Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
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2000, Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group, Br J Cancer, 83, 1301, 10.1054/bjoc.2000.1407
Antoniou, 2003, Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies, Am J Hum Genet, 72, 1117, 10.1086/375033
Antoniou, 2008, The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions, Br J Cancer, 98, 1457, 10.1038/sj.bjc.6604305
Begg, 2008, Variation of breast cancer risk among BRCA1/2 carriers, JAMA, 299, 194, 10.1001/jama.2007.55-a
Brose, 2002, Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program, J Natl Cancer Inst, 94, 1365, 10.1093/jnci/94.18.1365
Chen, 2006, Characterization of BRCA1 and BRCA2 mutations in a large United States sample, J Clin Oncol, 24, 863, 10.1200/JCO.2005.03.6772
Easton, 1995, Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium, Am J Hum Genet, 56, 265
Easton, 1997, Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13, Am J Hum Genet, 61, 120, 10.1086/513891
Easton, 2004, Breast cancer risks for BRCA1/2 carriers, Science, 306, 2187, 10.1126/science.306.5705.2187c
Evans, 2008, Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family, BMC Cancer, 8, 155, 10.1186/1471-2407-8-155
Fackenthal, 2007, Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations, Nat Rev Cancer, 7, 937, 10.1038/nrc2054
Ford, 1994, Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium, Lancet, 343, 692, 10.1016/S0140-6736(94)91578-4
Ford, 1995, Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence, Am J Hum Genet, 57, 1457
Ford, 1998, Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium, Am J Hum Genet, 62, 676, 10.1086/301749
Gayther, 1997, Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene, Nat Genet, 15, 103, 10.1038/ng0197-103
Gayther, 1999, The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes, Am J Hum Genet, 65, 1021, 10.1086/302583
Gilbert, 2009, Cancers in BRCA1 and BRCA2 carriers and in women at high risk for breast cancer: MR imaging and mammographic features, Radiology, 252, 358, 10.1148/radiol.2522081032
Hopper, 1999, Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study, Cancer Epidemiol Biomarkers Prev, 8, 741
King, 2001, Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial, JAMA, 286, 2251, 10.1001/jama.286.18.2251
Satagopan, 2001, The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations, Cancer Epidemiol Biomarkers Prev, 10, 467
Struewing, 1997, The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews, N Engl J Med, 336, 1401, 10.1056/NEJM199705153362001
Warner, 1999, Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer, J Natl Cancer Inst, 91, 1241, 10.1093/jnci/91.14.1241
Satagopan, 2002, Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations, Clin Cancer Res, 8, 3776
van der Kolk, 2010, Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age, Breast Cancer Res Treat, 124, 643, 10.1007/s10549-010-0805-3
Metcalfe, 2010, Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations, J Natl Cancer Inst, 102, 1874, 10.1093/jnci/djq443
Brekelmans, 2007, Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases, Eur J Cancer, 43, 867, 10.1016/j.ejca.2006.12.009
Graeser, 2009, Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers, J Clin Oncol, 27, 5887, 10.1200/JCO.2008.19.9430
Haffty, 2002, Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status, Lancet, 359, 1471, 10.1016/S0140-6736(02)08434-9
Metcalfe, 2004, Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers, J Clin Oncol, 22, 2328, 10.1200/JCO.2004.04.033
Pierce, 2006, Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer, J Clin Oncol, 24, 2437, 10.1200/JCO.2005.02.7888
Metcalfe, 2011, Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers, Br J Cancer, 104, 1384, 10.1038/bjc.2011.120
Begg, 2002, On the use of familial aggregation in population-based case probands for calculating penetrance, J Natl Cancer Inst, 94, 1221, 10.1093/jnci/94.16.1221
Thompson, 2001, Variation in cancer risks, by mutation position, in BRCA2 mutation carriers, Am J Hum Genet, 68, 410, 10.1086/318181
Thompson, 2002, Variation in BRCA1 cancer risks by mutation position, Cancer Epidemiol Biomarkers Prev, 11, 329
Andrieu, 2006, Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS), J Natl Cancer Inst, 98, 535, 10.1093/jnci/djj132
Cullinane, 2005, Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers, Int J Cancer, 117, 988, 10.1002/ijc.21273
Milne, 2010, Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers, Breast Cancer Res Treat, 119, 221, 10.1007/s10549-009-0394-1
Antoniou, 2007, RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies, Am J Hum Genet, 81, 1186, 10.1086/522611
Antoniou, 2008, Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, Am J Hum Genet, 82, 937, 10.1016/j.ajhg.2008.02.008
Antoniou, 2009, Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers, Hum Mol Genet, 18, 4442, 10.1093/hmg/ddp372
Antoniou, 2010, A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population, Nat Genet, 42, 885, 10.1038/ng.669
Antoniou, 2010, Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction, Cancer Res, 70, 9742, 10.1158/0008-5472.CAN-10-1907
Gaudet, 2010, Common genetic variants and modification of penetrance of BRCA2-associated breast cancer, PLoS Genet, 6, e1001183, 10.1371/journal.pgen.1001183
Antoniou, 2012, Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers, Breast Cