rates declined markedly in the elderly. The familial breast cancer risk for both older and younger women was within the general population risk of Western countries. Clinical stages were advanced and indicated delays in diagnosis that were unrelated to patient age.

  10. Breast cancer in kurdish women of northern Iraq: incidence, clinical stage, and case control analysis of parity and family risk

    Directory of Open Access Journals (Sweden)

    Safar Banaz M

    2009-12-01

    Full Text Available Abstract Background Breast cancer in the Middle-East occurs in relatively young women and frequently presents as advanced disease. A protective effect of multiparity is not apparent, and high familial risk is reported in some countries. This study investigates breast cancer rates and clinical stage related to age in the Kurdish region of Iraq and evaluates risk associated with parity and family history. Findings are compared with nearby countries and the West. Methods Sulaimaniyah Directorate of Health records identified 539 women diagnosed with breast cancer during 2006-2008. Clinical survey forms were completed on 296 patients and on 254 age-matched controls. Age specific incidence rates were calculated from Directorate of Health population estimates. Results Average patient age was 47.4 ± 11 years and 59.5% were pre-menopausal. Diagnosis was at clinical stage 1 for 4.1%, stage 2 for 43.5%, stage 3 for 26.0%, and stage 4 for 8.1% of patients. For 18.2%, stage was unknown. Annual breast cancer incidence rates per 100,000 women peaked at 168.9 at age 55 to 59 and declined to 57.3 at 60 and above. Patients had an average of 5.0 ± 3.3 children compared to 5.4 ± 3.5 for controls, P = 0.16. A first degree family member had breast cancer among 11.1% of patients and 2.1% of controls (P 50% of these patients and controls being ≥50 years old. No statistically significant relationship was found between tumor stage and age, P = 0.59. Conclusions In Kurdish Iraq, breast cancer is predominantly a disease of pre-menopausal women having multiple pregnancies. For younger patients, breast cancer incidence was similar to the West and possibly higher than many Middle-Eastern countries, but unlike the West, the estimated rates declined markedly in the elderly. The familial breast cancer risk for both older and younger women was within the general population risk of Western countries. Clinical stages were advanced and indicated delays in diagnosis that were

  11. MRI screening for breast cancer in women with familial or genetic predisposition : design of the Dutch National Study (MRISC)

    NARCIS (Netherlands)

    Kriege, M; Brekelmans, C T; Boetes, C; Rutgers, E J; Oosterwijk, J C; Tollenaar, R A; Manoliu, R A; Holland, R; de Koning, H J; Klijn, J G

    2001-01-01

    Mammography screening of women aged 50-70 years for breast cancer has proven to be effective in reducing breast cancer mortality. There is no consensus about the value of breast cancer screening in women aged 40-49 years. Five to ten per cent of all breast cancers are hereditary. One of the options

  12. BCL-2 family protein, BAD is down-regulated in breast cancer and inhibits cell invasion

    Energy Technology Data Exchange (ETDEWEB)

    Cekanova, Maria, E-mail: mcekanov@utk.edu [Department of Small Animal Clinical Sciences, College of Veterinary Medicine, The University of Tennessee, Knoxville, TN (United States); Fernando, Romaine I. [Department of Obstetrics and Gynecology, Graduate School of Medicine, Medical Center, The University of Tennessee, Knoxville, TN (United States); Siriwardhana, Nalin [Department of Animal Science, The University of Tennessee, Knoxville, TN (United States); Sukhthankar, Mugdha [Department of Biomedical and Diagnostics Sciences, College of Veterinary Medicine, The University of Tennessee, Knoxville, TN (United States); Parra, Columba de la [Department of Biochemistry, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR (United States); Woraratphoka, Jirayus [Department of Obstetrics and Gynecology, Graduate School of Medicine, Medical Center, The University of Tennessee, Knoxville, TN (United States); Malone, Christine [Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, Research Triangle Park, NC (United States); Ström, Anders [Center for Nuclear Receptors and Cell Signaling, Department of Biology and Biochemistry, University of Houston, Houston, TX (United States); Baek, Seung J. [Department of Biomedical and Diagnostics Sciences, College of Veterinary Medicine, The University of Tennessee, Knoxville, TN (United States); Wade, Paul A. [Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, Research Triangle Park, NC (United States); Saxton, Arnold M. [Department of Animal Science, The University of Tennessee, Knoxville, TN (United States); Donnell, Robert M. [Department of Biomedical and Diagnostics Sciences, College of Veterinary Medicine, The University of Tennessee, Knoxville, TN (United States); Pestell, Richard G. [Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA (United States); and others

    2015-02-01

    We have previously demonstrated that the anti-apoptotic protein BAD is expressed in normal human breast tissue and shown that BAD inhibits expression of cyclin D1 to delay cell-cycle progression in breast cancer cells. Herein, expression of proteins in breast tissues was studied by immunohistochemistry and results were analyzed statistically to obtain semi-quantitative data. Biochemical and functional changes in BAD-overexpressing MCF7 breast cancer cells were evaluated using PCR, reporter assays, western blotting, ELISA and extracellular matrix invasion assays. Compared to normal tissues, Grade II breast cancers expressed low total/phosphorylated forms of BAD in both cytoplasmic and nuclear compartments. BAD overexpression decreased the expression of β-catenin, Sp1, and phosphorylation of STATs. BAD inhibited Ras/MEK/ERK and JNK signaling pathways, without affecting the p38 signaling pathway. Expression of the metastasis-related proteins, MMP10, VEGF, SNAIL, CXCR4, E-cadherin and TlMP2 was regulated by BAD with concomitant inhibition of extracellular matrix invasion. Inhibition of BAD by siRNA increased invasion and Akt/p-Akt levels. Clinical data and the results herein suggest that in addition to the effect on apoptosis, BAD conveys anti-metastatic effects and is a valuable prognostic marker in breast cancer. - Highlights: • BAD and p-BAD expressions are decreased in breast cancer compared with normal breast tissue. • BAD impedes breast cancer invasion and migration. • BAD inhibits the EMT and transcription factors that promote cancer cell migration. • Invasion and migration functions of BAD are distinct from the BAD's role in apoptosis.

  13. 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.

  14. Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

    DEFF Research Database (Denmark)

    Hansen, Thomas V O; Jønson, Lars; Steffensen, Ane Y

    2011-01-01

    Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1...... and BRCA2 in high risk breast and/or ovarian cancer families. The mutations were detected via pre-screening using dHPLC or high-resolution melting and direct sequencing. We identified 16 variants in BRCA1, including 9 deleterious frame-shift mutations, 2 intronic variants, 4 missense mutations, and 1...... synonymous variant. The remaining 24 variants were identified in BRCA2, including 10 deleterious mutants (6 frame-shift and 4 nonsense), 2 intronic variants, 10 missense mutations and 2 synonymous variants. The frequency of the variants of unknown significance was examined in control individuals. Moreover...

  15. Coping With Breast Cancer at the Nexus of Religiosity and Hawaiian Culture: Perspectives of Native Hawaiian Survivors and Family Members

    Science.gov (United States)

    Ka'opua, Lana Sue I.; Mitschke, Diane B.; Kloezeman, Karen C.

    2010-01-01

    This article describes research to develop a breast health intervention for women in Hawaiian churches. Native Hawaiian women are disproportionately burdened by breast disease and tend to be diagnosed at advanced stages when treatment options are more limited. Research suggests that cultural conflict may be a factor in Hawaiian women's underutilization of conventional health services. Phenomenological approaches guided data collection and analysis to explore the influence of religiosity and ethnocultural tradition in coping with breast cancer. The overarching theme was kakou (we or us), which emphasized ways of coping oriented to the family collective and focused on family well-being. Findings offer a portal for understanding the lived experience of survivors and families in Hawaiian churches. Considerations are suggested for those practitioners assisting clients from collectivist-oriented cultures. PMID:20835303

  16. Treatment Option Overview (Breast Cancer)

    Science.gov (United States)

    ... of Breast & Gynecologic Cancers Breast Cancer Screening Research Breast Cancer Treatment (PDQ®)–Patient Version General Information About Breast Cancer Go to Health Professional Version Key Points Breast ...

  17. General Information about Breast Cancer

    Science.gov (United States)

    ... of Breast & Gynecologic Cancers Breast Cancer Screening Research Breast Cancer Treatment (PDQ®)–Patient Version General Information About Breast Cancer Go to Health Professional Version Key Points Breast ...

  18. Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.

    Science.gov (United States)

    Kast, Karin; Rhiem, Kerstin; Wappenschmidt, Barbara; Hahnen, Eric; Hauke, Jan; Bluemcke, Britta; Zarghooni, Verena; Herold, Natalie; Ditsch, Nina; Kiechle, Marion; Braun, Michael; Fischer, Christine; Dikow, Nicola; Schott, Sarah; Rahner, Nils; Niederacher, Dieter; Fehm, Tanja; Gehrig, Andrea; Mueller-Reible, Clemens; Arnold, Norbert; Maass, Nicolai; Borck, Guntram; de Gregorio, Nikolaus; Scholz, Caroline; Auber, Bernd; Varon-Manteeva, Raymonda; Speiser, Dorothee; Horvath, Judit; Lichey, Nadine; Wimberger, Pauline; Stark, Sylvia; Faust, Ulrike; Weber, Bernhard H F; Emons, Gunter; Zachariae, Silke; Meindl, Alfons; Schmutzler, Rita K; Engel, Christoph

    2016-07-01

    To characterise the prevalence of pathogenic germline mutations in BRCA1 and BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Data from 21 401 families were gathered between 1996 and 2014 in a clinical setting in the German Consortium for Hereditary Breast and Ovarian Cancer, comprising full pedigrees with cancer status of all individual members at the time of first counselling, and BRCA1/2 mutation status of the index patient. The overall BRCA1/2 mutation prevalence was 24.0% (95% CI 23.4% to 24.6%). Highest mutation frequencies were observed in families with at least two OCs (41.9%, 95% CI 36.1% to 48.0%) and families with at least one breast and one OC (41.6%, 95% CI 40.3% to 43.0%), followed by male BC with at least one female BC or OC (35.8%; 95% CI 32.2% to 39.6%). In families with a single case of early BC (<36 years), mutations were found in 13.7% (95% CI 11.9% to 15.7%). Postmenopausal unilateral or bilateral BC did not increase the probability of mutation detection. Occurrence of premenopausal BC and OC in the same woman led to higher mutation frequencies compared with the occurrence of these two cancers in different individuals (49.0%; 95% CI 41.0% to 57.0% vs 31.5%; 95% CI 28.0% to 35.2%). Our data provide guidance for healthcare professionals and decision-makers to identify individuals who should undergo genetic testing for hereditary breast and ovarian cancer. Moreover, it supports informed decision-making of counselees on the uptake of genetic testing. 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/

  19. The Potential Contribution of BRCA Mutations to Early Onset and Familial Breast Cancer in Uzbekistan

    Directory of Open Access Journals (Sweden)

    Abdulla Abdikhakimov

    2016-12-01

    Conclusion: This preliminary evidence suggests a potential contribution of BRCA1 5382insC mutation to breast cancer development in Uzbek population. Taking into account a high disease penetrance in carriers of BRCA1 mutation, it seems reasonable to recommend inclusion of the 5382insC mutation test in future research on the development of screening programs for breast cancer prevention in Uzbekistan.

  20. Occupational exposure and risk of breast cancer

    OpenAIRE

    Fenga, Concettina

    2016-01-01

    Breast cancer is a multifactorial disease and the most commonly diagnosed cancer in women. Traditional risk factors for breast cancer include reproductive status, genetic mutations, family history and lifestyle. However, increasing evidence has identified an association between breast cancer and occupational factors, including environmental stimuli. Epidemiological and experimental studies demonstrated that ionizing and non-ionizing radiation exposure, night-shift work, pesticides, polycyclic...

  1. Family history in breast cancer in São Luís, Maranhão, Brazil.

    Science.gov (United States)

    Ribeiro, Maria Hilda Araújo; da Silva, Marcos Antonio Custódio Neto; Muniz Filho, Walbert Edson; Nascimento, Anna Cyntia Brandão; Souza, Rodrigo Duart Martins; Machado, Carlos Eduardo Everton; Silva, Dulcelena Ferreira; de Barros Bezerra, Geusa Felipa; de Castro Viana, Graça Maria; Soares Brandão Nascimento, Maria do Desterro

    2016-03-10

    Familial cancer includes some types of cancer aggregation without a well-defined inheritance pattern. Cancer genetics is an essential component of clinical practice in oncology. In Brazil, breast cancer is the leading cause of death in women. In Maranhão, studies on genetic predisposition are necessary to investigate the incidence and mortality rates. The aim of this study was to investigate familial cancer among relatives of women who died of breast cancer in São Luís, Brazil, constructing a pedigree to identify families with a hereditary predisposition, an important step in the early diagnosis of malignant tumors. The city of São Luís is located on the Island of Maranhão, northeastern Brazil, with a population of 997,098 inhabitants mainly comprising blacks and mulattoes, including descendants of runaway slaves from the Amazon region itself. Data for pedigree construction were obtained from the records of 54 patients seen at the Aldenora Bello Institute of Oncology, São Luís, between 2000 and 2007, as well as by interview with relatives of the patients. The mean patient age at diagnosis was 39.5 years. Most women were mulattoes (36/54, 66.6%). A history of cancer was observed in 18 families, with 16 families possessing cases of cancer among first-degree relatives and five among second-degree relatives. A concentration of cancer cases was found in families of patients diagnosed until the age of 40, a finding demonstrating the importance of a family history prior to genetic counseling.

  2. 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.

  3. Breast Cancer Disparities

    Science.gov (United States)

    ... 2.65 MB] Read the MMWR Science Clips Breast Cancer Black Women Have Higher Death Rates from Breast ... of Page U.S. State Info Number of Additional Breast Cancer Deaths Among Black Women, By State SOURCE: National ...

  4. Inflammatory Breast Cancer

    Science.gov (United States)

    ... breast cancer correctly. Their recommendations are summarized below. Minimum criteria for a diagnosis of inflammatory breast cancer ... Initial biopsy samples from the affected breast show invasive carcinoma. Further examination of tissue from the affected ...

  5. Evaluation of the Quality of Life of Female Family Caregivers of Patients with Breast Cancer in Iran (2013

    Directory of Open Access Journals (Sweden)

    Masoumeh Hashemian

    2017-01-01

    Full Text Available Background & aim: Family caregivers of cancer patients are at a high risk of physical, psychological and emotional problems, which could adversely affect their quality of life. This study aimed to evaluate the quality of life of the female caregivers of breast cancer patients in Sabzevar, Iran. Methods: This cross-sectional study was conducted on 105 participants in Sabzevar, Iran in 2013. Subjects were selected via purposive sampling, and required data were collected using the Caregiver Quality of Life Index-Cancer (CQOLC scale, which was completed by the family caregivers of breast cancer patients through interviews. Data analysis was performed in SPSS version 20 using independent t-test, analysis of variance, Pearson’s correlation-coefficient, and stepwise multiple regression analysis. Results: Mean age of the participants was 36.9±10.9 years, and total mean score of quality of life was 55.48±10.87. The highest score was observed in the subscale of “lifestyle disruption” (mean: 66.14±17.31, while the lowest score belonged to the subscale of “emotional/mental burden” (mean: 49.43±18.49. Total mean score of quality of life in the sisters of breast cancer patients was 4.678 units higher compared to the caregivers who were the daughter of the patients. Moreover, total mean score of quality of life in breast cancer patients with no insurance was 5.457 scores lower compared to those with insurance. Conclusion: According to the results of this study, emotional and psychological needs of the female caregivers of patients with breast cancer (as informal caregivers must be considered in developing related educational programs for the formal caregivers of these patients, especially mental health nurses.

  6. Breast cancer in men

    Science.gov (United States)

    ... in situ - male; Intraductal carcinoma - male; Inflammatory breast cancer - male; Paget disease of the nipple - male; Breast cancer - male ... The cause of breast cancer in men is not clear. But there are risk factors that make breast cancer more likely in men: Exposure to ...

  7. Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases

    NARCIS (Netherlands)

    Bakker, Janine L.; van Mil, Saskia E.; Crossan, Gerry; Sabbaghian, Nelly; de Leeneer, Kim; Poppe, Bruce; Adank, Muriel; Gille, Hans; Verheul, Henk; Meijers-Heijboer, Hanne; de Winter, Johan P.; Claes, Kathleen; Tischkowitz, Marc; Waisfisz, Quinten

    2013-01-01

    SLX4/FANCP is a recently discovered novel disease gene for Fanconi anemia (FA), a rare recessive disorder characterized by chromosomal instability and increased cancer susceptibility. Three of the 15 FA genes are breast cancer susceptibility genes in heterozygous mutation carriers-BRCA2, PALB2, and

  8. Breast cancer and pregnancy.

    Science.gov (United States)

    Knabben, Laura; Mueller, Michel D

    2017-08-29

    Background In the past decades the incidence of pregnancy-associated breast cancer (PABC) increased. Possible explanations are the trend to postpone childbearing and the general increase in the incidence of breast cancer. Materials and methods A sytematic review of the literature was performed with the aim to report on incidence, diagnosis, treatment and prognosis of breast cancer during pregnancy. We also cover the issue of pregnancy following a diagnosis of breast cancer including fertility preservation and prognosis. Results Ultrasound is the imaging method of choice in pregnancy, but mammography can also be performed as the fetal irradiation dose is low. To avoid a delay in diagnosis every sonographic mass in pregnant women which does not clearly correspond to a cyst needs further investigation by biopsy. Treatment should follow as close as possible the guidelines for non-pregnant patients. Administration of chemotherapy is possible after the first trimester. There is a large body of evidence for the use of anthracyclines. In contrast radiotherapy, trastuzumab and antihormonal treatment by tamoxifen are contraindicated during pregnancy. Pregnancy does not seem to influence prognosis. Most adverse obstetric outcomes are related to preterm delivery, which should therefore, whenever possible, be avoided. Young patients with breast cancer and incomplete family planning should be referred for counseling about fertility preservation options before the initiation of adjuvant treatment. A pregnancy following breast cancer does not have a negative impact on prognosis. Conclusion Multidisciplinary management of women with breast cancer in pregnancy is mandatory and data should be collected to allow further improvement in management.

  9. Imaging male breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    Doyle, S., E-mail: sdoyle2@nhs.net [Primrose Breast Care Unit, Derriford Hospital, Plymouth (United Kingdom); Steel, J.; Porter, G. [Primrose Breast Care Unit, Derriford Hospital, Plymouth (United Kingdom)

    2011-11-15

    Male breast cancer is rare, with some pathological and radiological differences from female breast cancer. There is less familiarity with the imaging appearances of male breast cancer, due to its rarity and the more variable use of preoperative imaging. This review will illustrate the commonest imaging appearances of male breast cancer, with emphasis on differences from female breast cancer and potential pitfalls in diagnosis, based on a 10 year experience in our institution.

  10. The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

    Science.gov (United States)

    2012-01-01

    Introduction While it has been reported that the risk of contralateral breast cancer in patients from BRCA1 or BRCA2 positive families is elevated, little is known about contralateral breast cancer risk in patients from high risk families that tested negative for BRCA1/2 mutations. Methods A retrospective, multicenter cohort study was performed from 1996 to 2011 and comprised 6,235 women with unilateral breast cancer from 6,230 high risk families that had tested positive for BRCA1 (n = 1,154) or BRCA2 (n = 575) mutations or tested negative (n = 4,501). Cumulative contralateral breast cancer risks were calculated using the Kaplan-Meier product-limit method and were compared between groups using the log-rank test. Cox regression analysis was applied to assess the impact of the age at first breast cancer and the familial history stratified by mutation status. Results The cumulative risk of contralateral breast cancer 25 years after first breast cancer was 44.1% (95%CI, 37.6% to 50.6%) for patients from BRCA1 positive families, 33.5% (95%CI, 22.4% to 44.7%) for patients from BRCA2 positive families and 17.2% (95%CI, 14.5% to 19.9%) for patients from families that tested negative for BRCA1/2 mutations. Younger age at first breast cancer was associated with a higher risk of contralateral breast cancer. For women who had their first breast cancer before the age of 40 years, the cumulative risk of contralateral breast cancer after 25 years was 55.1% for BRCA1, 38.4% for BRCA2, and 28.4% for patients from BRCA1/2 negative families. If the first breast cancer was diagnosed at the age of 50 or later, 25-year cumulative risks were 21.6% for BRCA1, 15.5% for BRCA2, and 12.9% for BRCA1/2 negative families. Conclusions Contralateral breast cancer risk in patients from high risk families that tested negative for BRCA1/2 mutations is similar to the risk in patients with sporadic breast cancer. Thus, the mutation status should guide decision making for contralateral mastectomy. PMID

  11. Interleukin-19 in Breast Cancer

    Directory of Open Access Journals (Sweden)

    Ying-Yin Chen

    2013-01-01

    Full Text Available Inflammatory cytokines within the tumor microenvironment are linked to progression in breast cancer. Interleukin- (IL- 19, part of the IL-10 family, contributes to a range of diseases and disorders, such as asthma, endotoxic shock, uremia, psoriasis, and rheumatoid arthritis. IL-19 is expressed in several types of tumor cells, especially in squamous cell carcinoma of the skin, tongue, esophagus, and lung and invasive duct carcinoma of the breast. In breast cancer, IL-19 expression is correlated with increased mitotic figures, advanced tumor stage, higher metastasis, and poor survival. The mechanisms of IL-19 in breast cancer have recently been explored both in vitro and in vivo. IL-19 has an autocrine effect in breast cancer cells. It directly promotes proliferation and migration and indirectly provides a microenvironment for tumor progression, which suggests that IL-19 is a prognostic marker in breast cancer and that antagonizing IL-19 may have therapeutic potential.

  12. Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia.

    Science.gov (United States)

    Atshemyan, Sofi; Chavushyan, Andranik; Berberian, Nerses; Sahakyan, Arthur; Zakharyan, Roksana; Arakelyan, Arsen

    2017-01-01

    Background. Breast cancer is one of the most common cancers in women worldwide. The germline mutations of the BRCA1 and BRCA2 genes are the most significant and well characterized genetic risk factors for hereditary breast cancer. Intensive research in the last decades has demonstrated that the incidence of mutations varies widely among different populations. In this study we attempted to perform a pilot study for identification and characterization of mutations in BRCA1 and BRCA2 genes among Armenian patients with family history of breast cancer and their healthy relatives.  Methods. We performed targeted exome sequencing for BRCA1 and BRCA2 genes in 6 patients and their healthy relatives. After alignment of short reads to the reference genome, germline single nucleotide variation and indel discovery was performed using GATK software. Functional implications of identified variants were assessed using ENSEMBL Variant Effect Predictor tool.  Results. In total, 39 single nucleotide variations and 4 indels were identified, from which 15 SNPs and 3 indels were novel. No known pathogenic mutations were identified, but 2 SNPs causing missense amino acid mutations had significantly increased frequencies in the study group compared to the 1000 Genome populations.  Conclusions. Our results demonstrate the importance of screening of BRCA1 and BRCA2 gene variants in the Armenian population in order to identity specifics of mutation spectrum and frequencies and enable accurate risk assessment of hereditary breast cancers.

  13. SRC family kinases as novel therapeutic targets to treat breast cancer brain metastases.

    Science.gov (United States)

    Zhang, Siyuan; Huang, Wen-Chien; Zhang, Lin; Zhang, Chenyu; Lowery, Frank J; Ding, Zhaoxi; Guo, Hua; Wang, Hai; Huang, Suyun; Sahin, Aysegul A; Aldape, Kenneth D; Steeg, Patricia S; Yu, Dihua

    2013-09-15

    Despite better control of early-stage disease and improved overall survival of patients with breast cancer, the incidence of life-threatening brain metastases continues to increase in some of these patients. Unfortunately, other than palliative treatments there is no effective therapy for this condition. In this study, we reveal a critical role for Src activation in promoting brain metastasis in a preclinical model of breast cancer and we show how Src-targeting combinatorial regimens can treat HER2(+) brain metastases in this model. We found that Src was hyperactivated in brain-seeking breast cancer cells derived from human cell lines or from patients' brain metastases. Mechanistically, Src activation promoted tumor cell extravasation into the brain parenchyma via permeabilization of the blood-brain barrier. When combined with the EGFR/HER2 dual-targeting drug lapatinib, an Src-targeting combinatorial regimen prevented outgrowth of disseminated breast cancer cells through the induction of cell-cycle arrest. More importantly, this combinatorial regimen inhibited the outgrowth of established experimental brain metastases, prolonging the survival of metastases-bearing mice. Our results provide a rationale for clinical evaluation of Src-targeting regimens to treat patients with breast cancer suffering from brain metastasis. ©2013 AACR.

  14. HABP2 p.G534E variant in patients with family history of thyroid and breast cancer

    DEFF Research Database (Denmark)

    Pinheiro, Maísa; Drigo, Sandra Aparecida; Tonhosolo, Renata

    2017-01-01

    ) revealing HABP2 p.G534E. Sanger sequencing was used to confirm the involvement of this variant in three families (F1: 7 relatives; F2: 3 and F3: 3). The proband and his sister (with no malignant tumor so far) from F1 were homozygous for the variant whereas one relative with PTC from F2 was negative......Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES...

  15. Expression of proteins involved in DNA damage response in familial and sporadic breast cancer patients.

    Science.gov (United States)

    Partipilo, Giulia; Simone, Giovanni; Scattone, Anna; Scarpi, Emanuela; Azzariti, Amalia; Mangia, Anita

    2016-01-01

    Understanding the expression of proteins involved in DNA damage response could improve knowledge of the pathways that contribute to familial and sporadic breast cancer (BC). We aimed to assess the different roles of BRCA1, poly(ADP-ribose) polymerase-1 (PARP1), BRCT-repeat inhibitor of hTERT expression (BRIT1) and novel SWItch 5 (SWI5) expression in 130 sporadic and 73 familial BC samples, by immunohistochemistry. In the sporadic group, negative nuclear BRCA1 (nBRCA1) expression was associated with positive PgR (p = 0.037). Negative association was found between nBRCA1 expression and HER2 (p = 0.001). In the familial group, nBRCA1 expression was associated with ER (p = 0.002). Reduced nBRCA1 expression was associated with higher histological grade and positive Ki67 both in sporadic (p = 0.0010, p = 0.047) and familial groups (p < 0.001, p = 0.001). Nuclear PARP1 (nPARP1) expression was associated with histological grade (p = 0.035) and positive PgR (p = 0.047) in sporadic cases. High cytoplasmic and low nuclear BRIT1 (cBRIT1 and nBRIT1) expression were associated with high histological grade in the familial group (p = 0.013, p = 0.025). Various statistical associations between the protein expressions were observed in the sporadic group, while in familial group only few associations were found. Univariate analyses showed that nPARP1 expression is able to discriminate between sporadic and familial tumors (OR 2.80, p = 0.002). Multivariate analyses proved that its overexpression is an independent factor associated with a high risk of sporadic tumor (OR 2.96, p = 0.017). Our findings indicate that nPARP1 expression is an independent factor for sporadic BCs and PARP1 inhibitors could be a promising therapy for different phenotypes. © 2015 UICC.

  16. 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.

  17. Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics::a dual cohort study

    OpenAIRE

    Evans, Dafydd; Astley, Susan; Stavrinos, Paula; Harkness, Elaine; Donnelly, Louise S; Dawe, Sarah; Jacob, Ian; Harvie, Michelle; Cuzick, Jack; Brentnall, Adam R.; Wilson, Mary; Harrison, Fiona; Payne, Katherine; Howell, Anthony

    2016-01-01

    Background: In the UK, women are invited for 3-yearly mammography screening, through the NHS Breast Screening Programme (NHSBSP), from the ages of 47–50 years to the ages of 69–73 years. Women with family histories of breast cancer can, from the age of 40 years, obtain enhanced surveillance and, in exceptionally high-risk cases, magnetic resonance imaging. However, no NHSBSP risk assessment is undertaken. Risk prediction models are able to categorise women by risk using known risk factors, al...

  18. 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.

  19. A case-control study to assess the impact of mammographic density on breast cancer risk in women aged 40-49 at intermediate familial risk.

    Science.gov (United States)

    Assi, Valentina; Massat, Nathalie J; Thomas, Susan; MacKay, James; Warwick, Jane; Kataoka, Masako; Warsi, Iqbal; Brentnall, Adam; Warren, Ruth; Duffy, Stephen W

    2015-05-15

    Mammographic density is a strong risk factor for breast cancer, but its potential application in risk management is not clear, partly due to uncertainties about its interaction with other breast cancer risk factors. We aimed to quantify the impact of mammographic density on breast cancer risk in women aged 40-49 at intermediate familial risk of breast cancer (average lifetime risk of 23%), in particular in premenopausal women, and to investigate its relationship with other breast cancer risk factors in this population. We present the results from a case-control study nested with the FH01 cohort study of 6,710 women mostly aged 40-49 at intermediate familial risk of breast cancer. One hundred and three cases of breast cancer were age-matched to one or two controls. Density was measured by semiautomated interactive thresholding. Absolute density, but not percent density, was a significant risk factor for breast cancer in this population after adjusting for area of nondense tissue (OR per 10 cm(2) = 1.07, 95% CI 1.00-1.15, p = 0.04). The effect was stronger in premenopausal women, who made up the majority of the study population. Absolute density remained a significant predictor of breast cancer risk after adjusting for age at menarche, age at first live birth, parity, past or present hormone replacement therapy, and the Tyrer-Cuzick 10-year relative risk estimate of breast cancer. Absolute density can improve breast cancer risk stratification and delineation of high-risk groups alongside the Tyrer-Cuzick 10-year relative risk estimate. © 2014 UICC.

  20. Reduced expression of miR-200 family members contributes to antiestrogen resistance in LY2 human breast cancer cells.

    Directory of Open Access Journals (Sweden)

    Tissa T Manavalan

    Full Text Available INTRODUCTION: The role of miRNAs in acquired endocrine-resistant breast cancer is not fully understood. One hallmark of tumor progression is epithelial-to-mesenchymal transition (EMT, characterized by a loss of cell adhesion resulting from reduced E-cadherin and increased cell mobility. miR-200 family members regulate EMT by suppressing expression of transcriptional repressors ZEB1/2. Previously we reported that the expression of miR-200a, miR-200b, and miR-200c was lower in LY2 endocrine-resistant, mesenchymal breast cancer cells compared to parental, endocrine sensitive, epithelial MCF-7 breast cancer cells. Here we investigated the regulation of miR-200 family members and their role in endocrine-sensitivity in breast cancer cells. RESULTS: miR-200 family expression was progressively reduced in a breast cancer cell line model of advancing endocrine/tamoxifen (TAM resistance. Concomitant with miR-200 decrease, there was an increase in ZEB1 mRNA expression. Overexpression of miR-200b or miR-200c in LY2 cells altered cell morphology to a more epithelial appearance and inhibited cell migration. Further, miR-200b and miR-200c overexpression sensitized LY2 cells to growth inhibition by estrogen receptor (ER antagonists TAM and fulvestrant. Knockdown of ZEB1 in LY2 cells recapitulated the effect of miR-200b and miR-200c overexpression resulting in inhibition of LY2 cell proliferation by TAM and fulvestrant, but not the aromatase inhibitor exemestane. Demethylating agent 5-aza-2'-deoxycytidine (5-aza-dC in combination with histone deacetylase inhibitor trichostatin A (TSA increased miR-200b and miR-200c in LY2 cells. Concomitant with the increase in miR-200b and miR-200c, ZEB1 expression was decreased and cells appeared more epithelial in morphology and were sensitized to TAM and fulvestrant inhibition. Likewise, knockdown of ZEB1 increased antiestrogen sensitivity of LY2 cells resulting in inhibition of cell proliferation. CONCLUSIONS: Our data

  1. Benign Breast Disease: Toward Molecular Prediction of Breast Cancer Risk

    Science.gov (United States)

    2006-06-01

    at the initial biopsy, the strength of the family history, meno- pausal status, and histologic findings of the biop- sy, as compared with expected...breast cancers for 646/758 (85%) of the cases. We assessed the significance of benign histology in predicting risk of future breast cancer, examining...TERMS Benign Breast Disease, Biomarkers, Histology , Breast Cancer 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF ABSTRACT 18. NUMBER OF

  2. Exploring the requirements for a decision aid on familial breast cancer in the UK context: a qualitative study with patients referred to a cancer genetics service.

    NARCIS (Netherlands)

    Iredale, R.; Rapport, F.; Sivell, S.; Jones, W.; Edwards, A.; Gray, J.; Elwyn, G.

    2008-01-01

    RATIONALE: Patients concerned about a family history of breast cancer can face difficult decisions about screening, prophylactic surgery and genetic testing. Decision aids can facilitate patient decision making and currently include leaflets and computerized tools. These are largely aimed at the

  3. Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.

    Science.gov (United States)

    Li, Jun; Li, Hongyan; Makunin, Igor; Thompson, Bryony A; Tao, Kayoko; Young, Erin L; Lopez, Jacqueline; Camp, Nicola J; Tavtigian, Sean V; John, Esther M; Andrulis, Irene L; Khanna, Kum Kum; Goldgar, David; Chenevix-Trench, Georgia

    2017-12-01

    The main aim of this study was to screen epigenetic modifier genes and known breast cancer driver genes for germline mutations in non-BRCA1/2 (BRCAx) breast cancer families in order to identify novel susceptibility genes of moderate-high penetrance. We screened 264 candidate susceptibility genes in 656 index cases from non-BRCA1/2 families. Potentially pathogenic candidate mutations were then genotyped in all available family members for the assessment of co-segregation of the variant with disease in the family in order to estimate the breast cancer risks associated with these mutations. For 11 of the candidate susceptibility genes, we screened an additional 800 non-BRCA1/2 breast cancer cases and 787 controls. Only two genes, CHD8 and USH2A showed any evidence of an increased risk of breast cancer (RR = 2.40 (95% CI 1.0-7.32) and 2.48 (95% CI 1.11-6.67), respectively). We found no convincing evidence that epigenetic modifier and known breast cancer driver genes carry germline mutations that increase breast cancer risk. USH2A is no longer regarded as a breast cancer driver gene and seems an implausible candidate given its association with Usher syndrome. However, somatic mutations in CHD8 have been recently reported, making it an even more promising candidate, but further analysis of CHD8 in very large cohorts of families or case-control studies would be required to determine if it is a moderate-risk breast cancer susceptibility gene.

  4. Stages of Male Breast Cancer

    Science.gov (United States)

    ... Breast & Gynecologic Cancers Breast Cancer Screening Research Male Breast Cancer Treatment (PDQ®)–Patient Version General Information about Male Breast Cancer Go to Health Professional Version Key Points Male ...

  5. Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

    Science.gov (United States)

    Hellebrand, Heide; Sutter, Christian; Honisch, Ellen; Gross, Eva; Wappenschmidt, Barbara; Schem, Christian; Deissler, Helmut; Ditsch, Nina; Gress, Verena; Kiechle, Marion; Bartram, Claus R; Schmutzler, Rita K; Niederacher, Dieter; Arnold, Norbert; Meindl, Alfons

    2011-06-01

    The Partner and Localizer of BRCA2 (PALB2) protein has been linked to Fanconi anemia and breast cancer predisposition. Here we present data of a comprehensive mutation screening of the PALB2 gene in 818 familial cases of breast cancer from Germany. By analyzing the entire coding region of PALB2, we found seven truncating mutations (six of them novel) in families tested negative for BRCA1/2-mutations. In addition, two novel potentially disease causing missense mutations were found. Remarkably, only one mutation reported previously in other populations, was also identified in the German population. No PALB2 mutation carriers were identified in 450 unaffected controls. Thus, our observations indicate a low prevalence of deleterious PALB2 mutations and a specific mutation profile within the German population. As PALB2-deficient tumors were shown to be sensitive to Poly(ADP-ribose) Polymerase (PARP) inhibitors, our study has implications for newly developed, favorable treatment options in familial breast cancer. © 2011 Wiley-Liss, Inc.

  6. Beating Breast Cancer

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Breast Cancer Beating Breast Cancer Past Issues / Winter 2017 Table of Contents Melanie ... Her mother had died at age 49 of breast cancer after three battles with the disease. Ovarian cancer ...

  7. Tamoxifen for Breast Cancer

    Directory of Open Access Journals (Sweden)

    A Karn

    2010-03-01

    Full Text Available Breast cancer is one of the common cancers. Hormonal therapy along with surgery, chemotherapy, radiotherapy and targeted therapy are vital modalities for the management of breast cancer. Tamoxifen has been the most widely used hormonal therapy for more than two decades. In this article we review the benefits, dose, duration and timing of Tamoxifen therapy in patients with breast cancer. Keywords: breast cancer, hormonal therapy, tamoxifen.

  8. Detection of Breast Cancer: Knowledge, Attitude, and Practice of Family Health Strategy Women.

    Science.gov (United States)

    de Oliveira, Rosy Denyse Pinheiro; Santos, Míria Conceição Lavinas; Moreira, Camila Brasil; Fernandes, Ana Fátima Carvalho

    2017-03-14

    In rural area, control of breast cancer is related to health promotion and early diagnosis, which includes knowledge, awareness, and stimulating behavioral change, emphasizing screening for disease. The present study was developed to assess the knowledge, attitude, and practice of rural women about early detection of breast cancer in the Primary Health Care Centre. This is a cross-sectional study in a Primary Health Care Centre with 243 rural women participating in the public health service. Data collection was made by a self-administered questionnaire which included sociodemographic characteristics, questions on breast cancer risk factors, screening, and diagnostic methods. Marks were attributed to each question and calculated for each section. Participants fell in three categories of knowledge, attitude, and practice: appropriate, regular and inappropriate. Knowledge, attitude, and practice of early detection methods were considered especially appropriate for those rural women with education and higher economic level, but inadequate responses to such methods were still significant. It is noted that there is still a significant number of rural women who do not have basic knowledge regarding early detection methods of breast cancer, contributing to the non-realization of these methods, as its advocates.

  9. Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome.

    Science.gov (United States)

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2014-12-01

    Cancer genetics has rapidly evolved in the last two decades. Understanding and exploring the several genetic pathways in the cancer cell is the foundation of targeted therapy. Several genomic aberrations have been identified and their role in carcinogenesis is being explored. In contrast to most cancers where these mutations are acquired, patients with hereditary cancer syndromes have inherited genomic aberrations. The understanding of the molecular pathobiology in hereditary cancer syndromes has advanced dramatically. In addition, many molecularly targeted therapies have been developed that could have potential roles in the treatment of patients with hereditary cancer syndromes. In this review, we outline the presentation, molecular biology, and possible targeted therapies for two of the most widely recognized hereditary cancer syndromes -- hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colorectal cancer syndrome (Lynch syndrome). We will also discuss other syndromes such as familial adenomatous polyposis and Li-Fraumeni syndrome (TP53).

  10. 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

  11. Mutational analysis ofBRCA1andBRCA2genes in Peruvian families with hereditary breast and ovarian cancer.

    Science.gov (United States)

    Buleje, Jose; Guevara-Fujita, Maria; Acosta, Oscar; Huaman, Francia D P; Danos, Pierina; Murillo, Alexis; Pinto, Joseph A; Araujo, Jhajaira M; Aguilar, Alfredo; Ponce, Jaime; Vigil, Carlos; Castaneda, Carlos; Calderon, Gabriela; Gomez, Henry L; Fujita, Ricardo

    2017-09-01

    Breast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due to BRCA1 and BRCA2 germline mutations. We performed a comprehensive analysis of BRCA1 and BRCA2 genes by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to detect large rearrangements in patients from 18 families, which met the criteria for hereditary breast cancer. In this series, we found four pathogenic mutations, three previously reported ( BRCA1 : c.302-1G>C and c.815_824dup10; BRCA2 : c.5946delT) and a duplication of adenines in exon 15 in BRCA1 gene (c.4647_4648dupAA, ClinVar SCV000256598.1). We also found two exonic and four intronic variants of unknown significance and 28 polymorphic variants. This is the first report to determine the spectrum of mutations in the BRCA1/BRCA2 genes in Peruvian families selected by clinical and genetic criteria. The alteration rate in BRCA1/BRCA2 with proven pathogenic mutation was 22.2% (4 out 18) and this finding could be influenced by the reduced sample size or clinical criteria. In addition, we found three known BRCA1/BRCA2 mutations and a BRCA1 c.4647_4648dupAA as a novel pathogenic mutation.

  12. Six low-penetrance SNPs for the estimation of breast cancer heritability: A family-based study in Caucasian Italian patients.

    Science.gov (United States)

    De Summa, Simona; Graziano, Francesca; Pilato, Brunella; Pinto, Rosamaria; Danza, Katia; Lacalamita, Rosanna; Serratì, Simona; Sambiasi, Domenico; Grassi, Mario; Tommasi, Stefania

    2017-10-01

    Breast cancer is a malignancy with a strong heritable component. Genetic counseling has been principally focused on families carrying high-penetrance breast cancer 1/2, early onset genes. Current modeling suggests that the majority of the unexplained fraction of familial risk is likely to be explained by a polygenic model. The aim of the present study was to estimate the heritability (h 2 ) of breast cancer susceptibility through the analysis of 6 single nucleotide polymorphisms (SNPs), nuclear mitotic apparatus protein 1, cyclin D1, cytochrome C oxidase copper chaperone, fibroblast growth factor receptor 2, TOX high mobility group box family member 3 and solute carrier family 4 member 7. These 6 SNPs, previously identified by genome-wide association studies, were considered to evaluate the additive and common environmental components that contribute to the development of breast cancer in nuclear (pedigrees including only first degree relationships) and in extended families (with at most third degree relationships). A total of 22 extended pedigrees, subsequently split into 52 nuclear pedigrees were analyzed. An example of splitting process from extended to nuclear pedigree is shown in Fig. 1. Firstly, an underline latent continuous trait ( Y *) using breast cancer status and information of 6 breast cancer-associated SNPs was calculated. This novel trait summarized the susceptibility of breast cancer in each individual. Secondly, the h 2 of Y * was estimated using an additive polygenic-common environment-unique error model. h 2 was evaluated in extended and immediate pedigrees, obtaining comparable results. h 2 accounts for ~40% of the total phenotypic variance, indicating a fairly strong additive genetic effect of breast cancer susceptibility. The present study indicated the importance of the evaluation and consideration of these six SNPs, which can be used as instrumental variables in order to obtain improved genetic models that are useful for h 2 analysis.

  13. Risk of Breast Cancer Associated with Reproductive and Fertility Factors According to a Family History of Breast Cancer

    Science.gov (United States)

    1999-10-01

    tyrosine kinase domain were found in 35% of the cases: 8% at codon 768 or 790 in exon cluded: Renal oncocytoma in 10 patients; papillary renal ...analysis of the RET proto-oncogene In 200 French MEN 2 families: a Renal Neoplasms In a Familial Multisystem Syndrome with Fibrofolliculomas asotpa...we recognized a subset of families with 13, 14, 15 and 16 of RET in the germline DNA of 200 MEN 2 families. RET mutations renal tumors who were also

  14. Breast cancer staging

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000911.htm Breast cancer staging To use the sharing features on this ... Once your health care team knows you have breast cancer , they will do more tests to stage it. ...

  15. HEREDITARY BREAST CANCER

    Directory of Open Access Journals (Sweden)

    E. M. Bit-Sava

    2013-01-01

    Full Text Available Hereditary breast cancer occurs in 5–20 % of cases and it is associated with inherited mutations in particular genes, such as BRCA1 и BRCA2 in most cases. The CHEK2, PTEN, TP53, ATM, RAD51, BLM, PALB2, Nbs genes are associated with low and median risks ofdeveloping breast cancer. Molecular genetic studies identify germinal mutations underlying hereditary breast cancer. In most cases hereditary breast cancer refers to triple-negative phenotype, which is the most aggressive type of breast cancer, that does not express the genes for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 (HER2. The review presents the diagnostic and treatment methods of hereditary breast cancer. Clinical-morphological aspects allow the new diagnostic and treatment methods of hereditary breast cancer to be identified. Poly (ADP-ribose polymerase (PARP inhibitors demonstrate the potential for effective treatment of BRCA-associated breast cancer.

  16. Breast Cancer and Infertility

    Directory of Open Access Journals (Sweden)

    Guluzar Arzu Turan

    2015-09-01

    Full Text Available Breast cancer is the most common malignancy among women and may accompany infertility. The relationship between infertility treatment and breast cancer has not yet been proven. However, estrogen exposure is well known to cause breast cancer. Recent advances in treatment options have provided young patients with breast cancer a chance of being mother [Archives Medical Review Journal 2015; 24(3.000: 317-323

  17. The Nuclear Death Domain Protein p84N5; a Candidate Breast Cancer Susceptibility Gene

    National Research Council Canada - National Science Library

    Godwin, Andrew

    2004-01-01

    ...% of all cases of breast cancer exhibit a familial pattern of incidence. Efforts to identify the genetic basis of familial breast cancer reached fruition some years ago, when the breast-cancer susceptibility genes, BRCAl and BRCA2 were identified...

  18. The Nuclear Death Domain Protein p84N5; a Candidate Breast Cancer Susceptibility Gene

    National Research Council Canada - National Science Library

    Godwin, Andrew

    2005-01-01

    ...% of all cases of breast cancer exhibit a familial pattern of incidence. Efforts to identify the genetic basis of familial breast cancer reached fruition some years ago, when the breast cancer susceptibility genes, BRCA1 and BRCA2 were identified...

  19. 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...

  20. Role of let-7 family microRNA in breast cancer

    Directory of Open Access Journals (Sweden)

    Chadrashekar Kagepura Thammaiah

    2016-10-01

    Full Text Available Metastasis and resistance to therapy significantly contribute to cancer-related deaths. Growing body of evidence suggest that altered expression of microRNAs (miRNAs is one of the root cause of adverse clinical outcome. miRNAs such as let-7 are the new fine tuners of signaling cascade and cellular processes which regulates the genes in post-transcriptional manner. In this review, we described the regulation of let-7 expression and the involvement of molecular factors in this process. We discussed the mechanism by which let-7 alter the expression of genes involved in the process of tumorigenesis. Further, we listed the pathways targeted by let-7 to reduce the burden of the tumor. In addition, we described the role of let-7 in breast cancer metastasis and stemness properties. This article will provide the in-depth insight into the biology of let-7 miRNA and its role in the breast cancer progression. Keywords: miRNA, Let-7, Breast cancer, Metastasis, Stemness

  1. Magnetic resonance imaging of invasive breast cancer

    African Journals Online (AJOL)

    G5

    graphic findings, and screening for breast cancer in younger women with familial breast cancer. Interpretation of MR images requires a meticulous imaging technique including the use of contrast enhancement and fat suppression MR sequences using a good breast coil. Introduction. The role of MR imaging in the diagno-.

  2. Breast Cancer (For Kids)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Breast Cancer KidsHealth / For Kids / Breast Cancer What's in this ... for it when they are older. What Is Breast Cancer? The human body is made of tiny building ...

  3. High use of complementary and alternative medicine among a large cohort of women with a family history of breast cancer: the Sister Study.

    Science.gov (United States)

    Greenlee, Heather; Sardo Molmenti, Christine L; Falci, Laura; Ulmer, Ross; Deming-Halverson, Sandra; DeRoo, Lisa A; Sandler, Dale P

    2016-04-01

    Use of complementary and alternative medicine (CAM) is high among U.S. women, yet information is limited on use among women at increased breast cancer risk. We analyzed CAM use among women with a family history of breast cancer. CAM use was analyzed among women enrolled 2003-2009 in the Sister Study cohort. Eligible women were aged 35-74, U.S. or Puerto Rican residents, no personal history of breast cancer, and had ≥1 sister with breast cancer. Baseline data on CAM use in the past year were available for 49,734 women. Logistic regression models examined the association between CAM use and Gail Model breast cancer risk score. Results were compared to female participants in the 2007 National Health Interview Survey (n = 7965). Among Sister Study participants, there was high use of vitamin/mineral supplements (79 %), mind-body practices (41 %), manipulative/body-based practices (32 %), and botanicals (23 %). Overall use was higher than the U.S. female population. No association was observed between familial breast cancer risk and CAM use. Black women were more likely to use spirituality/meditation-based CAM modalities, while non-Hispanic white and Asian women were high users of dietary supplements. In a cohort of women with increased breast cancer risk due to family history, CAM use is higher than women in the general U.S. population and is associated with race/ethnicity. Use was not associated with breast cancer risk. Given the high prevalence of CAM use among women at risk for breast caner, research on the effectiveness of CAM use for disease prevention is needed.

  4. CHEK2 1100delC and polygenic susceptibility to breast cancer and colorectal cancer

    NARCIS (Netherlands)

    M. Wasielewski (Marijke)

    2009-01-01

    textabstractApproximately 15-25% of breast cancers are identified in women with a family history of breast cancer. Yet, germline mutations in the currently known breast cancer susceptibility genes account for only one-third of familial breast cancer cases. In 2002, our research group had identified

  5. Screening for Breast Cancer.

    Science.gov (United States)

    Niell, Bethany L; Freer, Phoebe E; Weinfurtner, Robert Jared; Arleo, Elizabeth Kagan; Drukteinis, Jennifer S

    2017-11-01

    The goal of screening is to detect breast cancers when still curable to decrease breast cancer-specific mortality. Breast cancer screening in the United States is routinely performed with mammography, supplemental digital breast tomosynthesis, ultrasound, and/or MR imaging. This article aims to review the most commonly used breast imaging modalities for screening, discuss how often and when to begin screening with specific imaging modalities, and examine the pros and cons of screening. By the article's end, the reader will be better equipped to have informed discussions with patients and medical professionals regarding the benefits and disadvantages of breast cancer screening. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Most Breast Cancer Patients Have Help Choosing Treatments

    Science.gov (United States)

    ... medlineplus.gov/news/fullstory_167104.html Most Breast Cancer Patients Have Help Choosing Treatments Support system can be ... cancer don't go it alone. Many breast cancer patients depend on family and friends to help them ...

  7. Breast asymmetry and predisposition to breast cancer

    OpenAIRE

    Scutt, D; Lancaster, GA; Manning, JT

    2006-01-01

    INTRODUCTION: It has been shown in our previous work that breast asymmetry is related to several of the known risk factors for breast cancer, and that patients with diagnosed breast cancer have more breast volume asymmetry, as measured from mammograms, than age-matched healthy women. METHODS: In the present study, we compared the breast asymmetry of women who were free of breast disease at time of mammography, but who had subsequently developed breast cancer, with that of age-matched healthy ...

  8. Investigation of single-strand conformational polymorphism of the TP53 gene in women with a family history of breast cancer

    Directory of Open Access Journals (Sweden)

    R.R. Burbano

    2000-11-01

    Full Text Available Breast cancer in families with germ line mutations in the TP53 gene has been described in the medical literature. Mutation screening for susceptibility genes should allow effective prophylactic and preventive measures. Using single-strand conformational polymorphism, we screened for mutations in exons 5, 6, 7 and 8 of gene TP53 in the peripheral blood of 8 young non-affected members (17 to 36 years old of families with a history of breast cancer. Studies of this type on young patients (mean age, 25 years are very rare in the literature. The identification of these mutations would contribute to genetic counseling of members of families with predisposition to breast cancer. The results obtained did not show any polymorphism indicating mutation. In our sample, the familial tumorigenesis is probably related to other gene etiologies.

  9. Breast Cancer: A preventable disease

    Directory of Open Access Journals (Sweden)

    Zoya Tahergorabi

    2014-08-01

    Full Text Available With regard to high cancer incidence, as one of the major mortality causes worldwide, following human societies industrialization in recent years breast cancer, dealt with in the present article, has got a particular impact on women who possess a pivotal role in family and society. Thus, adoption of effective diagnostic procedures in the early stages of the disease is very important, which must be considered as a substantial component of the strategies aimed at women’s health promotion and decreasing of breast cancer mortality rate. Meanwhile, women’s education and their awareness promotion and advising them to carry out different methods of breast cancer screening in the early stages of the symptoms, as preventive measures, play important roles. The present review article attempts to study prevalence and epidemiology of breast cancer, its risk factors and its different stages of prevention.

  10. Breast Cancer Rates by State

    Science.gov (United States)

    ... Associated Lung Ovarian Prostate Skin Uterine Cancer Home Breast Cancer Rates by State Language: English (US) Español (Spanish) ... from breast cancer each year. Rates of Getting Breast Cancer by State The number of people who get ...

  11. Having children after breast cancer.

    Science.gov (United States)

    Dow, K H

    1994-01-01

    Having children after breast cancer is an important clinical issue. Evidence from clinical studies on pregnancy subsequent to breast cancer has not shown a survival disadvantage. Clinical experience suggests that desire for children, support from family, and quality of life issues are also important factors in decisions about pregnancy. This qualitative study was done (1) to identify reasons why young women decide to become pregnant after breast cancer; (2) to describe concerns about subsequent pregnancy; (3) to describe helpful behaviors in decision making; and (4) to explore the meaning of having children after breast cancer. Twenty-three women were identified who had early-stage breast cancer and became pregnant after breast-conserving surgery and radiation therapy. Sixteen women participated in a semi-structured interview. Qualitative data were analyzed for content. Results indicate that pregnancy subsequent to breast cancer is a powerful stimulus for young women to "get well" again. Reasons for subsequent pregnancy were related to the women's developmental age. Young women expressed concerns about the potential for future disease recurrence, about breast self-examination and mammography during pregnancy, and about surviving to see their children grow up. Perceived helpful behaviors included developing a realistic perspective, living with uncertainty, love and support of spouse, and delineating differences between personal and medical decision making.

  12. Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.

    Science.gov (United States)

    Fostira, F; Konstantopoulou, I; Mavroudis, D; Tryfonopoulos, D; Yannoukakos, D; Voutsinas, G E

    2015-04-01

    Currently, hereditary breast cancer is being attributed to more than 20 genes of differing penetrance. Although BRCA1 and BRCA2 are still the genes of reference for breast cancer susceptibility, extreme breast cancer phenotypes may be the result of deleterious alleles of other genes. Here, we report three families with early-onset breast cancer that were initially referred for BRCA1/BRCA2 genetic testing. They were diagnosed with breast cancer at an extraordinarily early age. On the basis of their extensive family history, which included multiple cancer types, and their Her2 status, they were suspected for Li-Fraumeni syndrome. Indeed, all three probands were found to harbor TP53 tumor suppressor gene mutations. These included p.C275X, described here for the first time, as well as p.R213X and p.Y220C, which have been described in the past. Our conclusion is that decisions on genetic analysis for inherited early onset breast cancer should always be based on detailed pedigree information, combined with Her2 status. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer

    Directory of Open Access Journals (Sweden)

    Desjardins Sylvie

    2009-06-01

    Full Text Available Abstract Background The Nijmegen Breakage Syndrome is a chromosomal instability disorder characterized by microcephaly, growth retardation, immunodeficiency, and increased frequency of cancers. Familial studies on relatives of these patients indicated that they also appear to be at increased risk of cancer. Methods In a candidate gene study aiming at identifying genetic determinants of breast cancer susceptibility, we undertook the full sequencing of the NBN gene in our cohort of 97 high-risk non-BRCA1 and -BRCA2 breast cancer families, along with 74 healthy unrelated controls, also from the French Canadian population. In silico programs (ESEfinder, NNSplice, Splice Site Finder and MatInspector were used to assess the putative impact of the variants identified. The effect of the promoter variant was further studied by luciferase gene reporter assay in MCF-7, HEK293, HeLa and LNCaP cell lines. Results Twenty-four variants were identified in our case series and their frequency was further evaluated in healthy controls. The potentially deleterious p.Ile171Val variant was observed in one case only. The p.Arg215Trp variant, suggested to impair NBN binding to histone γ-H2AX, was observed in one breast cancer case and one healthy control. A promoter variant c.-242-110delAGTA displayed a significant variation in frequency between both sample sets. Luciferase reporter gene assay of the promoter construct bearing this variant did not suggest a variation of expression in the MCF-7 breast cancer cell line, but indicated a reduction of luciferase expression in both the HEK293 and LNCaP cell lines. Conclusion Our analysis of NBN sequence variations indicated that potential NBN alterations are present, albeit at a low frequency, in our cohort of high-risk breast cancer cases. Further analyses will be needed to fully ascertain the exact impact of those variants on breast cancer susceptibility, in particular for variants located in NBN promoter region.

  14. Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer.

    Science.gov (United States)

    Osorio, Ana; de la Hoya, Miguel; Rodríguez-López, Raquel; Martínez-Ramírez, Angel; Cazorla, Alicia; Granizo, Juan José; Esteller, Manel; Rivas, Carmen; Caldés, Trinidad; Benítez, Javier

    2002-05-10

    The BRCA1 and BRCA2 genes are responsible for a high proportion of familial breast cancer; germline mutations in these genes confer a lifetime risk of about 70% for developing breast cancer. Most of the described deleterious mutations are small deletions or insertions that originate a truncated protein; however, in many cases, they are amino acid changes whose significance is unknown. In these cases, there are some tests that can analyze the meaning of these variants, but most remain unclassified. The BRCA genes are tumor suppressors and it is believed that complete loss of the wild-type allele is a common mechanism of inactivation in tumors from patients carrying a germline deleterious mutation in these genes; if this is true, loss of heterozygosity (LOH) analysis in the tumor sample could help to distinguish if a rare variant is either a deleterious mutation or a common polymorphism. In the present study, we performed LOH analysis at the BRCA loci in 47 tumors from patients who belonged to high-risk breast cancer families and were carriers of any type of alteration in these genes. Our results suggest that (i) loss of the wild-type allele is the most common mechanism of inactivation in tumors from patients who carry a deleterious mutation in any of the genes, (ii) this loss is not common when we analyze familial tumors not associated with mutations in BRCA and (iii) LOH can be used to clarify variants of unknown significance in the BRCA genes. Copyright 2002 Wiley-Liss, Inc.

  15. The impact of family history of breast cancer on knowledge, attitudes, and early detection practices of Mexican women along the Mexico-US border.

    Science.gov (United States)

    Bird, Yelena; Banegas, Matthew P; Moraros, John; King, Sasha; Prapasiri, Surasri; Thompson, Beti

    2011-10-01

    Rates of breast cancer (BC) have increased in Mexico, with the highest incidence and mortality rates observed in the northern Mexican states. This study aimed to describe the BC knowledge, attitudes and screening practices among Mexican women with and without a family history of BC residing along the Mexico-US border, and identify factors associated with screening behaviors. One hundred and twenty eight Mexican women aged 40 and older completed an interviewer-administered questionnaire on sociodemographic characteristics, knowledge, family history, and screening practices. There were no significant differences between Mexican women with and without a family history. Over 60% of women in both groups had never had a mammogram/breast ultrasound, and more than 50% had never obtained a clinical breast exam. Age, marital status, insurance, and breast cancer knowledge significantly influenced BC screening behaviors among Mexican women. Further research is needed to examine other key factors associated with screening utilization, in effort of improving BC rates.

  16. Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis

    Energy Technology Data Exchange (ETDEWEB)

    Jansen-van der Weide, Marijke C. [University Medical Center Groningen, University of Groningen, Department of Radiology, Hanzeplein 1, PO Box 30.001, Groningen (Netherlands); University Medical Center Groningen, University of Groningen, Department of Epidemiology, Groningen (Netherlands); Greuter, Marcel J.W.; Pijnappel, Ruud M. [University Medical Center Groningen, University of Groningen, Department of Radiology, Hanzeplein 1, PO Box 30.001, Groningen (Netherlands); Jansen, Liesbeth [University Medical Center Groningen, University of Groningen, Department of Surgery, Groningen (Netherlands); Oosterwijk, Jan C. [University Medical Center Groningen, University of Groningen, Department of Clinical Genetics, Groningen (Netherlands); Bock, Geertruida H. de [University Medical Center Groningen, University of Groningen, Department of Epidemiology, Groningen (Netherlands)

    2010-11-15

    Women with familial or genetic aggregation of breast cancer are offered screening outside the population screening programme. However, the possible benefit of mammography screening could be reduced due to the risk of radiation-induced tumours. A systematic search was conducted addressing the question of how low-dose radiation exposure affects breast cancer risk among high-risk women. A systematic search was conducted for articles addressing breast cancer, mammography screening, radiation and high-risk women. Effects of low-dose radiation on breast cancer risk were presented in terms of pooled odds ratios (OR). Of 127 articles found, 7 were selected for the meta-analysis. Pooled OR revealed an increased risk of breast cancer among high-risk women due to low-dose radiation exposure (OR = 1.3, 95% CI: 0.9- 1.8). Exposure before age 20 (OR = 2.0, 95% CI: 1.3-3.1) or a mean of {>=}5 exposures (OR = 1.8, 95% CI: 1.1-3.0) was significantly associated with a higher radiation-induced breast cancer risk. Low-dose radiation increases breast cancer risk among high-risk women. When using low-dose radiation among high-risk women, a careful approach is needed, by means of reducing repeated exposure, avoidance of exposure at a younger age and using non-ionising screening techniques. (orig.)

  17. Clinico-morphological patterns of breast cancer including family history in a New Delhi hospital, India-A cross-sectional study

    Directory of Open Access Journals (Sweden)

    Chintamani

    2005-10-01

    Full Text Available Abstract Background Breast cancer is the second most common malignancy among women, next to cervix cancer. Understanding its pathogenesis, morphological features and various risk-factors, including family history holds a great promise for the treatment, early detection and prevention of this cancer. Patients and methods In an attempt to evaluate the clinico-morphological patterns of breast cancer patients, including their family history of breast and/or other cancers, a detailed analysis of 569 breast cancer cases diagnosed during the years 1989–2003 was carried out. Mean and standard deviation and Odds ratios along with 95% confidence intervals were estimated. χ2/Fisher's exact test were employed to test for proportions. Results Mean age of the patient at presentation was 47.8 years, ranging from 13–82 years. Among the various histo-morphological types, Infiltrating duct carcinoma (IDC was found to be commonest type i.e. in 502 cases (88.2%, followed by infiltrating lobular carcinoma (ILC in 21 cases (3.7% and other types forming 9(1%. Out of 369 cases where TNM staging was available, stage IIIB (35.2% was the commonest. Lymph node positivity was observed in 296 cases (80.2%. Out of 226 cases evaluated for presence of family history, 47 cases (20.7% revealed positive family history of cancer, among which breast or ovarian cancer were the commonest type (72.0%. Patients below 45 years of age had more frequent occurrence of family history as compared to above 45 years. Amongst familial cases, Infiltrating duct carcinoma was the commonest form accounting for 68.8% cases while ILC was found to be in a higher proportion (12.5% as compared to non- familial cases (5.4%. Conclusion Among the various determining factors for development of breast cancer and for its early detection, family history of cancer forms one of the major risk factor. It is important to take an appropriate history for eliciting information pertaining to occurrence of cancers

  18. breast cancer screening in

    African Journals Online (AJOL)

    Is Breast transillumination a viable option for breast cancer screening in limited resource settings? Authors: Elobu EA M.Med, Galukande M M M.Med, MSc, FCS, Namuguzi D M.Med, Muyinda Z M.Med. Affiliations: breast cancer screening in limited resource settings? Authors: Elobu EA1 M.Med, Galukande M1 M M.Med, ...

  19. "It was an Emotional Baby": Previvors' Family Planning Decision-Making Styles about Hereditary Breast and Ovarian Cancer Risk.

    Science.gov (United States)

    Dean, Marleah; Rauscher, Emily A

    2017-12-01

    Women who test positive for a BRCA genetic mutation are at an increased risk for developing hereditary breast and ovarian cancer and have a 50% chance of passing on their genetic mutation to their children. The purpose of this study was to investigate how women who test positive for a BRCA mutation but have not been diagnosed with cancer make decisions regarding family planning. Analysis of interviews with 20 women revealed they engage in logical and emotional decision-making styles. Although women want to be logical to reduce their hereditary cancer risk, emotions often complicate their decision-making. Women experience fear and worry about a future cancer diagnosis, yet also desire to create a family, particularly having children through natural conception. That is, women negotiate having preventative surgeries in a logical doctor-recommended timeframe but also organize those decisions around emotional desires of motherhood. Overall, this study demonstrates the complex decisions women who test positive for a BRCA mutation must make in regards to genetic testing timing, family planning, and overall quality of life.

  20. Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

    Directory of Open Access Journals (Sweden)

    Gonzalez-Neira Anna

    2007-08-01

    Full Text Available Abstract Background The recent development of new high-throughput technologies for SNP genotyping has opened the possibility of taking a genome-wide linkage approach to the search for new candidate genes involved in heredity diseases. The two major breast cancer susceptibility genes BRCA1 and BRCA2 are involved in 30% of hereditary breast cancer cases, but the discovery of additional breast cancer predisposition genes for the non-BRCA1/2 breast cancer families has so far been unsuccessful. Results In order to evaluate the power improvement provided by using SNP markers in a real situation, we have performed a whole genome screen of 19 non-BRCA1/2 breast cancer families using 4720 genomewide SNPs with Illumina technology (Illumina's Linkage III Panel, with an average distance of 615 Kb/SNP. We identified six regions on chromosomes 2, 3, 4, 7, 11 and 14 as candidates to contain genes involved in breast cancer susceptibility, and additional fine mapping genotyping using microsatellite markers around linkage peaks confirmed five of them, excluding the region on chromosome 3. These results were consistent in analyses that excluded SNPs in high linkage disequilibrium. The results were compared with those obtained previously using a 10 cM microsatellite scan (STR-GWS and we found lower or not significant linkage signals with STR-GWS data compared to SNP data in all cases. Conclusion Our results show the power increase that SNPs can supply in linkage studies.

  1. Metaplastic Breast Cancer

    OpenAIRE

    T?rkan, Halil; G?kg?z, M. ?ehsuvar; Parlak, N. Serhat

    2016-01-01

    Metaplastic Breast Cancer (MBC) is a term referring to a heterogeneous group with malignant epithelial and mesenchymal tissue components. MBC is a rare disease, accounting for 0.2% of all breast cancers. Most MBC are triple negative cancers with poor prognosis and an aggressive clinical course. Herein, we aimed to present a 74-year-old patient with metaplastic breast cancer along with clinical, radiologic and pathologic properties.

  2. Differential promoter methylation of kinesin family member 1a in plasma is associated with breast cancer and DNA repair capacity

    Science.gov (United States)

    GUERRERO-PRESTON, RAFAEL; HADAR, TAL; OSTROW, KIMBERLY LASKIE; SOUDRY, ETHAN; ECHENIQUE, MIGUEL; ILI-GANGAS, CARMEN; PÉREZ, GABRIELA; PEREZ, JIMENA; BREBI-MIEVILLE, PRISCILLA; DESCHAMPS, JOSÉ; MORALES, LUISA; BAYONA, MANUEL; SIDRANSKY, DAVID; MATTA, JAIME

    2014-01-01

    Methylation alterations of CpG islands, CpG island shores and first exons are key events in the formation and progression of human cancer, and an increasing number of differentially methylated regions and genes have been identified in breast cancer. Recent studies of the breast cancer methylome using deep sequencing and microarray platforms are providing a novel insight on the different roles aberrant methylation plays in molecular subtypes of breast cancer. Accumulating evidence from a subset of studies suggests that promoter methylation of tumor-suppressor genes associated with breast cancer can be quantified in circulating DNA. However, there is a paucity of studies that examine the combined presence of genetic and epigenetic alterations associated with breast cancer using blood-based assays. Dysregulation of DNA repair capacity (DRC) is a genetic risk factor for breast cancer that has been measured in lymphocytes. We isolated plasma DNA from 340 participants in a breast cancer case control project to study promoter methylation levels of five genes previously shown to be associated with breast cancer in frozen tissue and in cell line DNA: MAL, KIF1A, FKBP4, VGF and OGDHL. Methylation of at least one gene was found in 49% of the cases compared to 20% of the controls. Three of the four genes had receiver characteristic operator curve values of ≥0.50: MAL (0.64), KIF1A (0.51) and OGDHL (0.53). KIF1A promoter methylation was associated with breast cancer and inversely associated with DRC. This is the first evidence of a significant association between genetic and epigenetic alterations in breast cancer using blood-based tests. The potential diagnostic utility of these biomarkers and their relevance for breast cancer risk prediction should be examined in larger cohorts. PMID:24927296

  3. Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families.

    Science.gov (United States)

    Vicuña, Belinda; Delaney, Harold D; Flores, Kristina G; Ballinger, Lori; Royce, Melanie; Dayao, Zoneddy; Pal, Tuya; Kinney, Anita Y

    2017-10-02

    Until recently, genetic testing for hereditary breast cancer has primarily focused on pathogenic variants in the BRCA1 and BRCA2 (BRCA) genes. However, advances in DNA sequencing technologies have made simultaneous testing for multiple genes possible. We examined correlates of interest in multigene panel testing and risk communication preferences in an ethnically diverse sample of women who tested negative for BRCA mutations previously but remain at high risk based on their family history (referred to as "BRCA-uninformative") and their at-risk female family members. Two-hundred and thirteen women with a previous breast cancer diagnosis and a BRCA-uninformative test result and their first-degree relatives completed a survey on interest in multigene panel testing, communication preferences, and sociodemographic, psychological, and clinical factors. Stepwise logistic regression was used to identify factors associated with testing interest. Chi-square analyses were used to test differences in risk communication preferences. Interest in multigene panel testing was high (84%) and did not considerably differ by cancer status or ethnicity. In multivariable analysis, factors significantly associated with interest in genetic testing were having had a mammogram in the past 2 years (odds ratio (OR) = 4.04, 95% confidence interval (CI) 1.80-9.02) and high cancer worry (OR = 3.77, 95% CI 1.34-10.60). Overall, the most commonly preferred genetic communication modes were genetic counselors, oncologists, and print materials. However, non-Hispanic women were more likely than Hispanic women to prefer web-based risk communication (p testing. Cancer-related emotions and communication preferences should be considered in developing targeted genetic risk communication strategies.

  4. Breast cancer risk factors

    Directory of Open Access Journals (Sweden)

    Marzena Kamińska

    2015-09-01

    Full Text Available Breast cancer is the most frequently diagnosed neoplastic disease in women around menopause often leading to a significant reduction of these women’s ability to function normally in everyday life. The increased breast cancer incidence observed in epidemiological studies in a group of women actively participating in social and professional life implicates the necessity of conducting multidirectional studies in order to identify risk factors associated with the occurrence of this type of neoplasm. Taking the possibility of influencing the neoplastic transformation process in individuals as a criterion, all the risk factors initiating the process can be divided into two groups. The first group would include inherent factors such as age, sex, race, genetic makeup promoting familial occurrence of the neoplastic disease or the occurrence of benign proliferative lesions of the mammary gland. They all constitute independent parameters and do not undergo simple modification in the course of an individual’s life. The second group would include extrinsic factors conditioned by lifestyle, diet or long-term medical intervention such as using oral hormonal contraceptives or hormonal replacement therapy and their influence on the neoplastic process may be modified to a certain degree. Identification of modifiable factors may contribute to development of prevention strategies decreasing breast cancer incidence.

  5. Breast Cancer Risk in American Women

    Science.gov (United States)

    ... of Breast & Gynecologic Cancers Breast Cancer Screening Research Breast Cancer Risk in American Women On This Page What ... risk of developing the disease. Personal history of breast cancer : Women who have had breast cancer are more ...

  6. [Breast cancer surgery].

    Science.gov (United States)

    Vlastos, Georges; Berclaz, Gilles; Langer, Igor; Pittet-Cuenod, Brigitte; Delaloye, Jean-François

    2007-10-24

    Breast conserving surgery followed by radiation therapy is the treatment of choice for early breast cancer. For patients who choice or need a mastectomy, breast reconstruction provides an acceptable alternative. Breast cancer surgery has been evolving through minimally invasive approaches. Sentinel node biopsy has already remplaced axillary lymph node dissection in the evaluation of the axilla. Local ablation of the tumor may be a valuable alternative to surgery in the future.

  7. Gene panel testing for hereditary breast cancer.

    Science.gov (United States)

    Winship, Ingrid; Southey, Melissa C

    2016-03-21

    Inherited predisposition to breast cancer is explained only in part by mutations in the BRCA1 and BRCA2 genes. Most families with an apparent familial clustering of breast cancer who are investigated through Australia's network of genetic services and familial cancer centres do not have mutations in either of these genes. More recently, additional breast cancer predisposition genes, such as PALB2, have been identified. New genetic technology allows a panel of multiple genes to be tested for mutations in a single test. This enables more women and their families to have risk assessment and risk management, in a preventive approach to predictable breast cancer. Predictive testing for a known family-specific mutation in a breast cancer predisposition gene provides personalised risk assessment and evidence-based risk management. Breast cancer predisposition gene panel tests have a greater diagnostic yield than conventional testing of only the BRCA1 and BRCA2 genes. The clinical validity and utility of some of the putative breast cancer predisposition genes is not yet clear. Ethical issues warrant consideration, as multiple gene panel testing has the potential to identify secondary findings not originally sought by the test requested. Multiple gene panel tests may provide an affordable and effective way to investigate the heritability of breast cancer.

  8. Breast Cancer and Bone Loss

    Science.gov (United States)

    ... Menopause Map Featured Resource Find an Endocrinologist Search Breast Cancer and Bone Loss July 2010 Download PDFs English ... G. Komen Foundation What is the link between breast cancer and bone loss? Certain treatments for breast cancer ...

  9. Genetics Home Reference: breast cancer

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Breast cancer Breast cancer Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Breast cancer is a disease in which certain cells in ...

  10. Molecular imaging of breast cancer

    NARCIS (Netherlands)

    Munnink, T. H. Oude; Nagengast, W. B.; Brouwers, A. H.; Schroder, C. P.; Hospers, G. A.; Lub-de Hooge, M. N.; van der Wall, E.; van Diest, P. J.; de Vries, E. G. E.

    2009-01-01

    Molecular imaging of breast cancer can potentially be used for breast cancer screening, staging, restaging, response evaluation and guiding therapies. Techniques for molecular breast cancer imaging include magnetic resonance imaging (MRI), optical imaging, and radionuclide imaging with positron

  11. A Novel Approach to Detect Therapeutic Resistance in Breast Cancer

    Science.gov (United States)

    2008-09-01

    give number Code: number, 998=unknown, First partus Code: age, 998= unknown, Breast feeding ...overweight, 2= normal, 3= underweight , 998= unknown Heredity (at time of first breast cancer diagnosis) Family history of breast cancer... parent , 2= sibling, 3= offspring, 4= more distant, 998=unknown, Type of cancer Code: 1= breast, 2= ovary, 3= both, Relationship Code: 1

  12. [Organized breast cancer screening].

    Science.gov (United States)

    Rouëssé, Jacques; Sancho-Garnier, Hélèn

    2014-02-01

    Breast screening programs are increasingly controversial, especially regarding two points: the number of breast cancer deaths they avoid, and the problem of over-diagnosis and over-treatment. The French national breast cancer screening program was extended to cover the whole country in 2004. Ten years later it is time to examine the risk/benefit ratio of this program and to discuss the need for change. Like all forms of cancer management, screening must be regularly updated, taking into account the state of the art, new evidence, and uncertainties. All screening providers should keep themselves informed of the latest findings. In the French program, women aged 50-74 with no major individual or familial risk factors for breast cancer are offered screening mammography and clinical breast examination every two years. Images considered non suspicious of malignancy by a first reader are re-examined by a second reader. The devices and procedures are subjected to quality controls. Participating radiologists (both public and private) are required to read at least 500 mammographies per year. The program's national participation rate was 52.7 % in 2012. When individual screening outside of the national program is taken into account (nearly 15 % of women), coverage appears close to the European recommendation of 65 %. Breast cancer mortality has been falling in France by 0.6 % per year for over 30 years, starting before mass screening was implemented, and by 1.5 % since 2005. This decline can be attributed in part to earlier diagnosis and better treatment, so that the specific impact of screening cannot easily be measured. Over-treatment, defined as the detection and treatment of low-malignancy tumors that would otherwise not have been detected in a person's lifetime, is a major negative effect of screening, but its frequency is not precisely known (reported to range from 1 % to 30 %). In view of these uncertainties, it would be advisable to modify the program in order to

  13. 'It is hard for mums to put themselves first': how mothers diagnosed with breast cancer manage the sociological boundaries between paid work, family and caring for the self.

    Science.gov (United States)

    Mackenzie, Catherine Ruth

    2014-09-01

    This paper aims to increase understanding of how mothers diagnosed with breast cancer while in the paid workforce experience and manage their multiple demands of taking care of themselves, their children and their paid work. In-depth, semi-structured interviews were conducted with 32 women who were mothers of dependent children and in the paid workforce at the time of their breast cancer diagnosis. The sample includes women living in urban and rural Australia. The study found that after a breast cancer diagnosis, participants tended to prioritise their health and wellbeing over paid work. Yet dominance of gendered identity meant that they tended to place the needs of family, especially children, above their own health and wellbeing. The key factors that influenced mothers' decisions to continue in, return to, or leave paid work after a breast cancer diagnosis included: a change in perspective regarding what was important in their lives; level of support from the workplace and home; the extent to which participating in paid work was a financial necessity; the extent to which their identity was connected to paid work, and; ongoing level of pain or fatigue. The paper concludes that using the sociological concepts of the fateful moment, boundary maintenance and a feminist ethic of care produces a more nuanced understanding of women's participation in paid work after breast cancer than examining paid workforce participation, or unpaid responsibilities and mothering, separately. The nature of the permeability or malleability of boundaries between work, family and taking care of the self affects women's participation in paid work during and/or after breast cancer treatment. Increased boundary permeability or malleability brought about more by cooperation than conflict facilitated positive experiences of re-negotiating boundaries, whereas increased permeability or malleability brought about more by conflict than cooperation created difficulties for women in finding an

  14. Effects of Lycopene on the Insulin-Like Growth Factor (IGF) System in Premenopausal Breast Cancer Survivors and Women at High Familial Breast Cancer Risk

    NARCIS (Netherlands)

    Voskuil, Dorien W.; Vrieling, Alina; Korse, Catharina M.; Beijnen, Jos H.; Bonfrer, Johannes M. G.; van Doorn, Jaap; Kaas, Reinie; Oldenburg, Hester S. A.; Russell, Nicola S.; Rutgers, Emiel J. T.; Verhoef, Senno; van Leeuwen, Flora E.; van't Veer, Laura J.; Rookus, Matti A.

    2008-01-01

    Insulin-like growth factor-I (IGF-I) is an important growth factor associated with increased risk of premenopausal breast cancer. We conducted a randomized, placebo-controlled, double-blind, crossover trial to evaluate whether tomato-derived lycopene supplementation (30 mg/day for 2 mo) decreases

  15. Breast cancer predisposition syndromes.

    Science.gov (United States)

    Hemel, Deborah; Domchek, Susan M

    2010-10-01

    A small, but important, percentage of breast cancer cases is caused by the inheritance of a single copy of a mutated gene. BRCA1 and BRCA2 are the genes most commonly associated with inherited breast cancer; however, mutations in TP53 and PTEN cause Li-Fraumeni syndrome and Cowden syndrome, respectively, both of which are associated with high lifetime risks of breast cancer. Advances in the field of breast cancer genetics have led to an improved understanding of detection and prevention strategies. More recently, strategies to target the underlying genetic defects in BRCA1- and BRCA2-associated breast and ovarian cancers are emerging and may have implications for certain types of sporadic breast cancer. Copyright 2010 Elsevier Inc. All rights reserved.

  16. Preparing young people for future decision-making about cancer risk in families affected or at risk from hereditary breast cancer: A qualitative interview study.

    Science.gov (United States)

    Rowland, Emma; Plumridge, Gill; Considine, Anna-Marie; Metcalfe, Alison

    2016-12-01

    Women carrying the mutated BRCA gene, have approximately an 80% life-time risk of developing breast cancer with 50% risk of their children inheriting the gene mutation. Many parents find it difficult to know when and how to disclose this information to their children and how such disclosure might affect their child's future decision-making. This study explored the communication of genetic risk information in families using qualitative semi-structured interviews conducted with parents, children (7-11years) and young people (12-18years) affected or at risk from a BRCA gene mutation. Thematic analysis was applied to coded transcripts producing four themes; family communication, perception of cancer risks, risk management strategies and impact of genetic risk communication in children and young people's decision making. Twenty-seven individuals from 11 families took part, recruited through purposive sampling techniques. Cancer risk caused by a BRCA gene mutation induced a sense of fear in parents about their children's future. As a result, parents with hereditary breast cancer disclosed limited information about the risks associated with prophylactic surgery and/or the psychological and emotional impacts of surgery on body image. This had implications to children and young people's perceptions of prophylactic procedures, which were already influenced by cultural understandings of the 'desirable body' and increasing acceptance and proliferation cosmetic surgery. Lack of risk management information and the acculturation of cosmetic surgery combined to limit children and young people's understanding of the impact of hereditary breast cancer; reducing their ability to actualise the physiological, psychological and emotional consequences of surgery. Copyright © 2016. Published by Elsevier Ltd.

  17. Participation of Korean families at high risk for hereditary breast and ovarian cancer in BRCA1/2 genetic testing.

    Science.gov (United States)

    Sun, Young; Kang, Eunyoung; Baek, Hyunnam; Jung, Jaehag; Hwang, Euijun; Koo, Jauk; Kim, Eun-Kyu; Kim, Sung-Won

    2015-06-01

    The aim of our study was to determine the rate of participation in genetic testing, to determine the reasons for non-participation and to identify the factors affecting participation in BRCA genetic testing for high-risk patients. This study was performed through a retrospective review of 804 individuals who underwent genetic counseling for BRCA1/2 gene mutations at Seoul National University Bundang Hospital between July 2003 and September 2012. In total, 728 (90.5%) individuals underwent BRCA1/2 mutation screening after the initial genetic counseling; 88.2% of 647 probands and 100% of 157 family members were screened. In multivariate analysis, family history of breast cancer and younger age were independent variables affecting participation in genetic testing. Of the 132 people who initially declined genetic testing, 58 (43.9%) postponed the decision, 30 (22.7%) needed time to discuss the issue with family members, 22 (16.7%) did not want to know if they had a BRCA1/2 mutation, and 22 (16.7%) declined the test because of financial problems. When analyzing refusal of testing according to the time period before and after the implementation of national health insurance coverage for BRCA1/2 genetic testing, the critical reason given for refusal was different. After insurance coverage, refusal for financial reason was decreased from 61.1 to 9.6%. A family history of breast cancer and a younger age were important factors associated with participation in genetic testing. National health insurance decreased the proportion of individuals who did not participate in testing owing to a financial reason. In genetic counseling, we have to understand these issues and consider several factors that may influence an individual's decision to be tested. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Breast cancer statistics, 2013.

    Science.gov (United States)

    DeSantis, Carol; Ma, Jiemin; Bryan, Leah; Jemal, Ahmedin

    2014-01-01

    In this article, the American Cancer Society provides an overview of female breast cancer statistics in the United States, including data on incidence, mortality, survival, and screening. Approximately 232,340 new cases of invasive breast cancer and 39,620 breast cancer deaths are expected to occur among US women in 2013. One in 8 women in the United States will develop breast cancer in her lifetime. Breast cancer incidence rates increased slightly among African American women; decreased among Hispanic women; and were stable among whites, Asian Americans/Pacific Islanders, and American Indians/Alaska Natives from 2006 to 2010. Historically, white women have had the highest breast cancer incidence rates among women aged 40 years and older; however, incidence rates are converging among white and African American women, particularly among women aged 50 years to 59 years. Incidence rates increased for estrogen receptor-positive breast cancers in the youngest white women, Hispanic women aged 60 years to 69 years, and all but the oldest African American women. In contrast, estrogen receptor-negative breast cancers declined among most age and racial/ethnic groups. These divergent trends may reflect etiologic heterogeneity and the differing effects of some factors, such as obesity and parity, on risk by tumor subtype. Since 1990, breast cancer death rates have dropped by 34% and this decrease was evident in all racial/ethnic groups except American Indians/Alaska Natives. Nevertheless, survival disparities persist by race/ethnicity, with African American women having the poorest breast cancer survival of any racial/ethnic group. Continued progress in the control of breast cancer will require sustained and increased efforts to provide high-quality screening, diagnosis, and treatment to all segments of the population. © 2013 American Cancer Society, Inc.

  19. [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.

  20. The tetraindole SK228 reverses the epithelial-to-mesenchymal transition of breast cancer cells by up-regulating members of the miR-200 family.

    Directory of Open Access Journals (Sweden)

    Chie-Hong Wang

    Full Text Available The results of recent studies have shown that metastasis, the most common malignancy and primary cause of mortality promoted by breast cancer in women, is associated with the epithelial-to-mesenchymal transition (EMT. The results of the current study show that SK228, a novel indole containing substance, exhibits anti-cancer activity. In addition, the effects of SK228 on the regulation of EMT in breast cancer cells as well as the underlying mechanism have been explored. SK228 was observed to induce a fibroblastoid to epithelial-like change in the appearance of various breast cancer cell lines and to suppress the migration and invasion of these cancer cells in vitro. Moreover, expression of E-cadherin was found to increase following SK228 treatment whereas ZEB1 expression was repressed. Expression of other major EMT inducers, including ZEB2, Slug and Twist1, is also repressed by SK228 as a consequence of up-regulation of members of the miR-200 family, especially miR-200c. The results of animal studies demonstrate that SK228 treatment leads to effective suppression of breast cancer growth and metastasis in vivo. The observations made in this investigation show that SK228 reverses the EMT process in breast cancer cells via an effect on the miR-200c/ZEB1/E-cadherin signalling pathway. In addition, the results of a detailed analysis of the in vivo anti-cancer activities of SK228, carried out using a breast cancer xenograft animal model, show that this substance is a potential chemotherapeutic agent for the treatment of breast cancer.

  1. 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.

  2. Neuroendocrine breast cancer.

    Science.gov (United States)

    Graça, Susana; Esteves, Joana; Costa, Sílvia; Vale, Sílvio; Maciel, Jorge

    2012-08-13

    Neuroendocrine breast cancer is thought to account for about 1% of all breast cancers. This rare type of breast malignancy is more common in older women and presents as a low-grade, slow-growing cancer. The most definitive markers that indicate neuroendocrine carcinoma are the presence of chromogranin, synaptophysin or neuron-specific enolase, in at least 50% of malignant tumour cells. The authors present a case report of an 83-year-old woman, admitted to their institution with right breast lump. Physical examination, mammography and ultrasonography showed a 2.4 cm nodule, probably a benign lesion (BI-RADS 3). A fine needle aspiration biopsy was performed and revealed proliferative epithelial papillary lesion. She was submitted to excisional biopsy and histology showed endocrine breast cancer well differentiated (G1). Immunohistochemically, tumour cells were positive for synaptophysin. These breast cancers are characterised for their excellent prognosis and conservative treatment is almost always enough to obtain patient cure.

  3. Triple-modality screening trial for familial breast cancer underlines the importance of magnetic resonance imaging and questions the role of mammography and ultrasound regardless of patient mutation status, age, and breast density.

    Science.gov (United States)

    Riedl, Christopher C; Luft, Nikolaus; Bernhart, Clemens; Weber, Michael; Bernathova, Maria; Tea, Muy-Kheng M; Rudas, Margaretha; Singer, Christian F; Helbich, Thomas H

    2015-04-01

    To evaluate the breast cancer screening efficacy of mammography, ultrasound, and magnetic resonance imaging (MRI) in a high-risk population and in various population subgroups. In a single-center, prospective, nonrandomized comparison study, BRCA mutation carriers and women with a high familial risk (> 20% lifetime risk) for breast cancer were offered screening with mammography, ultrasound, and MRI every 12 months. Diagnostic performance was compared between individual modalities and their combinations. Further comparisons were based on subpopulations dichotomized by screening rounds, mutation status, age, and breast density. There were 559 women with 1,365 complete imaging rounds included in this study. The sensitivity of MRI (90.0%) was significantly higher (P cancers, 18 (45.0%) were detected by MRI alone. Two cancers were found by mammography alone (a ductal carcinoma in situ [DCIS] with microinvasion and a DCIS with cancers were detected by ultrasound alone. Similarly, of 14 DCISs, all were detected by MRI, whereas mammography and ultrasound each detected five DCISs (35.7%). Age, mutation status, and breast density had no influence on the sensitivity of MRI and did not affect the superiority of MRI over mammography and ultrasound. MRI allows early detection of familial breast cancer regardless of patient age, breast density, or risk status. The added value of mammography is limited, and there is no added value of ultrasound in women undergoing MRI for screening. © 2015 by American Society of Clinical Oncology.

  4. The use of the life course paradigm and life course charts to explore referral for family history of breast cancer.

    Science.gov (United States)

    Benjamin, Caroline; Flynn, Maria; Hallett, Christine; Ellis, Ian; Booth, Katie

    2008-01-01

    Life course research methodologies are used extensively in historical and social science research. In 1998 the life course paradigm was introduced to provide a way of tracing the interplay of person and setting. The method has had a very limited use in nursing research, but in this study it was utilized as a way of capturing dynamic change by placing the individual within a context of four domains; location in time and place, linked lives, human agency and timing of lives. To describe the paradigm, review its use in healthcare research and provide a specific example of its use in healthcare. This paper discusses a novel method of creating life course charts for a qualitative study exploring the differing experiences of women referred from primary care to specialist services due to a family history of breast cancer. A nurse-led breast cancer family history clinic in the UK. Twenty-two women. Life charts were used in conjunction with a grounded theory approach to analyse data collected from semi-structured interviews. Twenty-two life charts were created and the ability to layer the charts of multiple women to visualise similarities and differences aided the analysis. The life charts were a useful tool in the development of theoretical understandings and the psychosocial process of realisation of risk emerged as central to the initiation of referral. This was often apparent when approaching the age of an affected relative (anticipated onset) or when current circumstances emulate past experience (generational transference). This approach to charting complex psychological, social and contextual factors throughout the life course was methodologically beneficial and could have a wider utility in nursing and healthcare research. As a research tool it enhanced a holistic approach to patient care issues and was helpful as an aid to understanding health behaviours linked to familial risk.

  5. Other Considerations for Pregnancy and Breast Cancer

    Science.gov (United States)

    ... first 3 months of pregnancy . Other Information About Pregnancy and Breast Cancer Key Points Lactation (breast milk production) and breast- ... has had breast cancer. To Learn More About Breast Cancer and Pregnancy For more information from the National Cancer Institute ...

  6. General Information about Breast Cancer and Pregnancy

    Science.gov (United States)

    ... first 3 months of pregnancy . Other Information About Pregnancy and Breast Cancer Key Points Lactation (breast milk production) and breast- ... has had breast cancer. To Learn More About Breast Cancer and Pregnancy For more information from the National Cancer Institute ...

  7. Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia

    OpenAIRE

    Sofi Atshemyan; Andranik Chavushyan; Nerses Berberian; Arthur Sahakyan; Roksana Zakharyan; Arsen Arakelyan

    2017-01-01

    Background.?Breast cancer is one of the most common cancers in women worldwide. The germline mutations of the BRCA1 and BRCA2 genes are the most significant and well characterized genetic risk factors for hereditary breast cancer. Intensive research in the last decades has demonstrated that the incidence of mutations varies widely among different populations. In this study we attempted to perform a pilot study for identification and characterization of mutations in BRCA1 and BRCA2 genes among...

  8. Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent

    Directory of Open Access Journals (Sweden)

    Tischkowitz Marc

    2013-01-01

    Full Text Available Abstract Background The PALB2 c.2323C>T [p.Q775X] mutation has been reported in at least three breast cancer families and breast cancer cases of French Canadian descent and this has been attributed to common ancestors. The number of mutation-positive cases reported varied based on criteria of ascertainment of index cases tested. Although inherited PALB2 mutations are associated with increased risks of developing breast cancer, risk to ovarian cancer has not been fully explored in this demographically unique population. Methods We screened the PALB2 p.Q775X variant in 71 families with at least three cases of breast cancer (n=48 or breast and ovarian cancers (n=23 that have previously been found negative for at least the most common BRCA1 and BRCA2 mutations reported in the French Canadian population and in 491 women of French Canadian descent who had invasive ovarian cancer and/or low malignant potential tumors of the major histopathological subtypes. Results We identified a PALB2 p.Q775X carrier in a breast cancer family, who had invasive ductal breast carcinomas at 39 and 42 years of age. We also identified a PALB2 p.Q775X carrier who had papillary serous ovarian cystadenocarcinoma at age 58 among the 238 serous subtype ovarian cancer cases investigated, who also had breast cancer at age 52. Conclusion Our findings, taken together with previous reports, support adding PALB2 c.2323C>T p.Q775X to the list of cancer susceptibility genes for which founder mutations have been identified in the French Canadian population.

  9. Methylation markers for early breast cancer detection : -

    NARCIS (Netherlands)

    Suijkerbuijk, K.P.M.|info:eu-repo/dai/nl/304822280

    2010-01-01

    Women known with a familial predisposition or a personal history of breast cancer bear an up to 85% lifetime risk of developing breast cancer. Despite regular screening, up to 50% of these women develop “interval malignancies” that are discovered in between screening visits. Therefore, novel ways of

  10. Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition : a meta-analysis

    NARCIS (Netherlands)

    Jansen-van der Weide, Marijke C.; Greuter, Marcel J. W.; Jansen, Liesbeth; Oosterwijk, Jan C.; Pijnappel, Ruud M.; de Bock, Geertruida H.

    2010-01-01

    Women with familial or genetic aggregation of breast cancer are offered screening outside the population screening programme. However, the possible benefit of mammography screening could be reduced due to the risk of radiation-induced tumours. A systematic search was conducted addressing the

  11. PET scan for breast cancer

    Science.gov (United States)

    ... radioactive substance (called a tracer) to look for breast cancer. This tracer can help identify areas of cancer ... only after a woman has been diagnosed with breast cancer. It is done to see if the cancer ...

  12. 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.

  13. BREAST CANCER AND EXERCISE

    Science.gov (United States)

    2008-03-19

    Prevent Osteoporosis and Osteoporotic Fractures; Improve Quality of Life; Improve Weight Control, and Muscular and Cardiovascular Fitness; Help the Patients to Return to Working Life; Reduce the Risk of Breast Cancer Recurrence; Prevent Other Diseases and Reduce All-Cause Mortality in Patients With Primary Breast Cancer.

  14. Male breast cancer

    DEFF Research Database (Denmark)

    Lautrup, Marianne D; Thorup, Signe S; Jensen, Vibeke

    2017-01-01

    Objective: Describe prognostic parameters of Danish male breast cancer patients (MBCP) diagnosed from 1980–2009. Determine all-cause mortality compared to the general male population and analyze survival/mortality compared with Danish female breast cancer patients (FBCP) in the same period...

  15. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

    Science.gov (United States)

    Peterlongo, Paolo; Catucci, Irene; Colombo, Mara; Caleca, Laura; Mucaki, Eliseos; Bogliolo, Massimo; Marin, Maria; Damiola, Francesca; Bernard, Loris; Pensotti, Valeria; Volorio, Sara; Dall'Olio, Valentina; Meindl, Alfons; Bartram, Claus; Sutter, Christian; Surowy, Harald; Sornin, Valérie; Dondon, Marie-Gabrielle; Eon-Marchais, Séverine; Stoppa-Lyonnet, Dominique; Andrieu, Nadine; Sinilnikova, Olga M.; Mitchell, Gillian; James, Paul A.; Thompson, Ella; Marchetti, Marina; Verzeroli, Cristina; Tartari, Carmen; Capone, Gabriele Lorenzo; Putignano, Anna Laura; Genuardi, Maurizio; Medici, Veronica; Marchi, Isabella; Federico, Massimo; Tognazzo, Silvia; Matricardi, Laura; Agata, Simona; Dolcetti, Riccardo; Puppa, Lara Della; Cini, Giulia; Gismondi, Viviana; Viassolo, Valeria; Perfumo, Chiara; Mencarelli, Maria Antonietta; Baldassarri, Margherita; Peissel, Bernard; Roversi, Gaia; Silvestri, Valentina; Rizzolo, Piera; Spina, Francesca; Vivanet, Caterina; Tibiletti, Maria Grazia; Caligo, Maria Adelaide; Gambino, Gaetana; Tommasi, Stefania; Pilato, Brunella; Tondini, Carlo; Corna, Chiara; Bonanni, Bernardo; Barile, Monica; Osorio, Ana; Benitez, Javier; Balestrino, Luisa; Ottini, Laura; Manoukian, Siranoush; Pierotti, Marco A.; Renieri, Alessandra; Varesco, Liliana; Couch, Fergus J.; Wang, Xianshu; Devilee, Peter; Hilbers, Florentine S.; van Asperen, Christi J.; Viel, Alessandra; Montagna, Marco; Cortesi, Laura; Diez, Orland; Balmaña, Judith; Hauke, Jan; Schmutzler, Rita K.; Papi, Laura; Pujana, Miguel Angel; Lázaro, Conxi; Falanga, Anna; Offit, Kenneth; Vijai, Joseph; Campbell, Ian; Burwinkel, Barbara; Kvist, Anders; Ehrencrona, Hans; Mazoyer, Sylvie; Pizzamiglio, Sara; Verderio, Paolo; Surralles, Jordi; Rogan, Peter K.; Radice, Paolo

    2015-01-01

    Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28–12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04–12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09–13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer. PMID:26130695

  16. CDC Vital Signs: Breast Cancer

    Science.gov (United States)

    ... 2.65 MB] Read the MMWR Science Clips Breast Cancer Black Women Have Higher Death Rates from Breast ... of Page U.S. State Info Number of Additional Breast Cancer Deaths Among Black Women, By State SOURCE: National ...

  17. Association between breast and thyroid cancers

    Directory of Open Access Journals (Sweden)

    Lehrer S

    2014-02-01

    Full Text Available Steven Lehrer, Sheryl Green, John A Martignetti, Kenneth E Rosenzweig Departments of Radiation Oncology and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Background: The risk of thyroid cancer is known to be slightly increased in women after treatment for breast cancer. In the current study, we analyzed the incidence of thyroid cancer and breast cancer in 50 US states and in the District of Columbia to ascertain how often these two diseases are associated. Methods: Data on the incidence of thyroid cancer were obtained from the Centers for Disease Control and Prevention and the National Cancer Institute and data on the incidence of breast cancer were from the American Cancer Society. Data on the average number of children per family with children and mean household income were sourced from the US Bureau of the Census and prevalence of obesity by state is determined from a paper published in 2010 on state-specific obesity prevalence among US adults by the Centers for Disease Control and Prevention. Results: There was a significant association between breast and thyroid cancer (P=0.002. Since the incidence of breast cancer increases with increasing income and obesity, while decreasing with parity, multiple linear regression was performed. Breast cancer incidence was significantly related to thyroid cancer incidence (β=0.271, P=0.039, inversely related to average number of children per family with children (β=-0.271, P=0.039, unrelated to adult obesity (β=0.134, P=0.369, and significantly related to family income (β=0.642, P<0.001. Conclusion: This study identifies an association between breast and thyroid cancer. The association suggests that unexplored breast-thyroid cancer susceptibility loci exist and warrant further study. Keywords: breast cancer, thyroid cancer, genetics, association

  18. Breast cancer onset in twins and women with bilateral disease

    DEFF Research Database (Denmark)

    Hartman, Mikael; Hall, Per; Edgren, Gustaf

    2008-01-01

    .68% per year, respectively. Contrary to the risk of unilateral disease, the risk of cancer in the nonaffected twin and the opposite breast was not affected by age or time since first event. The relative risk of familial bilateral cancer was 52% higher (incidence rate ratio [IRR] = 1.52; 95% CI, 1.42 to 1......PURPOSE: Little is known of the onset of breast cancer in high-risk populations. We investigated the risk of breast cancer in twin sisters and in the contralateral breast taking family history into consideration. PATIENTS AND METHODS: We analyzed a Scandinavian population-based cohort of 2......,499 female twin pairs, in which at least one had a diagnosis of breast cancer and estimated the risk of breast cancer in the sister. Using a total of 11 million individuals in Sweden with complete family links, we identified 93,448 women with breast cancer and estimated the risk of a bilateral breast cancer...

  19. Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

    DEFF Research Database (Denmark)

    Ahlborn, Lise B; Steffensen, Ane Y; Jønson, Lars

    2015-01-01

    Next-generation sequencing has entered routine genetic testing of hereditary breast cancer. It has provided the opportunity to screen multiple genes simultaneously, and consequently has identified new complex genotypes. Here we report the first identification of a woman double heterozygote...... for mutations in the RAD51C and BRCA2 genes. The RAD51C missense mutation p.Arg258His has previously been identified in a homozygous state in a patient with Fanconi anemia. This mutation is known to affect the DNA repair function of the RAD51C protein. The BRCA2 p.Leu3216Leu synonymous mutation has not been...... described before and mini-gene splicing experiments revealed that the mutation results in skipping of exon 26 containing a part of the DNA-binding domain. We conclude that the woman has two potential disease-causing mutations and that predictive testing of family members should include both the RAD51C...

  20. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

    Directory of Open Access Journals (Sweden)

    Francisco Javier Gracia-Aznarez

    Full Text Available The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new genes explaining the missing heritability in this disease. Today, additional high, moderate and low penetrance genes have been identified in breast cancer, such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent of the familial cases. In the present study we used massively parallel sequencing to analyze 7 BRCA1/BRCA2 negative families, each having at least 6 affected women with breast cancer (between 6 and 10 diagnosed under the age of 60 across generations. After extensive filtering, Sanger sequencing validation and co-segregation studies, variants were prioritized through either control-population studies, including up to 750 healthy individuals, or case-control assays comprising approximately 5300 samples. As a result, a known moderate susceptibility indel variant (CHEK2 1100delC and a catalogue of 11 rare variants presenting signs of association with breast cancer were identified. All the affected genes are involved in important cellular mechanisms like DNA repair, cell proliferation and survival or cell cycle regulation. This study highlights the need to investigate the role of rare variants in familial cancer development by means of novel high throughput analysis strategies optimized for genetically heterogeneous scenarios. Even considering the intrinsic limitations of exome resequencing studies, our findings support the hypothesis that the majority of non-BRCA1/BRCA2 breast cancer families might be explained by the action of moderate and/or low penetrance susceptibility alleles.

  1. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

    Science.gov (United States)

    Gracia-Aznarez, Francisco Javier; Fernandez, Victoria; Pita, Guillermo; Peterlongo, Paolo; Dominguez, Orlando; de la Hoya, Miguel; Duran, Mercedes; Osorio, Ana; Moreno, Leticia; Gonzalez-Neira, Anna; Rosa-Rosa, Juan Manuel; Sinilnikova, Olga; Mazoyer, Sylvie; Hopper, John; Lazaro, Conchi; Southey, Melissa; Odefrey, Fabrice; Manoukian, Siranoush; Catucci, Irene; Caldes, Trinidad; Lynch, Henry T; Hilbers, Florentine S M; van Asperen, Christi J; Vasen, Hans F A; Goldgar, David; Radice, Paolo; Devilee, Peter; Benitez, Javier

    2013-01-01

    The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new genes explaining the missing heritability in this disease. Today, additional high, moderate and low penetrance genes have been identified in breast cancer, such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent of the familial cases. In the present study we used massively parallel sequencing to analyze 7 BRCA1/BRCA2 negative families, each having at least 6 affected women with breast cancer (between 6 and 10) diagnosed under the age of 60 across generations. After extensive filtering, Sanger sequencing validation and co-segregation studies, variants were prioritized through either control-population studies, including up to 750 healthy individuals, or case-control assays comprising approximately 5300 samples. As a result, a known moderate susceptibility indel variant (CHEK2 1100delC) and a catalogue of 11 rare variants presenting signs of association with breast cancer were identified. All the affected genes are involved in important cellular mechanisms like DNA repair, cell proliferation and survival or cell cycle regulation. This study highlights the need to investigate the role of rare variants in familial cancer development by means of novel high throughput analysis strategies optimized for genetically heterogeneous scenarios. Even considering the intrinsic limitations of exome resequencing studies, our findings support the hypothesis that the majority of non-BRCA1/BRCA2 breast cancer families might be explained by the action of moderate and/or low penetrance susceptibility alleles.

  2. Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.

    Directory of Open Access Journals (Sweden)

    Florentine S Hilbers

    Full Text Available The bulk of familial breast cancer risk (∼70% cannot be explained by mutations in the known predisposition genes, primarily BRCA1 and BRCA2. Underlying genetic heterogeneity in these cases is the probable explanation for the failure of all attempts to identify further high-risk alleles. While exome sequencing of non-BRCA1/2 breast cancer cases is a promising strategy to detect new high-risk genes, rational approaches to the rigorous pre-selection of cases are needed to reduce heterogeneity. We selected six families in which the tumours of multiple cases showed a specific genomic profile on array comparative genomic hybridization (aCGH. Linkage analysis in these families revealed a region on chromosome 4 with a LOD score of 2.49 under homogeneity. We then analysed the germline DNA of two patients from each family using exome sequencing. Initially focusing on the linkage region, no potentially pathogenic variants could be identified in more than one family. Variants outside the linkage region were then analysed, and we detected multiple possibly pathogenic variants in genes that encode DNA integrity maintenance proteins. However, further analysis led to the rejection of all variants due to poor co-segregation or a relatively high allele frequency in a control population. We concluded that using CGH results to focus on a sub-set of families for sequencing analysis did not enable us to identify a common genetic change responsible for the aggregation of breast cancer in these families. Our data also support the emerging view that non-BRCA1/2 hereditary breast cancer families have a very heterogeneous genetic basis.

  3. [Fibrocystic breast disease--breast cancer sequence].

    Science.gov (United States)

    Habor, V; Habor, A; Copotoiu, C; Panţîru, A

    2010-01-01

    Fibrocystic breast disease has developed a major issue: the breast cancer sequence. Its involvement regarding the increse of breast cancer risk has 2 aspects: it may be either the marker of a prone tissue or a premalignant hystological deffect. Difficult differential diagnosis of benign proliferative breast lession and carcinoma led to the idea of sequency between the two: cancer does not initiate on normal mammary epithelia; it takes several proliferative stages for it to occur. In our series we analized a number of 677 breast surgical procedures where the pathologic examination reveals 115 cases (17%) of coexistence between cancer and fibrocystic breast disease. This aspect has proved to be related to earlier debut of breast cancer, suggesting that epithelial hyperplasia is a risk factor for breast cancer.

  4. Breast cancer stem cells

    Directory of Open Access Journals (Sweden)

    Thomas W Owens

    2013-08-01

    Full Text Available Cancer metastasis, resistance to therapies and disease recurrence are significant hurdles to successful treatment of breast cancer. Identifying mechanisms by which cancer spreads, survives treatment regimes and regenerates more aggressive tumours are critical to improving patient survival. Substantial evidence gathered over the last 10 years suggests that breast cancer progression and recurrence is supported by cancer stem cells (CSCs. Understanding how CSCs form and how they contribute to the pathology of breast cancer will greatly aid the pursuit of novel therapies targeted at eliminating these cells. This review will summarise what is currently known about the origins of breast CSCs, their role in disease progression and ways in which they may be targeted therapeutically.

  5. Breast reconstruction after breast cancer.

    Science.gov (United States)

    Serletti, Joseph M; Fosnot, Joshua; Nelson, Jonas A; Disa, Joseph J; Bucky, Louis P

    2011-06-01

    After reading this article, the participant should be able to: 1. Describe the mental, emotional, and physical benefits of reconstruction in breast cancer patients. 2. Compare the most common techniques of reconstruction in patients and detail benefits and risks associated with each. 3. Outline different methods of reconstruction and identify the method considered best for the patient based on timing of the procedures, body type, adjuvant therapies, and other coexisting conditions. 4. Distinguish between some of the different flaps that can be considered for autologous reconstruction. Breast cancer is unfortunately a common disease affecting millions of women, often at a relatively young age. Reconstruction following mastectomy offers women an opportunity to mollify some of the emotional and aesthetic effects of this devastating disease. Although varying techniques of alloplastic and autologous techniques are available, all strive to achieve the same goal: the satisfactory reformation of a breast mound that appears as natural as possible without clothing and at the very least is normal in appearance under clothing. This article summarizes the various approaches to breast reconstruction and offers a balanced view of the risks and benefits of each, all of which in the end offer the opportunity for excellent and predictable results with a high degree of patient satisfaction.

  6. Breast cancer: demands of illness.

    Science.gov (United States)

    Loveys, B J; Klaich, K

    1991-01-01

    This study explores the qualitative experience of illness demands from the woman's own perspective by asking, "What is the impact of breast cancer on the daily lives of women of childbearing age?" Semistructured interviews with 79 women newly diagnosed with breast cancer were transcribed and analyzed to discern illness demands. Content analysis yielded 14 domains of illness demands: treatment issues, change in life context or perspective, acceptance of the illness, social interaction or support, physical changes, reconstructing the self, uncertainty, loss, making comparisons, acquiring new knowledge, making choices, mortality issues, financial or occupational concerns, and making a contribution. Illness demands are experienced in every aspect of a woman's life, including her identity, daily routines, family and social experience, and her perception of the past, present, and future. This study details in the women's own language the considerable adjustments brought on by a diagnosis of breast cancer.

  7. The effect of a supportive educational program based on COPE model on caring burden and quality of life in family caregivers of women with breast cancer.

    Science.gov (United States)

    Bahrami, Masoud; Farzi, Saba

    2014-03-01

    The family caregivers of the people with cancer such as breast cancer experience a decrease in their quality of life and an increase of their caring burden. In most of the cases, the researchers consider the quality of life and physical and psychological problems in patients with cancer and pay less attention to the family caregivers. To reduce the caring burden imposed to the caregivers and improve their quality of life, supportive strategies such as problem solving can be used. These interventions may have benefits for the caregivers although the research results are contradictory. The aim of this research was to determine the effect of a supportive educational program, based on COPE model, which focuses on creativity, optimism, planning, and expert information on individuals, on the caring burden and quality of life in the family caregivers of women with breast cancer. The present study is a clinical trial, which was conducted in Seyed-Al-Shohada Hospital of Isfahan University of Medical Sciences and a private center of chemotherapy in 2012. In this study, researchers investigated the effect of a supportive educational program based on COPE model on the caring burden and quality of life in the family caregivers of women with breast cancer. This supportive educational program included two hospital visits and two telephone sessions based on COPE model for 9 days. A total of 64 patients were selected based on the inclusion criteria and randomly assigned into two groups. Data were collected by use of Caregiver Quality of Life Index-Cancer (CQOL-C), World Health Organization Quality of Life - Bref(WHOQOL-Bref)_, and Zarit caring burden at the beginning of the intervention and a month after the intervention. The results showed that in the experimental group, the mean score of physical, mental, spiritual, environmental domains and overall quality of life in the family caregivers was significantly increased compared to the control group, but there was no change in the

  8. Oxalate induces breast cancer.

    Science.gov (United States)

    Castellaro, Andrés M; Tonda, Alfredo; Cejas, Hugo H; Ferreyra, Héctor; Caputto, Beatriz L; Pucci, Oscar A; Gil, German A

    2015-10-22

    Microcalcifications can be the early and only presenting sign of breast cancer. One shared characteristic of breast cancer is the appearance of mammographic mammary microcalcifications that can routinely be used to detect breast cancer in its initial stages, which is of key importance due to the possibility that early detection allows the application of more conservative therapies for a better patient outcome. The mechanism by which mammary microcalcifications are formed is still largely unknown but breast cancers presenting microcalcifications are more often associated with a poorer prognosis. We combined Capillary Electrochromatography, histology, and gene expression (qRT-PCR) to analyze patient-matched normal breast tissue vs. breast tumor. Potential carcinogenicity of oxalate was tested by its inoculation into mice. All data were subjected to statistical analysis. To study the biological significance of oxalates within the breast tumor microenvironment, we measured oxalate concentration in both human breast tumor tissues and adjoining non-pathological breast tissues. We found that all tested breast tumor tissues contain a higher concentration of oxalates than their counterpart non-pathological breast tissue. Moreover, it was established that oxalate induces proliferation of breast cells and stimulates the expression of a pro-tumorigenic gene c-fos. Furthermore, oxalate generates highly malignant and undifferentiated tumors when it was injected into the mammary fatpad in female mice, but not when injected into their back, indicating that oxalate does not induce cancer formation in all types of tissues. Moreover, neither human kidney-epithelial cells nor mouse fibroblast cells proliferate when are treated with oxalate. We found that the chronic exposure of breast epithelial cells to oxalate promotes the transformation of breast cells from normal to tumor cells, inducing the expression of a proto-oncogen as c-fos and proliferation in breast cancer cells

  9. Genetic susceptibility to breast cancer.

    Science.gov (United States)

    Mavaddat, Nasim; Antoniou, Antonis C; Easton, Douglas F; Garcia-Closas, Montserrat

    2010-06-01

    Genetic and lifestyle/environmental factors are implicated in the aetiology of breast cancer. This review summarizes the current state of knowledge on rare high penetrance mutations, as well as moderate and low-penetrance genetic variants implicated in breast cancer aetiology. We summarize recent discoveries from large collaborative efforts to combine data from candidate gene studies, and to conduct genome-wide association studies (GWAS), primarily in breast cancers in the general population. These findings are compared with results from collaborative efforts aiming to identify genetic modifiers in BRCA1 and BRCA2 carriers. Breast cancer is a heterogeneous disease, and tumours from BRCA1 and BRCA2 carriers display distinct pathological characteristics when compared with tumours unselected for family history. The relationship between genetic variants and pathological subtypes of breast cancer, and the implication of discoveries of novel genetic variants to risk prediction in BRCA1/2 mutation carriers and in populations unselected for mutation carrier status, are discussed. (c) 2010. Published by Elsevier B.V.

  10. FastStats: Mammography/Breast Cancer

    Science.gov (United States)

    ... Whooping Cough or Pertussis Family Life Marriage and Divorce Health Care and Insurance Access to Health Care ... Â Related FastStats Pap Tests More data Death rates for breast cancer among females, by race, Hispanic ...

  11. Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

    Science.gov (United States)

    Kang, Peter Choon Eng; Phuah, Sze Yee; Sivanandan, Kavitta; Kang, In Nee; Thirthagiri, Eswary; Liu, Jian Jun; Hassan, Norhashimah; Yoon, Sook-Yee; Thong, Meow Keong; Hui, Miao; Hartman, Mikael; Yip, Cheng Har; Mohd Taib, Nur Aishah; Teo, Soo Hwang

    2014-04-01

    Although the breast cancer predisposition genes BRCA1 and BRCA2 were discovered more than 20 years ago, there remains a gap in the availability of genetic counselling and genetic testing in Asian countries because of cost, access and inaccurate reporting of family history of cancer. In order to improve access to testing, we developed a rapid test for recurrent mutations in our Asian populations. In this study, we designed a genotyping assay with 55 BRCA1 and 44 BRCA2 mutations previously identified in Asian studies, and validated this assay in 267 individuals who had previously been tested by full sequencing. We tested the prevalence of these mutations in additional breast cancer cases. Using this genotyping approach, we analysed recurrent mutations in 533 Malaysian breast cancer cases with Chinese and 1 BRCA1 mutation in Indians account for 60, 24 and 20 % of carrier families, respectively. By contrast, haplotype analyses suggest that a recurrent BRCA2 mutation (c.262_263delCT) found in 5 unrelated Malay families has at least 3 distinct haplotypes. Taken together, our data suggests that panel testing may help to identify carriers, particularly Asian BRCA2 carriers, who do not present with a priori strong family history characteristics.

  12. Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).

    Science.gov (United States)

    Sánchez-Bermúdez, Ana Isabel; Sarabia-Meseguer, Ma Desamparados; García-Aliaga, Ángeles; Marín-Vera, Miguel; Macías-Cerrolaza, José Antonio; Henaréjos, Pilar Sánchez; Guardiola-Castillo, Verónica; Peña, Francisco Ayala-de la; Alonso-Romero, José Luis; Noguera-Velasco, José Antonio; Ruiz-Espejo, Francisco

    2018-01-31

    RAD51C and RAD51D have been defined as susceptibility genes for hereditary breast and ovarian cancer syndrome in several studies. In the present study, a mutation analysis of these genes was performed on non BRCA1/2 families. RAD51C and RAD51D genes were analyzed in 141 and 77 families, respectively. The analysis included direct sequencing and multiple ligation probe analysis. The RAD51C pathogenic variant c.404G > A was identified in a breast and ovarian cancer family (0.7%), while the RAD51D pathogenic variant c.694C > T was described in an ovarian cancer family (1.3%). Moreover, three unknown clinical significance variants were detected: c.307T > G in RAD51C, and c.413A > G and c.715C > T in RAD51D. No large genomic rearrangements (LGRs) were found. RAD51D carriers suffered from premenopausal ovarian tumors. These results increase our knowledge about the RAD51C and RAD51D mutation spectrum and support the notion that these genes should be included in the gene panel testing performed on patients with hereditary breast and ovarian cancer syndrome. Copyright © 2018. Published by Elsevier Masson SAS.

  13. Factors associated with quality of life of outpatients with breast cancer and gynecologic cancers and their family caregivers: a controlled study

    Directory of Open Access Journals (Sweden)

    Hamad Hussein MA

    2007-06-01

    Full Text Available Abstract Background Quality of life (QOL issues are of interest in cancer because effective methods of treatment and detection have led to an increase in the number of long-term survivors. The objectives of the study were: to assess the subjective QOL of stable Sudanese women cancer outpatients and their family caregivers, using the WHO 26-item QOL Instrument; compare with matched general population groups, as well as diabetic and psychiatric patient groups; examine patient-caregiver concordance in ratings; and assess the variables associated with their QOL, with a view to identifying factors that can enhance quality of care. Methods Responses of oncology outpatients with breast cancer (117, cervical cancer (46 and ovarian cancer (18 (aged 44.6, SD 11.5 were compared with those of their family caregivers and matched general population groups. Data were analyzed by univariate and multivariate statistics. Results The cancer groups had similar QOL domain scores, which were significantly lower than those of their caregivers, but higher than the control group as well as those of psychiatric and diabetic patients studied previously. Patients who were married, with higher education, better employment, and with longer duration of illness had higher QOL. Patients on radiotherapy and their caregivers had higher QOL scores. Correlations between patient's ratings and caregiver impression of patient's QOL were high. Caregiver impression was a significant predictor of patient's and caregiver's QOL. Other predictors for the patient were: currently feeling sick and duration of illness; for the caregiver: feeling sick, relationship to patient, and age. Conclusion Cancer patients in stable condition and with psychosocial support can hope to enjoy good QOL with treatment. The findings constitute an evidence base for the country's cancer care program, to boost national health education about prognosis in cancer. Families living with women cancer patients are

  14. Drugs Approved for Breast Cancer

    Science.gov (United States)

    ... Ask about Your Treatment Research Drugs Approved for Breast Cancer This page lists cancer drugs approved by the ... are not listed here. Drugs Approved to Prevent Breast Cancer Evista (Raloxifene Hydrochloride) Keoxifene (Raloxifene Hydrochloride) Nolvadex (Tamoxifen ...

  15. Pattern of breast cancer risk factors among pre and post ...

    African Journals Online (AJOL)

    Context: The incidence of breast cancer is increasing worldwide. In black women, breast cancer is associated with aggressive features and poor survival. Objective: Identification of risk factors such as early age of menarche, obesity and family history of breast cancer may permit preventive strategies. Study Design: A ...

  16. Broccoli Sprout Extract in Treating Patients With Breast Cancer

    Science.gov (United States)

    2017-08-30

    Ductal Breast Carcinoma; Ductal Breast Carcinoma In Situ; Estrogen Receptor Negative; Estrogen Receptor Positive; Invasive Breast Carcinoma; Lobular Breast Carcinoma; Postmenopausal; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer

  17. [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.

  18. Treatment Options for Male Breast Cancer

    Science.gov (United States)

    ... Breast & Gynecologic Cancers Breast Cancer Screening Research Male Breast Cancer Treatment (PDQ®)–Patient Version General Information about Male Breast Cancer Go to Health Professional Version Key Points Male ...

  19. Communication, Coping, and Quality of Life of Breast Cancer Survivors and Family/Friend Dyads: A Pilot Study of Chinese- and Korean-Americans

    Science.gov (United States)

    Lim, Jung-won

    2014-01-01

    Objective This study aimed to understand the dyadic relationships between family communication and quality of life (QOL) and between coping and QOL in Chinese- and Korean-American breast cancer survivor (BCS)-family member dyads. Methods A cross-sectional survey design was used. A total of 32 Chinese- and Korean-American BCS-family member dyads were recruited from the California Cancer Surveillance Program and area hospitals in Los Angeles County, California, United States. The dyadic data were analyzed using a pooled regression actor-partner interdependence model. Results The study findings demonstrated that the survivors’ general communication and use of reframing coping positively predicted their own QOL. The survivors’ and family members’ general communication was also a strong predictor of the family members’ physical-related QOL score specifically. Meanwhile, each person’s use of mobilizing coping negatively predicted his or her partner’s QOL. Conclusions The study findings add important information to the scarce literature on the QOL of Asian-American survivors of breast cancer. The findings suggest that Chinese- and Korean-American BCS and their family members may benefit from interventions that enhance communication and coping within the family unit. PMID:24700695

  20. Communication, coping, and quality of life of breast cancer survivors and family/friend dyads: a pilot study of Chinese-Americans and Korean-Americans.

    Science.gov (United States)

    Lim, Jung-Won

    2014-11-01

    This study aimed to understand the dyadic relationships between family communication and quality of life (QOL) and between coping and QOL in Chinese-American and Korean-American breast cancer survivor (BCS)-family member dyads. A cross-sectional survey design was used. A total of 32 Chinese-American and Korean-American BCS-family member dyads were recruited from the California Cancer Surveillance Program and area hospitals in Los Angeles County, California, USA. The dyadic data were analyzed using a pooled regression actor-partner interdependence model. The study findings demonstrated that the survivors' general communication and use of reframing coping positively predicted their own QOL. The survivors' and family members' general communication was also a strong predictor of the family members' physical-related QOL score specifically. Meanwhile, each person's use of mobilizing coping negatively predicted his or her partner's QOL. The study findings add important information to the scarce literature on the QOL of Asian-American survivors of breast cancer. The findings suggest that Chinese-American and Korean-American BCS and their family members may benefit from interventions that enhance communication and coping within the family unit. Copyright © 2014 John Wiley & Sons, Ltd.

  1. Breast Cancer Research Program

    Science.gov (United States)

    2010-09-01

    treatment with the nonsteroidal anti-inflamma- tory drugs (NSAIDs) ibuprofen or aspirin reduces this inflammatory response and, possibly, postpartum breast...involution with systemic ibuprofen or aspirin did not interrupt mammary epithelial cell regression that normally occurs during this period These data... children of immigrant stress, and social desirability bias. Preliminary data suggest that breast cancer survivors, notably racial/ethnic minorities

  2. The Effect of Breast Cancer Fatalism on Breast Cancer Awareness Among Turkish Women.

    Science.gov (United States)

    Altintas, Hulya Kulakci; Ayyildiz, Tulay Kuzlu; Veren, Funda; Topan, Aysel Kose

    2017-10-01

    The aim of this study was to evaluate the effect of breast cancer fatalism and other factors on breast cancer awareness among Turkish women. This cross-sectional and comparative descriptive study was conducted with 894 women. Data were collected by Personal Information Form, Powe Fatalism Inventory and Champion's Health Belief Model Scale. Seriousness, health motivation, BSE benefits and BSE self-efficacy perceptions of the women were moderate, and susceptibility and BSE barriers perceptions were low. It was determined that awareness of breast cancer of the women was affected by breast cancer fatalism, age, education level, employment status, marital status, family type, economic status, social assurance, menopause status, family history of cancer, family history of breast cancer, knowledge on BSE, source of information on BSE, performing of BSE, frequency of BSE performing, having a problem with breast, having a breast examination in hospital, feeling during breast examination by healthcare professional, sex of healthcare professional for breast examination and their health beliefs (p fatalism. In providing breast cancer early diagnosis behaviors, it is recommended to evaluate fatalism perceptions and health beliefs of the women and to arrange educational programs for this purpose.

  3. Coping with breast cancer: a phenomenological study.

    Science.gov (United States)

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

    2010-01-01

    Breast cancer is the most common malignancy affecting women worldwide. In Lebanon, a country of 4 million people, breast cancer is also the most prevalent type of cancer among Lebanese women. The purpose of this study was to gain a more in-depth understanding of the coping strategies espoused by Lebanese women with breast cancer. The study followed purposeful sampling and saturation principles in which 10 female participants diagnosed as having breast cancer were interviewed. Data were analyzed following a hermeneutical process as described by Diekelmann and Ironside (Encyclopedia of Nursing Research. 1998:50-68). Seven main themes and 1 constitutive pattern emerged from the study describing the Lebanese women's coping strategies with breast cancer. The negative stigma of cancer in the Lebanese culture, the role of women in the Lebanese families, and the embedded role of religion in Lebanese society are bases of the differences in the coping strategies of Lebanese women with breast cancer as compared to women with breast cancer from other cultures. These findings cannot be directly generalized, but they could act as a basis for further research on which to base a development of a framework for an approach to care that promotes coping processes in Lebanese women living with breast cancer. Nursing and medical staff need to have a better understanding of the individual coping strategies of each woman and its impact on the woman's well being; the creation of informal support group is indispensable in helping these women cope with their conditions.

  4. Lymphedema after breast cancer

    National Research Council Canada - National Science Library

    Brahmi, Sami Aziz; Ziani, Fatima Zahra

    2016-01-01

    Image in medicine Lymphedema is one of the most significant survivorship issues after the surgical treatment of breast cancer and in this population it has been documented to have significant quality...

  5. Learning about Breast Cancer

    Science.gov (United States)

    Skip to main content Learning About Breast Cancer Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding ...

  6. Preeclampsia and breast cancer

    DEFF Research Database (Denmark)

    Pacheco, Nadja Livia Pekkola; Andersen, Anne-Marie Nybo; Kamper-Jørgensen, Mads

    2015-01-01

    BACKGROUND: In parous women preeclampsia has been associated with reduced risk of developing breast cancer. Characteristics of births following preeclamptic pregnancies may help understand mechanisms involved in the breast cancer risk reduction inferred by preeclampsia. METHODS: We conducted...... a register-based cohort study of all Danish women giving birth during 1978-2010 (n = 778,701). The association between preeclampsia and breast cancer was evaluated overall and according to birth characteristics by means of incidence rate ratios (IRR) estimated in Poisson regression models. RESULTS: Compared......, and in women giving birth to boys. These findings, however, did not reach statistical significance. Finally, risk reduction was slightly greater following milder forms of preeclampsia. CONCLUSION: Our data is compatible with an approximately 20% reduction in risk of developing breast cancer following...

  7. Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients.

    Science.gov (United States)

    Hemminki, Kari; Müller-Myhsok, Bertram; Lichtner, Peter; Engel, Christoph; Chen, Bowang; Burwinkel, Barbara; Försti, Asta; Sutter, Christian; Wappenschmidt, Barbara; Hellebrand, Heide; Illig, Thomas; Arnold, Norbert; Niederacher, Dieter; Dworniczak, Bernd; Deissler, Helmut; Kast, Karin; Gadzicki, Dorothea; Meitinger, Thomas; Wichmann, H-Erich; Kiechle, Marion; Bartram, Claus R; Schmutzler, Rita K; Meindl, Alfons

    2010-06-15

    To validate common low-risk variants predisposing for breast cancer (BC) in a large set of BRCA1/2 negative familial or genetically enriched cases from Germany, we genotyped 1,415 cases and 1,830 healthy women by MALDI-TOF in 105 candidate SNPs. Significantly higher ORs than previously reported for heterozygous unselected cases were found for the minor allele in FGFR2 (OR = 1.43, 95% CI 1.30-1.59, p-value = 1.24 x 10(-12)) and for TNRC9 (OR = 1.33, 95% CI 1.19-1.46, p-value = 1.54 x 10(-7)). Most intriguing, however, were the ORs for homozygous carriers from high-risk families for FGFR2 (OR = 2.05, 95% CI 1.68-2.51, LSP1 (OR = 0.49, 95% CI 0.28-0.86) and TNRC9 (OR = 1.62, 95% CI 1.27-2.07). Moreover, the additional validation of 99 CGEMS-SNPs identified putative novel susceptibility alleles within the LSP1 gene (OR = 0.73, 95% CI 0.61-0.87, p-value = 5.23 x 10(-4)). Finally, we provide evidence for the first time that a low-risk variant located at 6q22.33 (rs6569479) is associated with estrogen receptor negative BC in familial cases (OR = 1.33, 95% CI 1.06-1.66; p-value = 0.012). Our data confirm the impact of the previously identified susceptibility loci and provide preliminary evidence for novel susceptibility loci in familial BC cases and correlate them to specific histopathological subtypes defined by estrogen receptor status.

  8. Effects of Breast Cancer Fatalism on Breast Cancer Awareness among Nursing Students in Turkey.

    Science.gov (United States)

    Kulakci, Hulya; Ayyildiz, Tulay Kuzlu; Yildirim, Nuriye; Ozturk, Ozlem; Topan, Aysel Kose; Tasdemir, Nurten

    2015-01-01

    Breast cancer is the most common cancer among women and leading cause of death worldwide, including in Turkey. High perceptions of cancer fatalism are associated with lower rates of participation in screening for breast cancer. This study was conducted to evaluate the effect of breast cancer fatalism and other factors on breast cancer awareness among nursing students in Turkey. This cross-sectional descriptive study was conducted at three universities in the Western Black Sea region. The sample was composed of 838 nursing students. Data were collected by Personal Information Form, Powe Fatalism Inventory (PFI) and Champion's Health Belief Model Scale (CHBMS). Breast cancer fatalism perception of the students was at a low level. It was determined that students' seriousness perception was moderate, health motivation, BSE benefits and BSE self-efficacy perceptions were high, and BSE barriers and sensitivity perceptions were low. In addition, it was determined that students awareness of breast cancer was affected by breast cancer fatalism, class level, family history of breast cancer, knowledge on BSE, source of information on BSE, frequency of BSE performing, having breast examination by a healthcare professional within the last year and their health beliefs. In promoting breast cancer early diagnosis behaviour, it is recommended to evaluate fatalism perceptions and health beliefs of the students and to arrange training programs for this purpose.

  9. 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.

  10. Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Sofi Atshemyan

    2017-01-01

    Full Text Available Background. Breast cancer is one of the most common cancers in women worldwide. The germline mutations of the BRCA1 and BRCA2 genes are the most significant and well characterized genetic risk factors for hereditary breast cancer. Intensive research in the last decades has demonstrated that the incidence of mutations varies widely among different populations. In this study we attempted to perform a pilot study for identification and characterization of mutations in BRCA1 and BRCA2 genes among Armenian patients with family history of breast cancer and their healthy relatives. Methods. We performed targeted exome sequencing for BRCA1 and BRCA2 genes in 6 patients and their healthy relatives. After alignment of short reads to the reference genome, germline single nucleotide variation and indel discovery was performed using GATK software. Functional implications of identified variants were assessed using ENSEMBL Variant Effect Predictor tool. Results. In total, 39 single nucleotide variations and 4 indels were identified, from which 15 SNPs and 3 indels were novel. No known pathogenic mutations were identified, but 2 SNPs causing missense amino acid mutations had significantly increased frequencies in the study group compared to the 1000 Genome populations. Conclusions. Our results demonstrate the importance of screening of BRCA1 and BRCA2 gene variants in the Armenian population in order to identity specifics of mutation spectrum and frequencies and enable accurate risk assessment of hereditary breast cancers.

  11. [Pregnancy and breast cancer].

    Science.gov (United States)

    Ramírez-Torres, Nicolás; Asbun-Bojalil, Juan; Hernández-Valencia, Marcelino

    2013-01-01

    association of breast cancer and pregnancy is not common. The objective of this investigation was to evaluate the pregnancy, young age, stage, treatment, prognosis and mortality of women with breast cancer during pregnancy. retrospective analysis from March 1992 to February 2009, 16 patients were included with breast cancer and pregnancy. They were analized: histological characteristic of tumor, therapeutic response of the oncological treatment, evolution of the pregnancy. From of baby born: Apgar and weight. The woman's mortality with breast cancer during pregnancy was evaluated for age group and for interval of time between late pregnancy and diagnosis posterior of breast cancer and pregnancy. characteristic predominant clinicohistological: stage III (81.2%), T3-T4 (75%), N+ 93.7%, invasive ductal carcinoma (87.5%), histological grade 2-3 (93.7%), receptor estrogeno positive (43.7%); RPpositive (25%); HER-2/neu positive (31.2%). 27 chemotherapy cycles were applied with 5-fluorouracil, epirubicin and cyclophosphamide during the second or third trimester of the pregnancy, there were not severe adverse effects for the mothers and the baby born exposed to chemotherapy. The mean time to disease recurrence was 18.8 months (range, 6-62 months). The rate of mortality for specific age (breast cancer and pregnancy.

  12. Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families

    Directory of Open Access Journals (Sweden)

    Foulkes William D

    2006-03-01

    Full Text Available Abstract Background The 3398delAAAAG mutation in BRCA2 was recently found to recur in breast and/or ovarian cancer families from the French Canadian population of Quebec, a population that has genetic attributes consistent with a founder effect. To characterize the contribution of this mutation in this population, this study established the frequency of this mutation in breast and ovarian cancer cases unselected for family history of cancer, and determined if mutation carriers shared a common ancestry. Methods The frequency was estimated by assaying the mutation in series of French Canadian breast cancer cases diagnosed before age 41 (n = 60 or 80 (n = 127 years of age, and ovarian cancer cases (n = 80 unselected for family history of cancer by mutation analysis. Haplotype analysis was performed to determine if mutation carriers shared a common ancestry. Members from 11 families were analyzed using six polymorphic microsatellite markers (cen-D13S260-D13S1699-D13S1698-D13S1697-D13S1701-D13S171-tel spanning approximately a 3.6 cM interval at the chromosomal region 13q13.1, which contains BRCA2. Allele frequencies were estimated by genotyping 47 unaffected female individuals derived from the same population. Haplotype reconstruction of unaffected individuals was performed using the program PHASE. Results The recurrent BRCA2 mutation occurred in 1 of 60 (1.7% women diagnosed with breast cancer before 41 years of age and one of 80 (1.3% women with ovarian cancer. No mutation carriers were identified in the series of breast cancer cases diagnosed before age 80. Mutation carriers harboured one of two haplotypes, 7-3-9-3 – [3/4]-7, that varied with marker D13S1701 and which occurred at a frequency of 0.001. The genetic analysis of D13S1695, a polymorphic marker located approximately 0.3 cM distal to D13S171, did not favour a genetic recombination event to account for the differences in D13S1701 alleles within the haplotype. Although mutation carriers

  13. Evaluation of the Families SHARE workbook: an educational tool outlining disease risk and healthy guidelines to reduce risk of heart disease, diabetes, breast cancer and colorectal cancer.

    Science.gov (United States)

    Koehly, Laura M; Morris, Bronwyn A; Skapinsky, Kaley; Goergen, Andrea; Ludden, Amanda

    2015-11-13

    Common diseases such as heart disease, diabetes, and cancer are etiologically complex with multiple risk factors (e.g., environment, genetic, lifestyle). These risk factors tend to cluster in families, making families an important social context for intervention and lifestyle-focused disease prevention. The Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook was designed as an educational tool outlining family health history based risk of heart disease, type 2 diabetes, breast cancer, and colorectal cancer. The current paper describes the steps taken to develop and evaluate the workbook employing a user-centered design approach. The workbook was developed in four steps, culminating in an evaluation focusing on understanding and usability of the tool. The evaluation was based on two Phases of data collected from a sample of mothers of young children in the Washington, D.C., area. A baseline assessment and follow-up approximately two weeks after receipt of the workbook were conducted, as well as focus groups with participants. The design of the workbook was refined in response to participant feedback from the first evaluation Phase and subsequently re-evaluated with a new sample. After incorporating user-based feedback and revising the workbook, Phase 2 evaluation results indicated that understanding of the workbook components improved for all sections (from 6.26 to 6.81 on a 7-point scale). In addition, 100% of users were able to use the algorithm to assess their disease risk and over 60% used the algorithm to assess family members' disease risk. At follow-up, confidence to increase fruit, vegetable and fiber intake improved significantly, as well. The Families SHARE workbook was developed and evaluated resulting in a family health history tool that is both understandable and usable by key stakeholders. This educational tool will be used in intervention studies assessing the effectiveness of family genomics health educators who use the Families

  14. Is family functioning and communication associated with health-related quality of life for Chinese- and Korean-American breast cancer survivors?

    Science.gov (United States)

    Lim, Jung-won; Ashing-Giwa, Kimlin T

    2013-08-01

    This study aims to investigate direct and indirect pathways of family flexibility, social support, and family communication on health-related quality of life (HRQOL) for Chinese- and Korean-American breast cancer survivors (BCS). A total of 157 Chinese (n = 86)- and Korean-American (n = 71) BCS were recruited from the California Cancer Surveillance Program and area hospitals in Los Angeles County. The present study was guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation. Structural equation modeling demonstrated that (1) family communication was directly associated with HRQOL for both groups; (2) family flexibility was indirectly associated with HRQOL through family communication for Korean-Americans only; (3) social support mediated the relationship between family flexibility and family communication for Chinese-Americans only; and (4) acculturation was directly related to social support for both groups. Multigroup analysis demonstrated that the structural paths were equivalent between Chinese- and Korean-American BCS, although statistical differences in baseline parameters were noted. Our findings suggest that family communication impacts HRQOL among Asian-American BCS. Our results show that while there are commonalities in family characteristics among Asian-Americans, specific ethnic variations also exist. Therefore, specific cultural and familial contexts should be assessed to better inform interventions to enhance family communication strategies and improve HRQOL.

  15. Is family functioning and communication associated with health-related quality of life for Chinese- and Korean-American breast cancer survivors?

    Science.gov (United States)

    Lim, Jung-won; Ashing-Giwa, Kimlin T.

    2012-01-01

    Purpose This study aims to investigate direct and indirect pathways of family flexibility, social support, and family communication on health-related quality of life (HRQOL) for Chinese- and Korean-American breast cancer survivors (BCS). Methods A total of 157 Chinese (n = 86)- and Korean-American (n = 71) BCS were recruited from the California Cancer Surveillance Program and area hospitals in Los Angeles County. The present study was guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation. Results Structural equation modeling demonstrated that (1) family communication was directly associated with HRQOL for both groups; (2) family flexibility was indirectly associated with HRQOL through family communication for Korean-Americans only; (3) social support mediated the relationship between family flexibility and family communication for Chinese-Americans only; and (4) acculturation was directly related to social support for both groups. Multigroup analysis demonstrated that the structural paths were equivalent between Chinese- and Korean-American BCS, although statistical differences in baseline parameters were noted. Conclusions Our findings suggest that family communication impacts HRQOL among Asian-American BCS. Our results show that while there are commonalities in family characteristics among Asian-Americans, specific ethnic variations also exist. Therefore, specific cultural and familial contexts should be assessed to better inform interventions to enhance family communication strategies and improve HRQOL. PMID:22875219

  16. Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.

    Science.gov (United States)

    Elrick, Ashley; Ashida, Sato; Ivanovich, Jennifer; Lyons, Sarah; Biesecker, Barbara B; Goodman, Melody S; Kaphingst, Kimberly A

    2017-02-01

    Genetic test results have medical implications beyond the patient that extend to biological family members. We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regression models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to their son (45 %). Participants who carried a BRCA mutation (OR = 1.34; 95 % CI = 1.06, 1.70), had higher interest in genomic information (OR = 1.55; 95 % CI = 1.26, 1.91) and lower genetic worry (OR = 0.91; 95 % CI = 0.86, 0.96) communicated genetic test results to a greater proportion of their immediate family members. Participants with a BRCA1/2 mutation shared their genetic test results with more male family members (OR = 1.72; 95 % CI = 1.02, 2.89). Our findings suggest that patients with high worry about genetic risks, low interest in genomic information, or receive a negative genetic test result will likely need additional support to encourage family communication.

  17. Stereotactic Image-Guided Navigation During Breast Reconstruction in Patients With Breast Cancer

    Science.gov (United States)

    2017-04-12

    Ductal Breast Carcinoma in Situ; Lobular Breast Carcinoma in Situ; Recurrent Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage II Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer; Stage IV Breast Cancer

  18. Viruses and Breast Cancer

    Energy Technology Data Exchange (ETDEWEB)

    Lawson, James S., E-mail: james.lawson@unsw.edu.au; Heng, Benjamin [School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney (Australia)

    2010-04-30

    Viruses are the accepted cause of many important cancers including cancers of the cervix and anogenital area, the liver, some lymphomas, head and neck cancers and indirectly human immunodeficiency virus associated cancers. For over 50 years, there have been serious attempts to identify viruses which may have a role in breast cancer. Despite these efforts, the establishment of conclusive evidence for such a role has been elusive. However, the development of extremely sophisticated new experimental techniques has allowed the recent development of evidence that human papilloma virus, Epstein-Barr virus, mouse mammary tumor virus and bovine leukemia virus may each have a role in the causation of human breast cancers. This is potentially good news as effective vaccines are already available to prevent infections from carcinogenic strains of human papilloma virus, which causes cancer of the uterine cervix.

  19. Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients.

    Science.gov (United States)

    Danza, Katia; De Summa, Simona; Pilato, Brunella; Carella, Massimo; Palumbo, Orazio; Popescu, Ondina; Paradiso, Angelo; Pinto, Rosamaria; Tommasi, Stefania

    2014-11-19

    The role of miRNAs in familial breast cancer (fBC) is poorly investigated as also in the BRCA-like tumors. To identify a specific miRNA expression pattern which could allow a better fBC classification not only based on clinico-pathological and immunophenotypical parameters we analyzed miRNA profile in familial and sporadic samples. Moreover since BRCA1 tumors and sporadic triple negative (TN) breast tumors share similarities regarding clinical outcomes and some histological characteristics, we focused on TN and not TN cases. The sample set included fresh frozen tissue samples, including 39 female fBCs (19 BRCA-related and 20 BRCAX) and 12 male fBC (BRCAX). Moreover, we considered TN and non TN (NTN), 21 BRCA-related and 27 sporadic BCs. MiRNA profiling was performed through GeneChip miRNA v.1.0 Array (Affymetrix). ANOVA, hierarchical and consensus clustering analyses allowed identification of pattern of expression of miRNAs and pathway enrichment analysis, considering validated target genes, was carried out to achieve a deeper biological understanding. ANOVA test led to the identification of 53 deregulated miRNAs; hierarchical and consensus clustering of female fBCs (fFBCs) and male fBCs (fMBCs) highlighted the presence of 3 sample clusters named FBC1, FBC2 and FBC3. We found a correlation between ER-status and the three sample clusters. The three clusters are distinct by a different expression of two clusters of miRNAs (CLU1 and CLU2), which resulted to be different in targeted pathways. In particular, CLU1 targets cellular pathways and CLU2 is involved in epigenetic activities. Considering TN and NTN BRCA-related and sporadic tumors, a hierarchical clustering identified two clusters of miRNAs, which were not so different from CLU1 and CLU2, both in miRNA content and targeted pathways. Our results highlighted the importance of miRNA regulation to better clarify similarities and differences between familial and sporadic BC groups.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. Dutch digital breast cancer screening: implications for breast cancer care

    NARCIS (Netherlands)

    Timmers, Johanna M.; den Heeten, Gerard J.; Adang, Eddy M.; Otten, Johannes D.; Verbeek, André L.; Broeders, Mireille J.

    2012-01-01

    Background: In comparison to other European population-based breast cancer screening programmes, the Dutch programme has a low referral rate, similar breast cancer detection and a high breast cancer mortality reduction. The referral rate in the Netherlands has increased over time and is expected to

  2. Expression of the breast cancer resistance protein in breast cancer

    NARCIS (Netherlands)

    Faneyte, Ian F.; Kristel, Petra M. P.; Maliepaard, Marc; Scheffer, George L.; Scheper, Rik J.; Schellens, Jan H. M.; van de Vijver, Marc J.

    2002-01-01

    PURPOSE: The breast cancer resistance protein (BCRP) is involved in in vitro multidrug resistance and was first identified in the breast cancer cell line MCF7/AdrVp. The aim of this study was to investigate the role of BCRP in resistance of breast cancer to anthracycline treatment. EXPERIMENTAL

  3. Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.

    Science.gov (United States)

    Neidhardt, Guido; Hauke, Jan; Ramser, Juliane; Groß, Eva; Gehrig, Andrea; Müller, Clemens R; Kahlert, Anne-Karin; Hackmann, Karl; Honisch, Ellen; Niederacher, Dieter; Heilmann-Heimbach, Stefanie; Franke, André; Lieb, Wolfgang; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Klaschik, Kristina; Ernst, Corinna; Ditsch, Nina; Jessen, Frank; Ramirez, Alfredo; Wappenschmidt, Barbara; Engel, Christoph; Rhiem, Kerstin; Meindl, Alfons; Schmutzler, Rita K; Hahnen, Eric

    2017-09-01

    Germline mutations in established moderately or highly penetrant risk genes for breast cancer (BC) and/or ovarian cancer (OC), including BRCA1 and BRCA2, explain fewer than half of all familial BC and/or OC cases. Based on the genotyping of 2 loss-of-function (LoF) variants c.5101C>T (p.GIn1701Ter [rs147021911]) and c.5791C>T (p.Arg1931Ter [rs144567652]), the FANCM gene has been suggested as a novel BC predisposition gene, while the analysis of the entire coding region of the FANCM gene in familial index cases and geographically matched controls is pending. To assess the mutational spectrum within the FANCM gene, and to determine a potential association of LoF germline mutations within the FANCM gene with BC and/or OC risk. For the purpose of identification and characterization of novel BC and/or OC predisposition genes, a total of 2047 well-characterized familial BC index cases, 628 OC cases, and 2187 geographically matched controls were screened for LoF mutations within the FANCM gene by next-generation sequencing. All patients previously tested negative for pathogenic BRCA1 and BRCA2 mutations. All data collection occurred between June 1, 2013, and April 30, 2016. Data analysis was performed from May 1, 2016, to July 1, 2016. FANCM LoF mutation frequencies in patients with BC and/or OC were compared with the FANCM LoF mutation frequencies in geographically matched controls by univariate logistic regression. Positive associations were stratified by age at onset and cancer family history. In this case-control study, 2047 well-characterized familial female BC index cases, 628 OC cases, and 2187 geographically matched controls were screened for truncating FANCM alterations. Heterozygous LoF mutations within the FANCM gene were significantly associated with familial BC risk, with an overall odds ratio (OR) of 2.05 (95% CI, 0.94-4.54; P = .049) and a mutation frequency of 1.03% in index cases. In familial patients whose BC onset was before age 51 years, an

  4. BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

    Science.gov (United States)

    de Juan, Inmaculada; Palanca, Sarai; Domenech, Asunción; Feliubadaló, Lidia; Segura, Ángel; Osorio, Ana; Chirivella, Isabel; de la Hoya, Miguel; Sánchez, Ana Beatriz; Infante, Mar; Tena, Isabel; Díez, Orland; Garcia-Casado, Zaida; Vega, Ana; Teulé, Àlex; Barroso, Alicia; Pérez, Pedro; Durán, Mercedes; Carrasco, Estela; Juan-Fita, M José; Murria, Rosa; Llop, Marta; Barragan, Eva; Izquierdo, Ángel; Benítez, Javier; Caldés, Trinidad; Salas, Dolores; Bolufer, Pascual

    2015-12-01

    Male breast cancer (MBC) is a rare disease that represents hereditary breast and ovarian cancer syndrome (HBOCS) and clinicopathological features. We also study the relationship between BRCA1/BRCA2 mutational status in male relatives affected with cancer (MAC) and, family history and tumor types. The study included 312 men index cases with family history of HBOCS and 61 MAC BRCA1/2 mutation-carriers. Family history, histological grade (HG), clinicopathological and immunohistochemistry data were collected. BRCA1/2 mutation analyses were performed by direct sequencing or screening methods and the large rearrangements by multiplex ligation dependent probe amplification. We found 49 mutation-carriers (15.7%), 95.9% with BRCA2 mutations. BRCA2 mutation-carriers were associated with families with at least one MBC and one BC in female (type II; p = 0.05). Strong association were found between the presence of pathogenic mutations in MBCs and the advanced HG (p = 0.003). c.658_659delTG, c.2808_2811delACAA, c.6275_6276delTT and c.9026_9030delATCAT were the most prevalent mutations. In 61 MAC we found 20 mutations in BRCA1 and 41 in BRCA2. For MAC we show that mutational status was differentially associated with family history (p = 0.018) and tumor type, being BRCA2 mutations linked with BC and prostatic cancer (p = 0.018). MBC caused by BRCA1/2 mutations define two types of MBCs. The most frequent caused by BRCA2 mutation linked to type II families and the rarest one attributed to BRCA1 mutation. Tumor associated with MAC suggest that only BRCA2 mutations have to do with a specific type of cancer (BC and prostatic cancer); but the linkage to tumors is questionable for BRCA1 mutations .

  5. Preventing Breast Cancer: Making Progress

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Preventing Breast Cancer: Making Progress Past Issues / Fall 2006 Table of ... 000 women will have been diagnosed with invasive breast cancer, and nearly 41,000 women will die from ...

  6. Life After Breast Cancer Treatment

    Science.gov (United States)

    FACTS FOR LIFE Life After Breast Cancer Treatment Once breast cancer treatment ends, you may face a new set of issues and concerns. ... fear. If fear starts to disrupt your daily life, talk with your doctor. Getting the support and ...

  7. Progress in breast cancer: overview

    National Research Council Canada - National Science Library

    Arteaga, Carlos L

    2013-01-01

    This edition of CCR Focus titled Research in Breast Cancer: Frontiers in Genomics, Biology, and Clinical Investigation reviews six topics that cover areas of translational research of high impact in breast cancer...

  8. Inflammatory breast cancer: an overview

    NARCIS (Netherlands)

    Uden, D.J. van; Laarhoven, H.W.M. van; Westenberg, A.H.; Wilt, J.H. de; Blanken-Peeters, C.F.

    2015-01-01

    Inflammatory breast cancer (IBC) is the most aggressive entity of breast cancer. Management involves coordination of multidisciplinary management and usually includes neoadjuvant chemotherapy, ablative surgery if a tumor-free resection margin is expected and locoregional radiotherapy. This

  9. Adenoid cystic breast cancer.

    Science.gov (United States)

    McClenathan, James H; de la Roza, Gustavo

    2002-06-01

    Adenoid cystic carcinoma is a rare type of breast cancer that is generally reported in individual case reports or as series from major referral centers. To characterize early diagnostic criteria for adenoid cystic carcinoma and to determine whether breast-preserving surgery with radiotherapy is as effective as mastectomy for eradicating the disease, we reviewed clinical records of a large series of patients treated for adenoid cystic carcinoma of the breast at a large health maintenance organization (HMO) that includes primary care facilities and referral centers. Using the data bank of the Northern California Cancer Registry of the Kaiser Permanente Northern California Region (KPNCR), we retrospectively reviewed medical records of patients treated for adenoid cystic carcinoma of the breast. Follow-up also was done for these patients. Adenoid cystic carcinoma of the breast was diagnosed in 22 of 27,970 patients treated for breast cancer at KPNCR from 1960 through 2000. All 22 patients were female and were available for follow-up. Mean age of patients at diagnosis was 61 years (range, 37 to 94 years). In 17 (77%) of the women, a lump in the breast led to initial suspicion of a tumor; in 4 (23%) of the 22 patients, mammography led to suspicion of a tumor. Median tumor size was 20 mm. Pain was a prominent symptom. Surgical management evolved from radical and modified radical mastectomy to simple mastectomy or lumpectomy during the study period, during which time 1 patient died of previous ordinary ductal carcinoma of the contralateral breast, and 7 died of unrelated disease. At follow-up, 12 of the 13 remaining patients were free of disease; 1 patient died of the disease; and 1 patient remained alive despite late occurrence of lymph node and pulmonary metastases. Whether breast-preserving surgery with radiotherapy is as effective as mastectomy for treating adenoid cystic carcinoma of the breast has not been determined.

  10. Kindness Interventions in Enhancing Well-Being in Breast Cancer Survivors

    Science.gov (United States)

    2017-12-05

    Cancer Survivor; Stage 0 Breast Cancer; Stage I Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage II Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer; Stage IIIA Breast Cancer

  11. Cardiac Rehabilitation Program in Improving Cardiorespiratory Fitness in Stage 0-III Breast Cancer Survivors

    Science.gov (United States)

    2017-08-17

    Cancer Survivor; Stage 0 Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer

  12. The genetics of breast and ovarian cancer.

    Science.gov (United States)

    Ford, D; Easton, D F

    1995-10-01

    A number of genes are known to be involved in inherited susceptibility to breast and/or ovarian cancer. In the context of high-risk families the most important genes are BRCA1 on chromosome 17q, which is associated with a high penetrance of both breast and ovarian cancer, and BRCA2 on chromosome 13q, which causes a high risk of breast cancer but a lower risk of ovarian cancer. Other high-risk cancer genes that confer increased risks of breast or ovarian cancer in addition to other cancers include the hereditary non-polyposis colorectal cancer genes and the TP53 gene, which causes breast cancer as part of the Li-Fraumeni syndrome. The predisposing mutations in these genes are relatively rare in the population. More common genes which are associated with an increased, but lower, risk of breast cancer are the ataxiatelangiectasia gene and the HRAS1 gene. This paper reviews recent progress in mapping and cloning of these susceptibility genes, and provides estimates of the cancer risks associated with each gene and the frequency of predisposing mutations.

  13. A genome wide linkage search for breast cancer susceptibility genes

    NARCIS (Netherlands)

    Smith, Paula; McGuffog, Lesley; Easton, Douglas F.; Mann, Graham J.; Pupo, Gulietta M.; Newman, Beth; Chenevix-Trench, Georgia; Szabo, Csilla; Southey, Melissa; Renard, Hélène; Odefrey, Fabrice; Lynch, Henry; Stoppa-Lyonnet, Dominique; Couch, Fergus; Hopper, John L.; Giles, Graham G.; McCredie, Margaret R. E.; Buys, Saundra; Andrulis, Irene; Senie, Ruby; Goldgar, David E.; Oldenburg, Rogier; Kroeze-Jansema, Karin; Kraan, Jaennelle; Meijers-Heijboer, Hanne; Klijn, Jan G. M.; van Asperen, Christi; van Leeuwen, Inge; Vasen, Hans F. A.; Cornelisse, Cees J.; Devilee, Peter; Baskcomb, Linda; Seal, Sheila; Barfoot, Rita; Mangion, Jon; Hall, Anita; Edkins, Sarah; Rapley, Elizabeth; Wooster, Richard; Chang-Claude, Jenny; Eccles, Diana; Evans, D. Gareth; Futreal, P. Andrew; Nathanson, Katherine L.; Weber, Barbara L.; Rahman, Nazneen; Stratton, Michael R.

    2006-01-01

    Mutations in known breast cancer susceptibility genes account for a minority of the familial aggregation of the disease. To search for further breast cancer susceptibility genes, we performed a combined analysis of four genome-wide linkage screens, which included a total of 149 multiple case breast

  14. Clinical proteomics in breast cancer

    NARCIS (Netherlands)

    Gast, M.C.W.

    2009-01-01

    Breast cancer imposes a significant healthcare burden on women worldwide. Early detection is of paramount importance in reducing mortality, yet the diagnosis of breast cancer is hampered by a lack of adequate detection methods. In addition, better breast cancer prognostication may improve selection

  15. Breast cancer in the elderly

    African Journals Online (AJOL)

    breast cancer at the University of Benin Teaching Hospital, Nigeria. Of these, 27. (25.2%) were aged 60 years ... and physician vigilance are keys to early detection and treatment of breast cancer in the elderly. INTRODUCTION ..... Law TM, Hesketli PJ, Porter KA, Lawn-Tsao L,. McAxiaw R and Lopez MJ. Breast cancer in eld ...

  16. Omega-3 Fatty Acid in Treating Patients With Stage I-III Breast Cancer

    Science.gov (United States)

    2017-05-30

    Ductal Breast Carcinoma in Situ; Lobular Breast Carcinoma in Situ; Male Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage II Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer

  17. Hypofractionated Radiation Therapy in Treating Patients With Stage 0-IIB Breast Cancer

    Science.gov (United States)

    2017-12-05

    Ductal Breast Carcinoma In Situ; Invasive Breast Carcinoma; Stage 0 Breast Cancer; Stage I Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage II Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer

  18. Pregnancy associated breast cancer and pregnancy after breast cancer treatment

    Science.gov (United States)

    Doğer, Emek; Çalışkan, Eray; Mallmann, Peter

    2011-01-01

    Breast cancer is one of the most common cancers diagnosed during pregnancy and its frequency is increasing as more women postpone their pregnancies to their thirties and forties. Breast cancer diagnosis during pregnancy and lactation is difficult and complex both for the patient and doctors. Delay in diagnosis is frequent and treatment modalities are difficult to accept for the pregnant women. The common treatment approach is surgery after diagnosis, chemotherapy after the first trimester and radiotherapy after delivery. Even though early stage breast cancers have similar prognosis, advanced stage breast cancers diagnosed during pregnancy and lactation have poorer prognosis than similar stage breast cancers diagnosed in non-pregnant women. Women who desire to become pregnant after treatment of breast cancer will have many conflicts. Although the most common concern is recurrence of breast cancer due to pregnancy, the studies conducted showed that pregnancy has no negative effect on breast cancer prognosis. In this review we search for the frequency of breast cancer during pregnancy, the histopathological findings, risk factor, diagnostic and treatment modalities. We reviewed the literature for evidence based findings to help consult the patients on the outcome of breast cancer diagnosed during pregnancy and lactation, and also inform the patients who desire to become pregnant after breast cancer according to current evidences. PMID:24592003

  19. Epigenetic regulation by Z-DNA silencer function controls cancer-associated ADAM-12 expression in breast cancer: cross-talk between MeCP2 and NF1 transcription factor family.

    Science.gov (United States)

    Ray, Bimal K; Dhar, Srijita; Henry, Carolyn; Rich, Alexander; Ray, Alpana

    2013-01-15

    A disintegrin and metalloprotease domain-containing protein 12 (ADAM-12) is upregulated in many human cancers and promotes cancer metastasis. Increased urinary level of ADAM-12 in breast and bladder cancers correlates with disease progression. However, the mechanism of its induction in cancer remains less understood. Previously, we reported a Z-DNA-forming negative regulatory element (NRE) in ADAM-12 that functions as a transcriptional suppressor to maintain a low-level expression of ADAM-12 in most normal cells. We now report here that overexpression of ADAM-12 in triple-negative MDA-MB-231 breast cancer cells and breast cancer tumors is likely due to a marked loss of this Z-DNA-mediated transcriptional suppression function. We show that Z-DNA suppressor operates by interaction with methyl-CpG-binding protein, MeCP2, a prominent epigenetic regulator, and two members of the nuclear factor 1 family of transcription factors, NF1C and NF1X. While this tripartite interaction is highly prevalent in normal breast epithelial cells, both in vitro and in vivo, it is significantly lower in breast cancer cells. Western blot analysis has revealed significant differences in the levels of these 3 proteins between normal mammary epithelial and breast cancer cells. Furthermore, we show, by NRE mutation analysis, that interaction of these proteins with the NRE is necessary for effective suppressor function. Our findings unveil a new epigenetic regulatory process in which Z-DNA/MeCP2/NF1 interaction leads to transcriptional suppression, loss of which results in ADAM-12 overexpression in breast cancer cells.

  20. Affluence and Breast Cancer.

    Science.gov (United States)

    Lehrer, Steven; Green, Sheryl; Rosenzweig, Kenneth E

    2016-09-01

    High income, high socioeconomic status, and affluence increase breast cancer incidence. Socioeconomic status in USA breast cancer studies has been assessed by block-group socioeconomic measures. A block group is a portion of a census tract with boundaries that segregate, as far as possible, socioeconomic groups. In this study, we used US Census income data instead of block groups to gauge socioeconomic status of breast cancer patients in relationship with incidence, prognostic markers, and survival. US state breast cancer incidence and mortality data are from the U.S. Cancer Statistics Working Group, United States Cancer Statistics: 1999-2011. Three-Year-Average Median Household Income by State, 2010 to 2012, is from the U.S. Census Bureau, Current Population Survey, 2011 to 2013 Annual Social and Economic Supplements. County incomes are from the 2005-2009 American Community Survey of the U.S. Census Bureau. The American Community Survey is an ongoing statistical survey that samples a small percentage of the population yearly. Its purpose is to provide communities the information they need to plan investments and services. Breast cancer county incidence and survival data are from the National Cancer Institute's Surveillance, Epidemiology and End Results Program (SEER) data base. We analyzed SEER data from 198 counties in California, Connecticut, Georgia, Hawaii, Iowa, New Mexico, Utah, and Washington. SEER uses the Collaborative Stage (CS) Data Collection System. We have retained the SEER CS variables. There was a significant relationship of income with breast cancer incidence in 50 USA states and the District of Columbia in White women (r = 0.623, p breast cancer. Income was not correlated with 5-year survival of Black race (p = 0.364) or other races (p = 0.624). The multivariate general linear model with income as covariate, 5-year survival by race as a dependent variable, showed a significant effect of income and White race on 5-year survival (p breast cancer

  1. Combining quantitative and qualitative breast density measures to assess breast cancer risk.

    Science.gov (United States)

    Kerlikowske, Karla; Ma, Lin; Scott, Christopher G; Mahmoudzadeh, Amir P; Jensen, Matthew R; Sprague, Brian L; Henderson, Louise M; Pankratz, V Shane; Cummings, Steven R; Miglioretti, Diana L; Vachon, Celine M; Shepherd, John A

    2017-08-22

    Accurately identifying women with dense breasts (Breast Imaging Reporting and Data System [BI-RADS] heterogeneously or extremely dense) who are at high breast cancer risk will facilitate discussions of supplemental imaging and primary prevention. We examined the independent contribution of dense breast volume and BI-RADS breast density to predict invasive breast cancer and whether dense breast volume combined with Breast Cancer Surveillance Consortium (BCSC) risk model factors (age, race/ethnicity, family history of breast cancer, history of breast biopsy, and BI-RADS breast density) improves identifying women with dense breasts at high breast cancer risk. We conducted a case-control study of 1720 women with invasive cancer and 3686 control subjects. We calculated ORs and 95% CIs for the effect of BI-RADS breast density and Volpara™ automated dense breast volume on invasive cancer risk, adjusting for other BCSC risk model factors plus body mass index (BMI), and we compared C-statistics between models. We calculated BCSC 5-year breast cancer risk, incorporating the adjusted ORs associated with dense breast volume. Compared with women with BI-RADS scattered fibroglandular densities and second-quartile dense breast volume, women with BI-RADS extremely dense breasts and third- or fourth-quartile dense breast volume (75% of women with extremely dense breasts) had high breast cancer risk (OR 2.87, 95% CI 1.84-4.47, and OR 2.56, 95% CI 1.87-3.52, respectively), whereas women with extremely dense breasts and first- or second-quartile dense breast volume were not at significantly increased breast cancer risk (OR 1.53, 95% CI 0.75-3.09, and OR 1.50, 95% CI 0.82-2.73, respectively). Adding continuous dense breast volume to a model with BCSC risk model factors and BMI increased discriminatory accuracy compared with a model with only BCSC risk model factors (C-statistic 0.639, 95% CI 0.623-0.654, vs. C-statistic 0.614, 95% CI 0.598-0.630, respectively; P breasts and fourth

  2. Hereditary breast and ovarian cancer

    DEFF Research Database (Denmark)

    Nielsen, Finn Cilius; Hansen, Thomas van Overeem; Sørensen, Claus Storgaard

    2016-01-01

    Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among...... of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making....... affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing...

  3. Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy

    Directory of Open Access Journals (Sweden)

    Miolo GianMaria

    2006-06-01

    Full Text Available Abstract Background Breast cancer in men is an infrequent occurrence, accounting for ~1% of all breast tumors with an incidence of about 1:100,000. The relative rarity of male breast cancer (MBC limits our understanding of the epidemiologic, genetic and clinical features of this tumor. Methods From 1997 to 2003, 10 MBC patients were referred to our Institute for genetic counselling and BRCA1/2 testing. Here we report on the genetic and phenotypic characterization of 10 families with MBC from the North East of Italy. In particular, we wished to assess the occurrence of specific cancer types in relatives of MBC probands in families with and without BRCA2 predisposing mutations. Moreover, families with recurrent BRCA2 mutations were also characterized by haplotype analysis using 5 BRCA2-linked dinucleotide repeat markers and 8 intragenic BRCA2 polymorphisms. Results Two pathogenic mutations in the BRCA2 gene were observed: the 9106C>T (Q2960X and the IVS16-2A>G (splicing mutations, each in 2 cases. A BRCA1 mutation of uncertain significance 4590C>G (P1491A was also observed. In families with BRCA2 mutations, female breast cancer was more frequent in the first and second-degree relatives compared to the families with wild type BRCA1/2 (31.9% vs. 8.0% p = 0.001. Reconstruction of the chromosome phasing in three families and the analysis of three isolated cases with the IVS16-2A>G BRCA2 mutation identified the same haplotype associated with MBC, supporting the possibility that this founder mutation previously detected in Slovenian families is also present in the North East of our Country. Moreover, analysis of one family with the 9106C>T BRCA2 mutation allowed the identification of common haplotypes for both microsatellite and intragenic polymorphisms segregating with the mutation. Three isolated cases with the same mutation shared the same intragenic polymorphisms and three 5' microsatellite markers, but showed a different haplotype for 3' markers

  4. Genetic factors and breast cancer laterality

    Directory of Open Access Journals (Sweden)

    Amer MH

    2014-04-01

    Full Text Available Magid H Amer Department of Medicine, St Rita's Medical Center, Lima, OH, USA Background: Women are more likely to develop cancer in the left breast than the right. Such laterality may influence subsequent management, especially in elderly patients with heart disease who may require radiation therapy. The purpose of this study was to explore possible factors for such cancer laterality. Methods: In this work, clinical data for consecutive patients with histologically confirmed breast cancer were reviewed, with emphasis on clinical presentation and family history. Results: Between 2005 and 2012, 687 patients with breast cancer were seen. Two women with incomplete data and eleven men were excluded. In total, 343 (50.9% patients presented with left breast cancer, 311 (46.1% with right breast cancer, and 20 (3.0% with simultaneous bilateral malignancy. There were no significant differences between the three groups, especially in regards to clinical presentation and tumor characteristics. A total of 622 (92.3% patients had unilateral primary, 20 (3.0% had simultaneous bilateral, and 32 (4.7% had metachronous primary breast cancer with subsequent contralateral breast cancer after 7.5–236 months. The worst 10-year survival was for bilateral simultaneous (18% compared with unilateral (28% and metachronous primaries (90%. There were no differences in survival in relation to breast cancer laterality, handedness, and presence or absence of a family history of cancer. There were significant similarities between patients and first-degree relatives in regards to breast cancer laterality, namely same breast (30/66, 45.5%, opposite breast (9/66, 13.6%, and bilateral cancer (27/66, 40.9, P=0.01163. This was more evident among patients and their sisters (17/32, 53.1% or mothers (11/27, 40.7%, P=0.0689. There were also close similarities in relation to age at initial diagnosis of cancer for patients and their first-degree relatives for age differences of ≤5

  5. Family History of Breast Cancer as a Determinant of the Risk of Developing Endometrial and Ovarian Cancers: A Nationwide Cohort Study

    Science.gov (United States)

    2002-01-01

    Stovall M, Lisco H, Moloney WC, Austin DF, Bosch A, Cookfair DL, et al.Radiation dose and second cancer risk in patients treated for cancer of the...Duda RB, Mayzel KA, Isselbacher KJ, Friend SH, Haber DA. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer... Haber DA. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N Engl J Med 1997; 336:1416-21. Ku J.L., Yoon K.A., Kim D.Y

  6. Pregnancy-associated Breast Cancer.

    Science.gov (United States)

    Case, Ashley S

    2016-12-01

    Breast cancer is one of the most common malignancies affecting pregnancy. Pregnancy-associated breast cancer refers to breast cancer that is diagnosed during pregnancy or within the first postpartum year. The incidence is increasing as more women delay childbearing. Breast cancer can be safely diagnosed, staged, and treated during pregnancy while protecting the fetus and mother with excellent outcomes for both. Avoiding diagnostic delays is vital to prognosis. This article provides an overview of the diagnosis, staging, management, and prognosis of pregnancy-associated breast cancer. Relevant current literature is reviewed.

  7. Abortion, Miscarriage, and Breast Cancer Risk

    Science.gov (United States)

    ... of Breast & Gynecologic Cancers Breast Cancer Screening Research Abortion, Miscarriage, and Breast Cancer Risk: 2003 Workshop In ... cancer risk, including studies of induced and spontaneous abortions. They concluded that having an abortion or miscarriage ...

  8. Accelerated Radiation Therapy After Surgery in Treating Patients With Breast Cancer

    Science.gov (United States)

    2017-11-15

    Inflammatory Breast Cancer; Invasive Ductal Breast Carcinoma; Invasive Lobular Breast Carcinoma; Mucinous Ductal Breast Carcinoma; Papillary Ductal Breast Carcinoma; Stage II Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer; Tubular Ductal Breast Carcinoma

  9. Social inequality in breast, lung and colorectal cancers

    DEFF Research Database (Denmark)

    Søndergaard, Grethe; Mortensen, Laust Hvas; Andersen, Anne-Marie Nybo

    2013-01-01

    To examine whether family factors shared by siblings explained the association between education and risk of lung, colorectal and breast cancer.......To examine whether family factors shared by siblings explained the association between education and risk of lung, colorectal and breast cancer....

  10. Does Aluminium Trigger Breast Cancer?

    OpenAIRE

    Peter Jennrich; Claus Schulte-Uebbing

    2016-01-01

    Summary. Breast cancer is by far the most common cancer in women in the western world. In 90% of breast cancers, environmental factors are among the causes. The frequency with which the tumour occurs in the outer upper part of the breast has risen with above average rates in recent decades. Aluminium salts as ingredients in deodorants and antiperspirants are being absorbed by the body to a greater extent than hitherto assumed. Their toxicity for healthy and diseased breast tissue cells includ...

  11. Increased prevalence of lung, breast and pancreatic cancers in addition to melanoma risk in families bearing the CDKN2A mutation: Implications for genetic counseling

    Science.gov (United States)

    Potrony, Miriam; Puig-Butillé, Joan Anton; Aguilera, Paula; Badenas, Celia; Carrera, Cristina; Malvehy, Josep; Puig, Susana

    2014-01-01

    BACKGROUND CDKN2A is the major high-risk susceptibility gene for melanoma. OBJECTIVE To evaluate the effect of CDKN2A mutations in high-risk Spanish melanoma patients and the association with clinical and family history features. METHODS A cross-sectional study design was used to analyze the CDKN2A impact in 702 Spanish patients with a high-risk of developing melanoma. RESULTS The CDKN2A mutation prevalence was 8.5% in sporadic multiple primary melanoma patients and 14.1% in familial melanoma. Number of cases in the family, number of primary melanomas and age of onset were associated with the presence of CDKN2A mutation. Having a CDKN2A mutation in the family increased the prevalence of other cancers (PR=2.99, p=0.012), pancreatic (PR=2.97, p=0.006), lung (PR=3.04, pMelanoma-prone families with mutations in CDKN2A have an increased prevalence of a broad spectrum of cancers including lung, pancreatic and breast cancer. This information should be included in genetic counseling and cancer prevention programs for CDKN2A mutation carriers. PMID:25064638

  12. 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

  13. Pertuzumab, Trastuzumab, and Paclitaxel Albumin-Stabilized Nanoparticle Formulation in Treating Patients With HER2-Positive Advanced Breast Cancer

    Science.gov (United States)

    2017-09-08

    HER2-positive Breast Cancer; Recurrent Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer; Stage IV Breast Cancer; Breast Adenocarcinoma; Inflammatory Breast Carcinoma

  14. Mammographic breast density and breast cancer risk: interactions of percent density, absolute dense, and non-dense areas with breast cancer risk factors.

    Science.gov (United States)

    Yaghjyan, Lusine; Colditz, Graham A; Rosner, Bernard; Tamimi, Rulla M

    2015-02-01

    We investigated if associations of breast density and breast cancer differ according to the level of other known breast cancer risk factors, including body mass index (BMI), age at menarche, parity, age at first child's birth, age at menopause, alcohol consumption, a family history of breast cancer, a history of benign breast disease, and physical activity. This study included 1,044 postmenopausal incident breast cancer cases diagnosed within the Nurses' Health Study cohort and 1,794 matched controls. Percent breast density, absolute dense, and non-dense areas were measured from digitized film images with computerized techniques. Information on breast cancer risk factors was obtained prospectively from biennial questionnaires. Percent breast density was more strongly associated with breast cancer risk in current postmenopausal hormone users (≥50 vs. 10 %: OR 5.34, 95 % CI 3.36-8.49) as compared to women with past (OR 2.69, 95 % CI 1.32-5.49) or no hormone history (OR 2.57, 95 % CI 1.18-5.60, p-interaction = 0.03). Non-dense area was inversely associated with breast cancer risk in parous women, but not in women without children (p-interaction = 0.03). Associations of density with breast cancer risk did not differ by the levels of BMI, age at menarche, parity, age at first child's birth, age at menopause, alcohol consumption, a family history of breast cancer, a history of benign breast disease, and physical activity. Women with dense breasts, who currently use menopausal hormone therapy are at a particularly high risk of breast cancer. Most breast cancer risk factors do not modify the association between mammographic breast density and breast cancer risk.

  15. Couple relationships in families with dependent children after a diagnosis of maternal breast cancer in the United Kingdom: Perspectives from mothers and fathers.

    Science.gov (United States)

    Corney, Roslyn; Puthussery, Shuby; Swinglehurst, Jane

    2016-01-01

    This article examines the facilitators and the barriers to couple relationships in families in the UK with dependent children after a diagnosis of maternal breast cancer. Qualitative data were collected through in-depth semi-structured interviews with 23 participants, including 10 couples and three women whose partners did not take part. Recorded interviews were analyzed using a thematic approach identifying themes and patterns in the interview transcripts and categorizing them using a framework. Key individual and contextual factors perceived as barriers or facilitators to couple relationships included: being a "young" family with young children, frustration and resentment from male partners, women's reactions to the illness, individual communication styles, differing needs for "personal space," body image concerns, and social support. Findings indicated the need for strengthening "family focus" in services with adequate support for male partners. Health and family services should consider variability in the experiences of couples with dependent children and be sensitive to the needs of partners alongside the women.

  16. Breast Cancer - Early Diagnosis

    Centers for Disease Control (CDC) Podcasts

    2011-04-28

    This podcast answers a listener's question about how to tell if she has breast cancer.  Created: 4/28/2011 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 4/28/2011.

  17. Latina Breast Cancer Patients and Their Informal Support System

    National Research Council Canada - National Science Library

    Hayes-Bautista, David

    2001-01-01

    ... consisting of Latina cancer patients, their spouses/significant others and family/friends. Participants are drawn from the Breast Cancer Treatment fund, which provides payment for services for uninsured women. Findings...

  18. Radiation as a cause of breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    Simon, N.; Silverstone, S.M.

    1976-09-01

    The possible role of radiation as a factor in the causation of breast cancer was investigated. Some variables said to be associated with a high risk of breast cancer include genetic factors, pre-existing breast disease, artificial menopause, family history of breast cancer, failure to breast feed, older than usual age at time of first pregnancy, high socioeconomic status, specific blood groups, fatty diet, obesity, and hormonal imbalances. To this list we must add ionizing radiation as an additional and serious risk factor in the causation of breast cancer. Among the irradiated groups which have an increase in the incidence of cancer of the breast are: tuberculous women subjected to repeated fluoroscopy; women who received localized x-ray treatments for acute post-partum mastitis; atom-bomb survivors; other x-ray exposures involving the breast, including irradiation in children and in experimental animals; and women who were treated with x rays for acne or hirsuitism. The dose of radiation received by the survivors of the atom bomb who subsequently developed cancer of the breast ranged from 80 to 800 rads, the tuberculous women who were fluoroscoped received an estimated 50 to 6,000 rads, the women who were treated for mastitis probably were exposed to 30 to 700 rads, and the patients with acne received 100 to 6,000 rads. These imprecise estimates are compared with mammographic doses in the range of 10s of rads to the breast at each examination, an imprecise estimate depending on technique and equipment. However imprecise these estimates may be, it is apparent that younger women are more likely than older women to develop cancer from exposure to radiation. It is pointed out that the American Cancer Society advises that women under 35 years should have mammography only for medical indication, not for so-called screening.

  19. Distinct claudin expression characterizes BRCA1-related breast cancer

    NARCIS (Netherlands)

    van Voss, Marise R. Heerma; van Diest, Paul J.; Smolders, Yvonne H. C. M.; Bart, Joost; van der Wall, Elsken; van der Groep, Petra

    2014-01-01

    AimsMembers of the claudin family are involved in cancer progression and are differentially expressed in subtypes of breast cancer. Breast cancers in BRCA1 germ line mutation carriers have distinct clinicopathological characteristics. Biomarkers that discriminate between BRCA1-related and sporadic

  20. 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...

  1. Cytokines, Neovascularization and Breast Cancer

    Science.gov (United States)

    1996-10-01

    Rationale Angiogenesis is important in the growth and metastases of human breast cancer . We hypothesize that this process is under the control of...staining patern seen in invasive cancer , in situ cancer , and benign breast tissue. Note that staining was graded as the most intensly staining area. The...blocked, tumors do not grow or metastasize . The purpose of this study was to demonstrate that breast cancer cells are capable of participating in this

  2. Hormone therapy for breast cancer

    Science.gov (United States)

    ... of benefits: Taking Tamoxifen for 5 years after breast cancer surgery cuts the chance of cancer coming back by half. Some studies show that taking it for 10 years may work even better. It reduces the risk that cancer ...

  3. Two novel variants in the 3?UTR of the BRCA1 gene in familial breast and/or ovarian cancer

    OpenAIRE

    2010-01-01

    Abstract For the majority of breast and/or ovarian cancer patients tested for BRCA1/2 genes, mutation screening of the coding regions remains negative. MicroRNAs which negatively regulate mRNA translation by binding to 3? untranslated region (3?UTR) are implicated in cancer. Genetic changes in the 3?UTR of several genes were reported to be associated with higher susceptibility to particular tumor types. The aim of this study was to analyze the BRCA1 3?UTR in patients tested negativ...

  4. New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families.

    Science.gov (United States)

    Cherdyntseva, Nadezda; Gervas, Polina; Voropaeva, Elena; Denisov, Evgeny; Pisareva, Lubov; Malinovskaya, Elena; Maksimov, Vladimir; Voevoda, Michail; Perinov, Dmitriy; Panferova, Yelena; Cherdyntsev, Evgeny; Choynzonov, Evgeny

    2017-01-01

    The BRCA1 mutations that are endemic to the Slavic population of Russia have not been identified among indigenous peoples, including the Buryats, Tuvinians and Altaians with hereditary breast cancer. This study was aimed to identify the mutations that are responsible for the occurrence of hereditary breast cancer in the indigenous population of the Republic of Buryatia. Mutations in the BRCA1 gene were identified in blood samples by Sanger-based sequencing. We identified 11 polymorphisms (10 SNPs and 1 Indel) and 6 new unclassified sequence variants in the BRCA1 gene. In our study three new sequence variants (c.321T>A, c.366T>A, c.4357+2T>A) were found in position of previously described polymorphisms in dbSNPs: rs80357544 (c.321delT), rs190900046 (c.366T>G), and rs80358152 (c.4357+2T>C), respectively. Other three new sequence variants (c.3605A>G, c.1998A>C, and c.80+13A>C) have not been previously described in dbSNP, BIC and Human Gene Mutation Databases. We described six new sequence variants that have never been published in the literature or databases. Further studies are required to confirm the impact of new sequence variants on the risk of breast cancer in the Buryat Mongol population.

  5. Genetic predisposition to breast cancer: past, present, and future.

    Science.gov (United States)

    Turnbull, Clare; Rahman, Nazneen

    2008-01-01

    In recent years, our understanding of genetic predisposition to breast cancer has advanced significantly. Three classes of predisposition factors, categorized by their associated risks of breast cancer, are currently known. BRCA1 and BRCA2 are high-penetrance breast cancer predisposition genes identified by genome-wide linkage analysis and positional cloning. Mutational screening of genes functionally related to BRCA1 and/or BRCA2 has revealed four genes, CHEK2, ATM, BRIP1, and PALB2; mutations in these genes are rare and confer an intermediate risk of breast cancer. Association studies have further identified eight common variants associated with low-penetrance breast cancer predisposition. Despite these discoveries, most of the familial risk of breast cancer remains unexplained. In this review, we describe the known genetic predisposition factors, expound on the methods by which they were identified, and consider how further technological and intellectual advances may assist in identifying the remaining genetic factors underlying breast cancer susceptibility.

  6. Fertility after breast cancer treatment.

    Science.gov (United States)

    Kasum, Miro; Beketić-Orešković, Lidija; Peddi, Parvin F; Orešković, Slavko; Johnson, Rebecca H

    2014-02-01

    In many countries of the developed world, there is an increasing trend toward delay in childbearing from 30 to 40 years of age for various reasons. This is unfortunately concordant with an increasing incidence of breast cancer in women who have not yet completed their family. The current choice for premenopausal women with breast cancer is adjuvant therapy which includes cytotoxic chemotherapy, ovarian ablation (by surgery, irradiation, or chemical ovarian suppression), anti-estrogen therapy, or any combination of these. Although the use of adjuvant therapies with cytotoxic drugs can significantly reduce mortality, it raises issues of the long-term toxicity, such as induction of an early menopause and fertility impairment. The risk of infertility is a potential hardship to be faced by the patients following treatment of breast cancer. The offspring of patients who became pregnant after completion of chemotherapy have shown no adverse effects and congenital anomalies from the treatment, but sometimes high rates of abortion (29%) and premature deliveries with low birth weight (40%) have been demonstrated. Therefore, the issue of recent cytotoxic treatment remains controversial and further research is required to define a "safety period" between cessation of treatment and pregnancy. Preservation of fertility in breast cancer survivors of reproductive age has become an important issue regarding the quality of life. Currently, there are several potential options, including all available assisted technologies, such as in vitro fertilization and embryo transfer, in vitro maturation, oocyte and embryo cryopreservation, and cryopreservation of ovarian tissue. Because increased estrogen levels are thought to be potentially risky in breast cancer patients, recently developed ovarian stimulation protocols with the aromatase inhibitor letrozole and tamoxifen appear to provide safe stimulation with endogenous estrogen. Embryo cryopreservation seems to be the most established

  7. Opioids and breast cancer recurrence

    DEFF Research Database (Denmark)

    Cronin-Fenton, Deirdre P; Heide-Jørgensen, Uffe; Ahern, Thomas P

    2015-01-01

    BACKGROUND: Opioids may alter immune function, thereby potentially affecting cancer recurrence. The authors investigated the association between postdiagnosis opioid use and breast cancer recurrence. METHODS: Patients with incident, early stage breast cancer who were diagnosed during 1996 through...... 2008 in Denmark were identified from the Danish Breast Cancer Cooperative Group Registry. Opioid prescriptions were ascertained from the Danish National Prescription Registry. Follow-up began on the date of primary surgery for breast cancer and continued until breast cancer recurrence, death......, emigration, 10 years, or July 31, 2013, whichever occurred first. Cox regression models were used to compute hazard ratios and 95% confidence intervals associating breast cancer recurrence with opioid prescription use overall and by opioid type and strength, immunosuppressive effect, chronic use (≥6 months...

  8. [Mothers with breast cancer and their children: initial results regarding the effectiveness of the family oriented oncological rehabilitation program "gemeinsam gesund werden"].

    Science.gov (United States)

    John, Katja; Becker, Katja; Mattejat, Fritz

    2010-01-01

    When a parent has a serious somatic illness, children suffer grave distress, their risk to develop a mental disorder increases. Sick mothers, in comparison to patients without children, experience additional strain, e. g. because they worry about their children. Although many studies focus on the quality of life of breast cancer patients, little is known about the special situation of young mothers with breast cancer. Currently, a prospective study with four assessment points (pre, post, 3- and 12-months-follow-up) is conducted on a large sample of women taking part in the family-oriented inpatient rehabilitation program "gemeinsam gesund werden'. In this paper a longitudinal sample of 173 women and 153 children, their quality of life and psychological impairment prior to, after and in the course of one year after the rehabilitation is presented. Compared to the general population, the children as well as the mothers are considerably impaired, especially in regard to Psychological Health/Emotional Functioning. These impairments improve markedly within the survey period. One year after the rehabilitation, the children show no more impairment than the reference groups. The mothers improve significantly as well, however, after one year their quality of life scores are still lower than those of the general population. In conclusion, a considerable impairment of the analyzed group of mothers with breast cancer and their children, the necessity of special supportive measures as well as the effectiveness of the model rehabilitation program can be shown.

  9. 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.

  10. Breast-Conserving Surgery Followed by Radiation Therapy With MRI-Detected Stage I or Stage II Breast Cancer

    Science.gov (United States)

    2011-12-07

    Ductal Breast Carcinoma in Situ; Estrogen Receptor-negative Breast Cancer; Estrogen Receptor-positive Breast Cancer; HER2-negative Breast Cancer; HER2-positive Breast Cancer; Invasive Ductal Breast Carcinoma; Invasive Lobular Breast Carcinoma; Male Breast Cancer; Medullary Ductal Breast Carcinoma With Lymphocytic Infiltrate; Mucinous Ductal Breast Carcinoma; Papillary Ductal Breast Carcinoma; Progesterone Receptor-negative Breast Cancer; Progesterone Receptor-positive Breast Cancer; Stage I Breast Cancer; Stage II Breast Cancer; Tubular Ductal Breast Carcinoma

  11. MODERN VIEWS ON BILATERAL BREAST CANCER

    Directory of Open Access Journals (Sweden)

    Ye. A. Fesik

    2014-01-01

    Full Text Available Presented modern literature data on the features of the pathogenesis, course, clinical and morphological expression and tumor characteristics, parameters and nodal metastasis of hematogenous bilateral breast cancer. Highlight the results of domestic and foreign studies in recent years to determine the prognostic factors and recurrence of synchronous and metachronous bilateral breast cancer. It was revealed that the frequency of bilateral breast tumor lesions varies widely, ranging from 0.1 to 20%, with metachronous tumors recorded significantly higher (69.6% than the synchronous (22.7%. The probability of occurrence of metachronous breast cancer is higher in women with a family history, as well as if they have a gene mutation BRCA-1. Found that the most common histological type of breast tumor with bilateral lesions is invasive ductal. However, the incidence of invasive lobular cancer and non-invasive lobular cancer is slightly higher among synchronous bilateral cancer compared with unilateral disease. Studies have shown that in a double-sided synchronous breast cancer tumor, as a rule, has a lower degree of differentiation, and the higher the expression level of estrogen receptors and progesterone receptors. Relevance of the issue because the identification of patterns in the study of lymphatic and hematogenous features bilateral metastasis of mammary tumors provides a basis for speculation about the differences in the progression of neoplastic disease in these groups and is a cause for further detailed research in this area to identify and evaluate the prognosis and also the choice of tactics of such patients.

  12. Axillary Lymph Nodes and Breast Cancer

    Science.gov (United States)

    ... nodes . The axillary nodes are the first place breast cancer is likely to spread. During breast surgery, some ... if cancer cells are present. This helps determine breast cancer stage and guide treatment. So, it is more ...

  13. Breast cancer fear in African American breast cancer survivors.

    Science.gov (United States)

    Gibson, Lynette M; Thomas, Sheila; Parker, Veronica; Mayo, Rachel; Wetsel, Margaret Ann

    2014-01-01

    The purpose of this study was to describe breast cancer fear according to phase of survivorship, determine whether breast cancer fear levels differed among survivorship phases, and determine the relationship between fear and age in African-American breast cancer survivors. The study utilized secondary data analysis from the study, Inner Resources as Predictors of Psychological Well-Being in AABCS. A new subscale entitled, "Breast Cancer Fear" was adapted from the Psychological Well Being Subscale by Ferrell and Grant. There was no significant difference between fear and phase of survivorship. There was a significant positive relationship between age and fear.

  14. GATA3 and TRPS1 are distinct biomarkers and prognostic factors in breast cancer: database mining for GATA family members in malignancies.

    Science.gov (United States)

    Lin, Hao-Yu; Zeng, De; Liang, Yuan-Ke; Wei, Xiao-Long; Chen, Chun-Fa

    2017-05-23

    GATA transcription factors are zinc finger DNA binding proteins that activate transcription during development and cell differentiation. To date, 7 members of GATA family have been reported. However, the expression patterns and the exact roles of distinct GATA family members contributing to tumorigenesis and progression of breast cancer (BC) remain to be elucidated. Here, we studied the expression of GATA transcripts in a variety of tumor types compared with the normal controls using the ONCOMINE and GOBO databases, along with their corresponding expression profiles in an array of cancer cell lines through CCLE analysis. Based on Kaplan-Meier plotter, we further investigated the prognostic values of GATA members specifically high expressed in BC patients. It was found that, when compared with normal tissues, GATA3 and TRPS1 were distinctly high expressed in BC patients among all GATA members. GATA3 expression was significantly associated with ESR1, while TRPS1 was correlated with ERBB2. In survival analysis, GATA3 and TRPS1 mRNA high expressions were correlated to better survival in BC patients, and TRPS1 high expression was significantly associated with longer RFS in patients who have received chemotherapy. These results suggest that GATA3 and TRPS1 are distinct biomarkers and essential prognostic factors for breast cancer.

  15. Getting free of breast cancer

    DEFF Research Database (Denmark)

    Halttunen, Arja; Hietanen, P; Jallinoja, P

    1992-01-01

    Twenty-two breast cancer patients who were relapse-free and had no need for cancer-related treatment were interviewed 8 years after mastectomy in order to evaluate their feelings of getting free of breast cancer and the meaning of breast cancer in their lives. The study is a part of an intervention...... and follow-up study of 57 breast cancer patients. Half of the 22 patients still had frequent or occasional thoughts of recurrence and over two-thirds still thought they had not been 'cured' of cancer. More than half of the patients admitted that going through breast cancer had made them more mature. Women...... who had less thoughts of recurrence belonged to a group that had gone through an eight-week group psychotherapy intervention, were less depressed and had more other illnesses. Women who felt 'cured' had less limitations and restrictions due to cancer and belonged more often to higher social classes...

  16. Reproduction and Breast Cancer Risk

    Science.gov (United States)

    Hanf, Volker; Hanf, Dorothea

    2014-01-01

    Summary Reproduction is doubtlessly one of the main biological meanings of life. It is therefore not surprising that various aspects of reproduction impact on breast cancer risk. Various developmental levels may become targets of breast tumorigenesis. This review follows the chronologic sequence of events in the life of a female at risk, starting with the intrauterine development. Furthermore, the influence of both contraceptive measures and fertility treatment on breast cancer development is dealt with, as well as various pregnancy-associated factors, events, and perinatal outcomes. Finally, the contribution of breast feeding to a reduced breast cancer risk is discussed. PMID:25759622

  17. Breast Cancer Metastasis

    Science.gov (United States)

    Marino, Natascia; Woditschka, Stephan; Reed, L. Tiffany; Nakayama, Joji; Mayer, Musa; Wetzel, Maria; Steeg, Patricia S.

    2014-01-01

    Despite important progress in adjuvant and neoadjuvant therapies, metastatic disease often develops in breast cancer patients and remains the leading cause of their deaths. For patients with established metastatic disease, therapy is palliative, with few breaks and with mounting adverse effects. Many have hypothesized that a personalized or precision approach (the terms are used interchangeably) to cancer therapy, in which treatment is based on the individual characteristics of each patient, will provide better outcomes. Here, we discuss the molecular basis of breast cancer metastasis and the challenges in personalization of treatment. The instability of metastatic tumors remains a leading obstacle to personalization, because information from a patient’s primary tumor may not accurately reflect the metastasis, and one metastasis may vary from another. Furthermore, the variable presence of tumor subpopulations, such as stem cells and dormant cells, may increase the complexity of the targeted treatments needed. Although molecular signatures and circulating biomarkers have been identified in breast cancer, there is lack of validated predictive molecular markers to optimize treatment choices for either prevention or treatment of metastatic disease. Finally, to maximize the information that can be obtained, increased attention to clinical trial design in the metastasis preventive setting is needed. PMID:23895915

  18. Family physicians' intention to support women in making informed decisions about breast cancer screening with mammography: a cross-sectional survey.

    Science.gov (United States)

    Kiyang, Lawrence-Ndoh; Labrecque, Michel; Doualla-Bell, Florence; Turcotte, Stéphane; Farley, Céline; Cionti Bas, Myrtha; Blais, Johanne; Légaré, France

    2015-11-10

    The net benefits of routine breast cancer screening with mammography have been questioned, and there is evidence to indicate that supporting women to make an informed decision about breast cancer screening with mammography is preferable. The aims of this study were to assess the intention of family physicians to provide women with this support and the determinants of this intention, and to identify factors that might influence family physicians adopting this behavior. Family physicians from the province of Quebec, Canada, attending a 45-min lecture on informed decision making and cancer screening were asked to complete a questionnaire after the lecture regarding their intention to adopt the behavior. The questions, based on the Theory of Planned Behavior, measured physicians' intention and its determinants (attitude, perceived behavioral control, and socio-professional norm) regarding supporting women to make informed decisions about breast cancer screening with mammography. Open-ended questions were also used to explore complementary factors influencing their intention. Out of 800 questionnaires distributed, 301 (38 %) were returned and 288 were included in data analysis. The mean ± standard deviation and median score for intention were respectively 1.9 ± 1.2 and 2.0 on a 6-point Likert scale (-3 to +3). Perceived behavioral control was the variable most strongly associated with intention (high versus low score, odds ratio = 15.7, 95 % CI 6.7-36.6), followed by attitude (high versus low score, odds ratio = 7.5, 95 % CI 3.3-16.8), then social norm (high versus low score, odds ratio = 5.8, 95 % CI 2.6-12.9). The most-reported barrier to adopting the behavior was time constraints (41 %) while the most-reported facilitator was availability of relevant decision support tools (29 %). Respondents showed strong intention to support women in informed decision-making about breast cancer screening, the strongest predictor being perceived behavioral control. These results

  19. Molecular imaging of breast cancer

    NARCIS (Netherlands)

    Adams, A.L.L.

    2014-01-01

    Breast cancer is the most common type of cancer in women. Imaging techniques play a pivotal role in breast cancer management, especially in lesion detection, treatment planning and evaluation, and prognostication. These imaging techniques have however limitations such as the use of ionizing

  20. The Nuclear Death Domain Protein p84N5; a Candidate Breast Cancer Susceptibility Gene

    National Research Council Canada - National Science Library

    Godwin, Andrew

    2006-01-01

    ...% of all cases of breast cancer exhibit a familial pattern of incidence. Efforts to identify the genetic basis of familial breast cancer reached fruition some years ago, when the breast-cancer susceptibility genes BRCA1 and BRCA2 were identified...

  1. Inflammatory breast cancer in accessory abdominal breast tissue

    Directory of Open Access Journals (Sweden)

    Randy C. Miles, MD, MPH

    2017-12-01

    Full Text Available Accessory breast tissue results from failure of the embryologic mammary ridge, also known as the milk line, to involute. As a result, ectopic breast tissue can develop anywhere along this ridge, which extends from the axilla—the most common location—to the groin. Primary breast cancer in accessory breast tissue is uncommon but has been reported in multiple prior studies. We present a rare case of inflammatory breast cancer presenting in upper abdominal accessory breast tissue in women with a personal history of ipsilateral breast cancer, and highlight the challenges of both diagnosis and treatment of breast cancer in accessory breast tissue.

  2. Bisphosphonates for breast cancer.

    Science.gov (United States)

    Pavlakis, N; Schmidt, Rl; Stockler, M

    2005-07-20

    Bone is the most common site of metastatic disease associated with breast cancer affecting more than half of women during the course of their disease. Bone metastases are a significant cause of morbidity due to pain, pathological fractures, hypercalcaemia and spinal cord compression, and contribute to mortality. Bisphosphonates, which inhibit osteoclast-mediated bone resorption, are standard care for tumour-associated hypercalcaemia, and have been shown to reduce bone pain, improve quality of life, and to delay skeletal events and reduce their number in patients with multiple myeloma. Several randomized controlled trials have evaluated the role of bisphosphonates in breast cancer. To assess the effect of bisphosphonates on skeletal events, bone pain, quality of life and survival in women with early and advanced breast cancer. Randomized controlled trials were identified using the specialized register maintained by the Cochrane Breast Cancer Group (the search was applied to the databases Medline, Central/CCTR, Embase, CancerLit, and included handsearches from a number of other relevant sources). See: Cochrane Collaboration Collaborative Review Group in Breast Cancer search strategy. Randomized controlled trials evaluating skeletal events in women with metastatic breast cancer and early breast cancer comparing: 1. treatment with a bisphosphonate with the same treatment without a bisphosphonate 2. treatment with one bisphosphonate with treatment with a different bisphosphonate. Studies were selected by two independent reviewers. Studies fulfilling the eligibility criteria were evaluated for quality, particularly concealment of allocation to randomized groups. Data were extracted from the published papers or abstracts independently by the two primary reviewers for each of the specified endpoints (skeletal events, bone pain, quality of life and survival). Data on skeletal events and survival were presented as numbers of events, risk ratios and ratios of event rates

  3. A narrative analysis: a black woman's perceptions of breast cancer risks and early breast cancer detection.

    Science.gov (United States)

    Lawson, E J

    1998-12-01

    The oncology nurse's role in breast cancer management is enhanced by knowledge of the patient's perceptions of risks. This case study elucidates the process by which perceived risks of breast cancer are embedded in sequences of biographic experiences including childhood sexual abuse, childhood injuries, and an abusive marriage. The case study shows that risk perceptions and subsequent delayed breast cancer detection is related to (a) a belief that breast cancer results from "bad luck, or fate"; (b) lack of cancer-related symptoms; (c) belief that a higher power determines ill health; (d) reluctance to turn to others for help while in an abusive marriage; (e) family history of cancer invulnerability since generations of family members died of diabetes, heart disease, and pregnancy-related illnesses; and (f) fear of gynecologic exams resulting from childhood sexual abuse. Furthermore, nonapplicability of traditional breast cancer risk factors such as heredity, age older than 30 years at first full-term pregnancy, early menarche, and late menopause prohibit an accurate assessment of self-risk. This case study suggests that breast cancer risk perception often differs from that of biomedical factors, and that an understanding of risk judgments is essential for appropriate therapeutic responses.

  4. Estrogens and breast cancer

    Directory of Open Access Journals (Sweden)

    HANKINSON SUSAN E

    1997-01-01

    Full Text Available In this review, we summarize the epidemiologic evidence for the associations of oral contraceptives and postmenopausal hormones with risk of breast cancer. We also describe the biologic plausibility of these relationships. Overall, there appears to be little, if any, increase in risk with oral contraceptive use in general, even among users for 10 or more years. However, compared to never users, current oral contraceptive users appear to have a modest elevation in risk that subsides within about 10 years after cessation of use. For postmenopausal hormones, the weight of the evidence suggests little or no increase in risk among users of short duration, or for use in the past. However, current longer term use is associated with an increased risk of breast cancer that increases with duration. This increase in risk is large enough, and well enough supported, to be considered along with the other risks and benefits of postmenopausal hormone therapy.

  5. Unemployment among breast cancer survivors.

    Science.gov (United States)

    Carlsen, Kathrine; Ewertz, Marianne; Dalton, Susanne Oksbjerg; Badsberg, Jens Henrik; Osler, Merete

    2014-05-01

    Though about 20% of working age breast cancer survivors do not return to work after treatment, few studies have addressed risk factors for unemployment. The majority of studies on occupational consequences of breast cancer focus on non-employment, which is a mixture of sickness absence, unemployment, retirement pensions and other reasons for not working. Unemployment in combination with breast cancer may represent a particular challenge for these women. The aim of the present study is therefore to analyze the risk for unemployment in the years following diagnosis and treatment for breast cancer. This study included 14,750 women diagnosed with breast cancer in Denmark 2001-2009 identified through a population-based clinical database and linked with information from Danish administrative population based registers for information on labour market affiliation, socio-demography and co-morbid conditions. Multivariable analyses were performed by Cox's proportional hazard models. Two years after treatment, 81% of patients were still part of the work force, 10% of which were unemployed. Increasing duration of unemployment before breast cancer was associated with an adjusted HR = 4.37 (95% CI: 3.90-4.90) for unemployment after breast cancer. Other risk factors for unemployment included low socioeconomic status and demography, while adjuvant therapy did not increase the risk of unemployment. Duration of unemployment before breast cancer was the most important determinant of unemployment after breast cancer treatment. This allows identification of a particularly vulnerable group of patients in need of rehabilitation.

  6. Proteomic classification of breast cancer.

    LENUS (Irish Health Repository)

    Kamel, Dalia

    2012-11-01

    Being a significant health problem that affects patients in various age groups, breast cancer has been extensively studied to date. Recently, molecular breast cancer classification has advanced significantly with the availability of genomic profiling technologies. Proteomic technologies have also advanced from traditional protein assays including enzyme-linked immunosorbent assay, immunoblotting and immunohistochemistry to more comprehensive approaches including mass spectrometry and reverse phase protein lysate arrays (RPPA). The purpose of this manuscript is to review the current protein markers that influence breast cancer prediction and prognosis and to focus on novel advances in proteomic classification of breast cancer.

  7. Breast cancer screening in women at increased risk according to different family histories: an update of the Modena Study Group experience

    Directory of Open Access Journals (Sweden)

    Cortesi Laura

    2006-08-01

    Full Text Available Abstract Background Breast cancer (BC detection in women with a genetic susceptibility or strong family history is considered mandatory compared with BC screening in the general population. However, screening modalities depend on the level of risk. Here we present an update of our screening programs based on risk classification. Methods We defined different risk categories and surveillance strategies to identify early BC in 1325 healthy women recruited by the Modena Study Group for familial breast and ovarian cancer. Four BC risk categories included BRCA1/2 carriers, increased, intermediate, and slightly increased risk. Women who developed BC from January 1, 1994, through December 31, 2005 (N = 44 were compared with the number of expected cases matched for age and period. BRCA1/2 carriers were identified by mutational analysis. Other risk groups were defined by different levels of family history for breast or ovarian cancer (OC. The standardized incidence ratio (SIR was used to evaluate the observed and expected ratio among groups. All statistical tests were two-sided. Results After a median follow-up of 55 months, there was a statistically significant difference between observed and expected incidence [SIR = 4.9; 95% confidence interval (CI = 1.6 to 7.6; p P P P = 0.0018 was higher than expected, while the difference between observed and expected among women at slightly increased risk was not statistically significant (SIR = 2.4, 95% CI = 0.9 to 8.3; P = .74. Conclusion The rate of cancers detected in women at high risk according to BRCA status or strong family history, as defined according to our operational criteria, was significantly higher than expected in an age-matched general population. However, we failed to identify a greater incidence of BC in the slightly increased risk group. These results support the effectiveness of the proposed program to identify and monitor individuals at high risk, whereas prospective trials are needed for

  8. Differential expression and prognostic implications of the CCN family members WISP-1, WISP-2, and WISP-3 in human breast cancer.

    Science.gov (United States)

    Davies, Simon R; Watkins, Gareth; Mansel, Robert E; Jiang, Wen G

    2007-06-01

    The CCN family has three Wnt-inducted secreted proteins named WISP-1, WISP-2 and WISP-3. These molecules are known to play a diverse role in cells, but their role in cancer cells remains controversial. In this study, we analyzed the expression of the three WISP molecules at the mRNA and protein levels in a cohort of 122 human breast tumors and 32 normal breast tissues, and we correlated these findings with patients' clinical outcomes. WISP-1 transcripts were found in lower levels in node-positive tumors compared with node-negative tumors (P WISP-2, which had greater levels of expression in node-positive tumors (P = .0043); higher levels in both moderate and poor prognostic groups compared with the good prognostic group (both P WISP-3 transcript levels showed no statistically significant differences between groups. WISPs may play important but contrasting roles in breast cancer. WISP-1 seems to act as a tumor suppressor and WISP-2 as a factor that stimulates aggressiveness; WISP-3 has no definable beneficial or detrimental role.

  9. Cancer statistics: Breast cancer in situ.

    Science.gov (United States)

    Ward, Elizabeth M; DeSantis, Carol E; Lin, Chun Chieh; Kramer, Joan L; Jemal, Ahmedin; Kohler, Betsy; Brawley, Otis W; Gansler, Ted

    2015-01-01

    An estimated 60,290 new cases of breast carcinoma in situ are expected to be diagnosed in 2015, and approximately 1 in 33 women is likely to receive an in situ breast cancer diagnosis in her lifetime. Although in situ breast cancers are relatively common, their clinical significance and optimal treatment are topics of uncertainty and concern for both patients and clinicians. In this article, the American Cancer Society provides information about occurrence and treatment patterns for the 2 major subtypes of in situ breast cancer in the United States-ductal carcinoma in situ and lobular carcinoma in situ-using data from the North American Association of Central Cancer Registries and the 13 oldest Surveillance, Epidemiology, and End Results registries. The authors also present an overview of in situ breast cancer detection, treatment, risk factors, and prevention and discuss research needs and initiatives. © 2015 American Cancer Society.

  10. Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

    Directory of Open Access Journals (Sweden)

    Logan C Walker

    2010-02-01

    Full Text Available A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2. Laboratory-based methods that can distinguish between carriers of pathogenic mutations and non-carriers are likely to have utility for the classification of these sequence variants. To identify predictors of pathogenic mutation status in familial breast cancer patients, we explored the use of gene expression arrays to assess the effect of two DNA-damaging agents (irradiation and mitomycin C on cellular response in relation to BRCA1 and BRCA2 mutation status. A range of regimes was used to treat 27 lymphoblastoid cell-lines (LCLs derived from affected women in high-risk breast cancer families (nine BRCA1, nine BRCA2, and nine non-BRCA1/2 or BRCAX individuals and nine LCLs from healthy individuals. Using an RNA-pooling strategy, we found that treating LCLs with 1.2 microM mitomycin C and measuring the gene expression profiles 1 hour post-treatment had the greatest potential to discriminate BRCA1, BRCA2, and BRCAX mutation status. A classifier was built using the expression profile of nine QRT-PCR validated genes that were associated with BRCA1, BRCA2, and BRCAX status in RNA pools. These nine genes could distinguish BRCA1 from BRCA2 carriers with 83% accuracy in individual samples, but three-way analysis for BRCA1, BRCA2, and BRCAX had a maximum of 59% prediction accuracy. Our results suggest that, compared to BRCA1 and BRCA2 mutation carriers, non-BRCA1/2 (BRCAX individuals are genetically heterogeneous. This study also demonstrates the effectiveness of RNA pools to compare the expression profiles of cell-lines from BRCA1, BRCA2, and BRCAX cases after treatment with irradiation and mitomycin C as a method to prioritize treatment regimes for detailed downstream expression analysis.

  11. The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.

    Science.gov (United States)

    Neidhardt, Guido; Becker, Alexandra; Hauke, Jan; Horváth, Judit; Bogdanova Markov, Nadja; Heilmann-Heimbach, Stefanie; Hellebrand, Heide; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Meindl, Alfons; Rhiem, Kerstin; Blümcke, Britta; Wappenschmidt, Barbara; Schmutzler, Rita K; Hahnen, Eric

    2017-03-01

    Whereas RAD51C mutations increase the relative risk for ovarian cancer (OC) to 5.88 (95% confidence interval=2.91-11.88, P=7.65×10), the associated risks for breast cancer (BC) remain largely unknown, as deleterious RAD51C alterations are extremely rare in BC-only families. Here, we report the results of a RAD51C mutational screening in a large series of German familial index patients negative for pathogenic BRCA1/2 mutations and the in-vitro characterization of two novel exonic RAD51C splice-site mutations. A total of 610 index cases derived from BC/OC (n=587) or OC-only families (n=23) were screened for potentially deleterious germline mutations in RAD51C. The frequencies of two splice-site mutations were assessed by single-nucleotide polymorphism genotyping in 1410 additional cases not enriched for OC family history. In three independent families, we identified novel splice-site mutations affecting the last nucleotide of exon 2 (c.404G>C, c.404G>T). Both mutations disrupt proper RAD51C pre-mRNA processing and cause a missense substitution immediately followed by a stop codon (p.Cys135Serfs*2; p.Cys135Leufs*2). Even though both mutations have similar effects on the protein level, they are associated with either BC/OC, OC-only, or BC-only family histories. The rare finding of a clearly truncating RAD51C mutation in an early-onset BC patient with a BC-only family history supports the notion that compromised RAD51C function may result in both BC and OC. Large international collaborative studies are needed to quantify the relative risk of RAD51C alterations for BC and to unravel the genetic modifying factors that determine phenotypic variability with respect to cancer site.

  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. What do Omani Women know about Breast Cancer Symptoms?

    Science.gov (United States)

    Renganathan, Lakshmi; Ramasubramaniam, Shanthi; Al-Touby, Salem; Seshan, Vidya; Al-Balushi, Amal; Al-Amri, Warda; Al-Nasseri, Yusra; Al-Rawahi, Yuthar

    2014-11-01

    Breast cancer is one of the most common cancers and a leading cause of cancer-related mortality in women worldwide. Studies to detect the awareness of breast cancer among Arab women are few and point to a lack of breast cancer knowledge among females. Early detection of breast cancer plays a leading role in reducing mortality rates and improving prognosis. This study aims to assess the knowledge and awareness of breast cancer symptoms among Omani women. A descriptive, cross-sectional survey design was carried out in Muscat, Oman. The study was conducted at three health centers and three shopping malls using convenience sampling. A total of 369 women consented to be part of the study and completed a questionnaire. Responses to the questionnaire were summed to give an overall knowledge score. Descriptive statistics were used to summarize the data, which was also analyzed statistically. Among the total number of women 68 (19%) were calculated to have poor knowledge, 219 (59%) had average knowledge, 77 (21%) had good knowledge, and five (1%) had excellent knowledge on breast cancer. Among the variables, education status (p=0.002, p<0.050), and family history of breast cancer (p =0.000, p<0.010) was significantly related to a higher knowledge level. The study revealed that there was lack of awareness and knowledge on breast cancer symptoms among Omani women. Breast cancer awareness and early detection through regular breast screening is important to reduce the mortality and morbidity of the disease.

  14. Breast cancer statistics and markers

    Directory of Open Access Journals (Sweden)

    Mallika Siva Donepudi

    2014-01-01

    Full Text Available Breast cancer is one of the familiar diseases in women. Incidence and mortality due to cancer, particularly breast cancer has been increasing for last 50 years, even though there is a lacuna in the diagnosis of breast cancer at early stages. According to World Health Organization (WHO 2012 reports, breast cancer is the leading cause of death in women, accounting 23% of all cancer deaths. In Asia, one in every three women faces the risk of breast cancer in their lifetime as per reports of WHO 2012. Here, the review is been focused on different breast cancer markers, that is, tissue markers (hormone receptors, human epidermal growth factor-2, urokinase plasminogen activator, plasminogen activator inhibitor, p53 and cathepsin D, genetic markers (BRAC1 and 2 and gene expression microarray technique, etc., and serum markers (CA 15.3, BR 27.29, MCA, CA 549, carcinoembryonic antigen, oncoproteins, and cytokeratins used in present diagnosis, but none of the mentioned markers can diagnose breast cancer at an early stage. There is a disquieting need for the identification of best diagnosing marker, which can be able to diagnose even in early stage of breast carcinogenesis.

  15. Non-protein bound oestradiol, sex hormone binding globulin, breast cancer and breast cancer risk.

    Science.gov (United States)

    Bruning, P. F.; Bonfrèr, J. M.; Hart, A. A.

    1985-01-01

    It has recently been found by various authors that despite a normal serum concentration of oestradiol (E2), the percentage of non-protein-bound or free E2 is abnormally high in breast cancer patients. Since it is the free E2 which is considered to be biologically active, confirmation of this finding would be most relevant to the pathogenesis of breast cancer. Using Hammond's centrifugal ultrafiltration dialysis method we have measured free E2 in heparinized plasma from 68 premenopausal women (a) at high familial risk of breast cancer (n = 18), (b) with benign breast disease (n = 17), (c) cured of T1N0M0 breast cancer at least 6 months previously (n = 17) and (d) normal controls matched for age, parity and Quetelet index (n = 16). Sex hormone binding globulin (SHBG) was measured as [3H]-dihydrotestosterone binding capacity. Free E2 and SHBG were also measured in the serum of (e) postmenopausal patients having breast cancer (n = 38) and (f) matched control cancer patients (n = 67). We confirmed a very good inverse correlation between log free E2 per cent and log SHBG (P less than 0.0001). The regression lines for groups (a)-(d) were not statistically different. The regression lines for groups (e) and (f) were identical and ran nearly parallel to those for groups (a)-(d) though somewhat lower. This small difference may be ascribed to menopausal status. Therefore, we found no difference in free E2 percentage, calculated free E2 concentration or SHBG between premenopausal women at risk, women with benign breast disease, patients cured for early breast cancer or having breast cancer and matched controls. However, postmenopausal breast cancer patients had a significantly higher total serum E2 concentration and, by consequence a higher calculated free E2 concentration compared to the carefully matched control group. PMID:4038881

  16. Paclitaxel Albumin-Stabilized Nanoparticle Formulation in Treating Older Patients With Locally Advanced or Metastatic Breast Cancer

    Science.gov (United States)

    2017-08-18

    Male Breast Cancer; Recurrent Breast Cancer; Stage IV Breast Cancer; Estrogen Receptor-negative Breast Cancer; Estrogen Receptor-positive Breast Cancer; HER2-negative Breast Cancer; HER2-positive Breast Cancer; Progesterone Receptor-negative Breast Cancer; Progesterone Receptor-positive Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer; Triple-negative Breast Cancer

  17. 3 Key Lifestyle Factors Can Lower Breast Cancer Odds

    Science.gov (United States)

    ... about a one-in-eight chance of developing breast cancer, on average, according to the American Cancer Society. Some of the risk factors for the disease cannot be changed -- such as older age and having a strong family history of breast ...

  18. Iranian women's attitude toward prophylactic mastectomy for breast cancer

    Directory of Open Access Journals (Sweden)

    Keivan Majidzadeh-A

    2016-01-01

    Conclusion: Preventive mastectomy has a higher rate of acceptability among women who have had a family history of breast cancer. Therefore, it may be concluded that raising public awareness about the advantages of prophylactic mastectomy could help better address breast cancer in Iran.

  19. Deciphering the Molecular Mechanisms of Breast Cancer

    Science.gov (United States)

    2005-03-01

    together, these observations led to the hypothesis that BRCA1 mayPhiladelphia, Pennsylvania 19104 2 Department of Medical Oncology function as a...familial breast cancer (Hall BRCA1 ubiquitin E3 ligase activity has identified theet al., 1990; Narod et al., 1991; Miki et al., 1994; Wooster RING

  20. Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting.

    Directory of Open Access Journals (Sweden)

    Juan Manuel Rosa-Rosa

    Full Text Available BACKGROUND: The classical candidate-gene approach has failed to identify novel breast cancer susceptibility genes. Nowadays, massive parallel sequencing technology allows the development of studies unaffordable a few years ago. However, analysis protocols are not yet sufficiently developed to extract all information from the huge amount of data obtained. METHODOLOGY/PRINCIPAL FINDINGS: In this study, we performed high throughput sequencing in two regions located on chromosomes 3 and 6, recently identified by linkage studies by our group as candidate regions for harbouring breast cancer susceptibility genes. In order to enrich for the coding regions of all described genes located in both candidate regions, a hybrid-selection method on tiling microarrays was performed. CONCLUSIONS/SIGNIFICANCE: We developed an analysis pipeline based on SOAP aligner to identify candidate variants with a high real positive confirmation rate (0.89, with which we identified eight variants considered candidates for functional studies. The results suggest that the present strategy might be a valid second step for identifying high penetrance genes.

  1. 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...

  2. Breast cancer risks and risk prediction models.

    Science.gov (United States)

    Engel, Christoph; Fischer, Christine

    2015-02-01

    BRCA1/2 mutation carriers have a considerably increased risk to develop breast and ovarian cancer. The personalized clinical management of carriers and other at-risk individuals depends on precise knowledge of the cancer risks. In this report, we give an overview of the present literature on empirical cancer risks, and we describe risk prediction models that are currently used for individual risk assessment in clinical practice. Cancer risks show large variability between studies. Breast cancer risks are at 40-87% for BRCA1 mutation carriers and 18-88% for BRCA2 mutation carriers. For ovarian cancer, the risk estimates are in the range of 22-65% for BRCA1 and 10-35% for BRCA2. The contralateral breast cancer risk is high (10-year risk after first cancer 27% for BRCA1 and 19% for BRCA2). Risk prediction models have been proposed to provide more individualized risk prediction, using additional knowledge on family history, mode of inheritance of major genes, and other genetic and non-genetic risk factors. User-friendly software tools have been developed that serve as basis for decision-making in family counseling units. In conclusion, further assessment of cancer risks and model validation is needed, ideally based on prospective cohort studies. To obtain such data, clinical management of carriers and other at-risk individuals should always be accompanied by standardized scientific documentation.

  3. Dissimilarity between sporadic, non-BRCA1/2 families and hereditary breast cancer, linked to BRCA genes, in the Tunisian population.

    Science.gov (United States)

    Riahi, Aouatef; Gourabi, Mohamel El; Chabouni-Bouhamed, Habiba

    2016-09-01

    Most breast cancers (90 %) are sporadic. Only 5-10 % of all cancer cases can be attributed to genetic defects. BRCA genes are strongly incriminated in the hereditary predisposition to the disease. The purpose of our study was to provide more efficient approach to identify pathogenic BRCA mutation carriers and to determine subgroups within the non-BRCA tumor class. Different clinicopathological features, reproductive factors, as well as psychosocial ones were compared in women carrying mutations in the BRCA1/BRCA2 genes (12 cases) with non-BRCA1/2 family tumors (36 cases) and age-matched sporadic cases, unselected for family history (44 cases). A BRCA-related class was yielded based on age at diagnosis (age ≤ 35 years; p = 0.1), molecular subtypes(the triple-negative subtype was predominant: 43 % of cases; p = 0.025) and age at menarche (p = 0.04). Furthermore, a "probably sporadic" class was distinguished using hormonal contraceptive use (through 30-40 years of age; p = 0.039), the number of full-term pregnancies (age ≥40 years; p = 0.01), age at menopause(age > 50 years; p = 0.04) and psychosocial factors (age ≥ 40 years; p = 0.01). However, analysis of non-BRCA1/2 family tumors indicated that they constitute a heterogeneous class, showing few perceptible differences with sporadic group, but distinct from BRCA1/2 tumors. In Tunisian population, breast cancer can be classified with a high level of accuracy as sporadic or related to BRCA germline mutations by combining different clinicopathological features and reproductive factors. This can be clinically useful in genetic counseling and decision making for BRCA genetic test.

  4. Evidence against PALB2 involvement in Icelandic breast cancer susceptibility

    Directory of Open Access Journals (Sweden)

    Johannesdottir Gudrun

    2008-07-01

    Full Text Available Abstract Several mutations in the PALB2 gene (partner and localizer of BRCA2 have been associated with an increased risk of breast cancer, including a founder mutation, 1592delT, reported in Finnish breast cancer families. Although most often the risk is moderate, it doesn't exclude families with high-risk mutations to exist and such observations have been reported. To see if high-risk PALB2-mutations may be present in the geographically confined population of Iceland, linkage analysis was done on 111 individuals, thereof 61 breast cancer cases, from 9 high-risk non-BRCA1/BRCA2 breast cancer families, targeting the PALB2 region. Also, screening for the 1592delT founder mutation in the 9 high-risk families and in 638 unselected breast cancer cases was performed. The results indicate no linkage in any of the high-risk families and screening for the 1592delT mutation was negative in all samples. PALB2 appears not to be a significant factor in high-risk breast cancer families in Iceland and the 1592delT mutation is not seen to be associated with breast cancer in Iceland.

  5. Fulvestrant and/or Anastrozole in Treating Postmenopausal Patients With Stage II-III Breast Cancer Undergoing Surgery

    Science.gov (United States)

    2018-01-12

    Estrogen Receptor-positive Breast Cancer; HER2-negative Breast Cancer; Invasive Ductal Breast Carcinoma; Invasive Lobular Breast Carcinoma; Recurrent Breast Cancer; Stage II Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer

  6. Breast cancer screening in Korean woman with dense breast tissue

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Hee Jung [Dept. of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul (Korea, Republic of); Ko, Eun Sook [Dept. of Radiology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul (Korea, Republic of); Yi, Ann [Dept. of Radiology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul (Korea, Republic of)

    2015-11-15

    Asian women, including Korean, have a relatively higher incidence of dense breast tissue, compared with western women. Dense breast tissue has a lower sensitivity for the detection of breast cancer and a higher relative risk for breast cancer, compared with fatty breast tissue. Thus, there were limitations in the mammographic screening for women with dense breast tissue, and many studies for the supplemental screening methods. This review included appropriate screening methods for Korean women with dense breasts. We also reviewed the application and limitation of supplemental screening methods, including breast ultrasound, digital breast tomosynthesis, and breast magnetic resonance imaging; and furthermore investigated the guidelines, as well as the study results.

  7. Hormones, Women and Breast Cancer

    Science.gov (United States)

    ... before age 12) or reached menopause late (after age 55). Breast cancer is more common among women who • Are older • ... 40. If you are at high risk for breast cancer, you should get an annual mammogram beginning at age 40. Talk with your provider about other screening ...

  8. Overdiagnosis in breast cancer screening

    DEFF Research Database (Denmark)

    Lynge, Elsebeth; Beau, Anna-Belle; Christiansen, Peer

    2017-01-01

    Overdiagnosis in breast cancer screening is an important issue. A recent study from Denmark concluded that one in three breast cancers diagnosed in screening areas in women aged 50-69 years were overdiagnosed. The purpose of this short communication was to disentangle the study's methodology...

  9. Danish Breast Cancer Cooperative Group

    DEFF Research Database (Denmark)

    Christiansen, Peer; Ejlertsen, Bent; Jensen, Maj-Britt

    2016-01-01

    AIM OF DATABASE: Danish Breast Cancer Cooperative Group (DBCG), with an associated database, was introduced as a nationwide multidisciplinary group in 1977 with the ultimate aim to improve the prognosis in breast cancer. Since then, the database has registered women diagnosed with primary invasive...

  10. Histopathological Types of Breast Cancer

    African Journals Online (AJOL)

    Morin”. On the average it represents the prevalence of breast cancer in southern part of Nigeria. The mean age of diagnosis of breast cancer in females in our series was 45.7 years. This age compares favourably With the mean age in other parts of Nigeria. In Calabar, South — South. Nigeria the mean age was found to be ...

  11. Do fatty breasts increase or decrease breast cancer risk?

    Science.gov (United States)

    Shepherd, John A; Kerlikowske, Karla

    2012-01-25

    Few studies have investigated the association of non-dense area or fatty breasts in conjunction with breast density and breast cancer risk. Two articles in a recent issue of Breast Cancer Research investigate the role of absolute non-dense breast area measured on mammograms and find conflicting results: one article finds that non-dense breast area has a modest positive association with breast cancer risk, whereas the other finds that non-dense breast area has a strong protective effect to reduce breast cancer risk. Understanding the interplay of body mass index, menopause status, and measurement of non-dense breast area would help to clarify the contribution of non-dense breast area to breast cancer risk.

  12. Contralateral breast cancer risk is influenced by the age at onset in BRCA1-associated breast cancer

    NARCIS (Netherlands)

    Verhoog, L. C.; Brekelmans, C. T.; Seynaeve, C.; Meijers-Heijboer, E. J.; Klijn, J. G.

    2000-01-01

    BRCA1/2 mutation carriers diagnosed with breast cancer have a strongly elevated life-time risk of developing a contralateral tumour. We studied the contralateral breast cancer risk in 164 patients from 83 families with a proven BRCA1 mutation in relation to the age at diagnosis of the first primary

  13. Psycho-oncological support for breast cancer patients: A brief overview of breast cancer services certification schemes and national health policies in Europe

    OpenAIRE

    Neamţiu, L.; Deandrea, S.; Pylkkänen, L.; Freeman, C; López Alcalde, J.; Bramesfeld, A.; Saz-Parkinson, Z.; Ulutürk, A.; Lerda, D.

    2016-01-01

    Psycho-oncology addresses the psychological, social, behavioural, and ethical aspects of cancer. Identification and proper management of the patients' psychosocial needs, as well as the needs of their caregivers and family are essential for a person-centred concept of breast cancer care. The aim of this overview is to describe how psychosocial support in breast cancer is incorporated in cancer-related policy documents, such as national cancer plans and breast cancer care certifica...

  14. Decline in breast cancer mortality

    DEFF Research Database (Denmark)

    Njor, Sisse Helle; Schwartz, Walter; Blichert-Toft, Mogens

    2015-01-01

    OBJECTIVES: When estimating the decline in breast cancer mortality attributable to screening, the challenge is to provide valid comparison groups and to distinguish the screening effect from other effects. In Funen, Denmark, multidisciplinary breast cancer management teams started before screening...... was introduced; both activities came later in the rest of Denmark. Because Denmark had national protocols for breast cancer treatment, but hardly any opportunistic screening, Funen formed a "natural experiment", providing valid comparison groups and enabling the separation of the effect of screening from other...... factors. METHODS: Using Poisson regression we compared the observed breast cancer mortality rate in Funen after implementation of screening with the expected rate without screening. The latter was estimated from breast cancer mortality in the rest of Denmark controlled for historical differences between...

  15. Unemployment among breast cancer survivors

    DEFF Research Database (Denmark)

    Carlsen, Kathrine; Ewertz, Marianne; Dalton, Susanne Oksbjerg

    2014-01-01

    AIM: Though about 20% of working age breast cancer survivors do not return to work after treatment, few studies have addressed risk factors for unemployment. The majority of studies on occupational consequences of breast cancer focus on non-employment, which is a mixture of sickness absence......, unemployment, retirement pensions and other reasons for not working. Unemployment in combination with breast cancer may represent a particular challenge for these women. The aim of the present study is therefore to analyze the risk for unemployment in the years following diagnosis and treatment for breast...... cancer. METHOD: This study included 14,750 women diagnosed with breast cancer in Denmark 2001-2009 identified through a population-based clinical database and linked with information from Danish administrative population based registers for information on labour market affiliation, socio...

  16. Statins and breast cancer prognosis

    DEFF Research Database (Denmark)

    Ahern, Thomas P; Lash, Timothy L; Damkier, Per

    2014-01-01

    Much preclinical and epidemiological evidence supports the anticancer effects of statins. Epidemiological evidence does not suggest an association between statin use and reduced incidence of breast cancer, but does support a protective effect of statins-especially simvastatin-on breast cancer...... recurrence. Here, we argue that the existing evidence base is sufficient to justify a clinical trial of breast cancer adjuvant therapy with statins and we advocate for such a trial to be initiated without delay. If a protective effect of statins on breast cancer recurrence is supported by trial evidence......, then the indications for a safe, well tolerated, and inexpensive treatment can be expanded to improve outcomes for breast cancer survivors. We discuss several trial design opportunities-including candidate predictive biomarkers of statin safety and efficacy-and off er solutions to the key challenges involved...

  17. Green Tea and Breast Cancer

    Science.gov (United States)

    Wu, Anna H; Butler, Lesley M

    2014-01-01

    The identification of modifiable lifestyle factors that could reduce the risk of breast cancer is a research priority. Despite the enormous chemo preventive potential of green tea and compelling evidence from animal studies, its role in breast cancer development in humans is still unclear. Part of the uncertainty is related to the relatively small number of epidemiological studies on green tea and breast cancer and that the overall results from case-control studies and prospective cohort studies are discordant. In addition, the mechanisms by which green tea intake may influence risk of breast cancer in humans remains not well studied. We review the human studies that have evaluated the relationship between green tea intake and four biomarkers (sex steroid hormones, mammographic density, insulin-like growth factor, adiponectin) that are believed to be important in breast cancer development. Results from these biomarker studies are also inconclusive. Limitations of human studies and areas of further investigations are discussed. PMID:21538855

  18. Vitamin D and breast cancer: Indian perspective

    Directory of Open Access Journals (Sweden)

    Afrozul Haq

    2017-04-01

    Full Text Available Cancer is a major public health problem and cause of death worldwide. According to WHO, cancer accounted for 7.6 million deaths in 2008, which is projected to continue rising with an estimated 13.1 million deaths in 2030. Breast Cancer (BC is the most common cancer in women worldwide and it represents the second leading cause of death among women, after lung cancer. In India, BC is the most common diagnosed malignancy with 75,000 new cases of breast cancer diagnosed every year. The factors associated with BC are genetic mutation, reproductive factors, family history, breast density, increasing age and nutritional risk factors. Retrospective and prospective epidemiologic studies have revealed that vitamin D deficiency is associated with an increased risk of developing and dying of BC. Several recent reports have found vitamin D intake is beneficial not only for cancer prevention but also for women recently diagnosed with BC. In India, vitamin D deficiency ranges between 70% and 100%. There is paucity of literature available on association of vitamin D and risk of BC in Indian women. The aim of this review is to present the association of vitamin D deficiency with BC. Given the high prevalence of vitamin D deficiency and a higher incidence of breast cancer in India, interventional possibilities to increase vitamin D status should be done. Revising the Recommended Dietary Allowances (RDA for vitamin D intake and defining serum 25(OHD cut off levels for the Asian population should be done with a high priority.

  19. The Heritability of Breast Cancer among women in the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Möller, Sören; Mucci, Lorelei A; Harris, Jennifer R

    2016-01-01

    Background Family history is an established risk factor for breast cancer. Although some important genetic factors have been identified, the extent to which familial risk can be attributed to genetic factors versus common environment remains unclear. Methods We estimated the familial concordance...... and heritability of breast cancer among 21,054 monozygotic and 30,939 dizygotic female twin pairs from the Nordic Twin Study of Cancer, the largest twin study of cancer in the world. We accounted for left-censoring, right-censoring, as well as the competing risk of death. Results From 1943 through 2010, 3......,933 twins were diagnosed with breast cancer. The cumulative lifetime incidence of breast cancer taking competing risk of death into account was 8.1% for both zygosities, while the cumulative risk for twins whose co-twins had breast cancer was 28% among monozygotic and 20% among dizygotic twins...

  20. Pregnancy associated breast cancer and pregnancy after breast cancer treatment

    OpenAIRE

    Doğer, Emek; Çalışkan, Eray; Mallmann, Peter

    2011-01-01

    Breast cancer is one of the most common cancers diagnosed during pregnancy and its frequency is increasing as more women postpone their pregnancies to their thirties and forties. Breast cancer diagnosis during pregnancy and lactation is difficult and complex both for the patient and doctors. Delay in diagnosis is frequent and treatment modalities are difficult to accept for the pregnant women. The common treatment approach is surgery after diagnosis, chemotherapy after the first trimester and...

  1. Genetic risk of breast cancer.

    Science.gov (United States)

    Nasir, A; Shackelford, R E; Anwar, F; Yeatman, T J

    2009-12-01

    Several cutting-edge strategies are being used to evaluate candidate genetic risk factors for breast cancer. These include linkage analysis for mapping out BRCA1 and BRCA2, mutational screening of candidate risk genes like CHEK2, ATM, BRIP1 and PALB2, which are associated with an intermediate level of breast cancer risk. Genome-wide association studies have revealed several low-penetrance breast cancer risk alleles. The predisposition factors are associated with different levels of breast cancer risk. Relative to control population, the risk in patients harboring high-risk BRCA1 and 2 mutations is over 10-fold, with intermediate penetrance genes 2 to 4-fold and with low penetrance alleles less than 1.5-fold. Overall, these factors account for about 25% of the genetic risk for breast cancer. In the remainder, genetic factors to contribute to the risk of breast cancer remain unknown and are a subject of current investigation. With discovery and validation of newer and clinically relevant predisposition factors, additional breast cancer risk categories may be recognized. BRCA1 and BRCA2 mutation testing allows identification of individuals at increased risk of breast cancer who are offered risk-reducing interventions. Targeted therapies are being developed that may refine management of patients with BRCA1 and BRCA2 mutations. Further genome-wide studies are required to identify clinically relevant molecular factors that will allow more accurate and widely applicable genetic risk stratification. Current efforts in discovery, validation and qualification of molecular markers of breast cancer risk offer considerable promise in the future to develop more accurate breast cancer risk assessment along with development of more effective chemopreventive and therapeutic strategies.

  2. 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.

    2016-01-01

    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

  3. 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.

  4. Aquaporins in human breast cancer: identification and involvement in carcinogenesis of breast cancer.

    Science.gov (United States)

    Shi, Zhonghua; Zhang, Ting; Luo, Liang; Zhao, Hua; Cheng, Jing; Xiang, Jingying; Zhao, Chun

    2012-09-01

    Aquaporins (AQPs) play important roles in water and glycerol transport. Recently, the role of AQPs in human carcinogenesis has become an area of great interest. However, little is known about the function of AQPs in human breast cancer. The aim of this study was to investigate the expression profile of AQPs in human breast cancer and its significance. In this study, we screened the expression profile of AQP0-12 in breast cancer tissues and corresponding normal tissues by RT-PCR, Western blotting and immunohistochemistry. AQP1, 3-5, and 10-12 were expressed in human breast cancer and/or normal breast tissues, and AQP1 and 3-5 exhibited differential expression. AQP1 was expressed in cell membranes and its expression was higher in cancer than that in normal tissues. AQP4 was expressed in the cell membrane and cytoplasm and was detected markedly stronger in normal than in cancer tissues. AQP5 was expressed mainly in cell membranes in carcinoma tissues, but was almost absent in normal breast tissues. Expression of AQP5 was associated with cellular differentiation, lymph node invasion, and clinicopathological staging. These observations suggested that several subtypes of the AQP family play a role in human breast carcinogenesis. Copyright © 2011 Wiley Periodicals, Inc.

  5. Functional Magnetic Resonance Imaging in Assessing Affect Reactivity and Regulation in Patients With Stage 0-III Breast Cancer

    Science.gov (United States)

    2017-02-27

    Healthy Subject; Stage 0 Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer

  6. Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

    Science.gov (United States)

    de Juan Jiménez, Inmaculada; García Casado, Zaida; Palanca Suela, Sarai; Esteban Cardeñosa, Eva; López Guerrero, José Antonio; Segura Huerta, Ángel; Chirivella González, Isabel; Sánchez Heras, Ana Beatriz; Juan Fita, Ma José; Tena García, Isabel; Guillen Ponce, Carmen; Martínez de Dueñas, Eduardo; Romero Noguera, Ignacio; Salas Trejo, Dolores; Goicoechea Sáez, Mercedes; Bolufer Gilabert, Pascual

    2013-12-01

    During the first 6 years of the Program of Genetic Counselling in Cancer of Valencia (eastern Spain), 310 mutations (155 in BRCA1 and 155 in BRCA2) in 1,763 hereditary breast (BC) and ovarian cancer (OC) families were identified. Of the mutations found 105 were distinct (53 in BRCA1 and 52 in BRCA2), eight new and 37 recurrent. Two of the novel mutations were frame-shift placed in exons 2 and 11 of BRCA1 and the remaining six were placed in BRCA2; four frame-shift (three in exon 11 and one in exon 23), one deletion of the entire exon 19 and one in the intervening sequence of exon 22. The BRCA1 mutations with higher recurrence were c.66_68delAG, c.5123C > A, c.1961delA, c.3770_3771delAG and c.5152+5G > A that covered 45.2% of mutations of this gene. The age of onset of BCs of c.68_69delAG mutation carriers occurs later than for the other recurrent mutations of this gene (45 vs. 37 years; p = 0.008). The BRCA2 mutations with higher recurrence were c.9026_9030delATCAT, c.3264insT and c.8978_8991del14 which represented 43.2% of all mutations in this gene, being the most recurrent mutation by far c.9026_9030delATCAT that represents 21.3% of BRCA2 mutations and 10.6% of all mutations. Probands with family histories of BC and OC, or OC and/or BC in at least two first degree relatives, were the more likely to have BRCA1/BRCA2 mutations (35.2% of the total mutations). And that most BRCA1mutations (73.19% mutations) occurred in probands with early-onset BC or with family history of OC.

  7. Breast Tissue Composition and Susceptibility to Breast Cancer

    Science.gov (United States)

    Martin, Lisa J.; Bronskill, Michael; Yaffe, Martin J.; Duric, Neb; Minkin, Salomon

    2010-01-01

    Breast density, as assessed by mammography, reflects breast tissue composition. Breast epithelium and stroma attenuate x-rays more than fat and thus appear light on mammograms while fat appears dark. In this review, we provide an overview of selected areas of current knowledge about the relationship between breast density and susceptibility to breast cancer. We review the evidence that breast density is a risk factor for breast cancer, the histological and other risk factors that are associated with variations in breast density, and the biological plausibility of the associations with risk of breast cancer. We also discuss the potential for improved risk prediction that might be achieved by using alternative breast imaging methods, such as magnetic resonance or ultrasound. After adjustment for other risk factors, breast density is consistently associated with breast cancer risk, more strongly than most other risk factors for this disease, and extensive breast density may account for a substantial fraction of breast cancer. Breast density is associated with risk of all of the proliferative lesions that are thought to be precursors of breast cancer. Studies of twins have shown that breast density is a highly heritable quantitative trait. Associations between breast density and variations in breast histology, risk of proliferative breast lesions, and risk of breast cancer may be the result of exposures of breast tissue to both mitogens and mutagens. Characterization of breast density by mammography has several limitations, and the uses of breast density in risk prediction and breast cancer prevention may be improved by other methods of imaging, such as magnetic resonance or ultrasound tomography. PMID:20616353

  8. Exercise in Targeting Metabolic Dysregulation in Stage I-III Breast or Prostate Cancer Survivors

    Science.gov (United States)

    2017-09-12

    Cancer Survivor; No Evidence of Disease; Obesity; Overweight; Prostate Carcinoma; Sedentary Lifestyle; Stage I Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage II Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer; Stage III Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer

  9. Exercise Intervention in Targeting Adiposity and Inflammation With Movement to Improve Prognosis in Breast Cancer

    Science.gov (United States)

    2017-12-18

    Cancer Survivor; Central Obesity; Estrogen Receptor Positive; Postmenopausal; Progesterone Receptor Positive; Stage I Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage II Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer; Stage III Breast Cancer; Stage IIIA Breast Cancer; Stage IIIB Breast Cancer; Stage IIIC Breast Cancer

  10. Biomarkers in Tissue Samples From Patients With Newly Diagnosed Breast Cancer Treated With Zoledronic Acid

    Science.gov (United States)

    2017-06-07

    Estrogen Receptor-positive Breast Cancer; Invasive Ductal Breast Carcinoma; Progesterone Receptor-positive Breast Cancer; Stage IA Breast Cancer; Stage IB Breast Cancer; Stage IIA Breast Cancer; Stage IIB Breast Cancer

  11. Melatonin: an Inhibitor of Breast Cancer

    Science.gov (United States)

    Hill, Steven M.; Belancio, Victoria P.; Dauchy, Robert T.; Xiang, Shulin; Brimer, Samantha; Mao, Lulu; Hauch, Adam; Lundberg, Peter W.; Summers, Whitney; Yuan, Lin; Frasch, Tripp; Blask, David E.

    2015-01-01

    This review discusses recent work on melatonin-mediated circadian regulation and metabolic and molecular signaling mechanisms involved in human breast cancer growth and associated consequences of circadian disruption by exposure to light at night (LEN). The anti-cancer actions of the circadian melatonin signal in human breast cancer cell lines and xenografts heavily involve MT1 receptor-mediated mechanisms. In estrogen receptor alpha (ERα)-positive human breast cancer, melatonin, via the MT1 receptor, suppresses ERα mRNA expression and ERα transcriptional activity. As well, melatonin regulates the transactivation of other members of the nuclear receptor super-family, estrogen metabolizing enzymes, and the expression of core clock and clock-related genes. Furthermore, melatonin also suppresses tumor aerobic metabolism (Warburg effect), and, subsequently, cell-signaling pathways critical to cell proliferation, cell survival, metastasis, and drug resistance. Melatonin demonstrates both cytostatic and cytotoxic activity in breast cancer cells that appears to be cell type specific. Melatonin also possesses anti-invasive/anti-metastatic actions that involve multiple pathways including inhibition of p38 MAPK and repression of epithelial-to-mesenchymal transition. Studies demonstrate that melatonin promotes genomic stability by inhibiting the expression of LINE-1 retrotransposons. Finally, research in animal and human models indicate that LEN induced disruption of the circadian nocturnal melatonin signal promotes the growth, metabolism, and signaling of human breast cancer to drive breast tumors to endocrine and chemotherapeutic resistance. These data provide the strongest understanding and support of the mechanisms underpinning the epidemiologic demonstration of elevated breast cancer risk in night shift workers and other individuals increasingly exposed to LEN. PMID:25876649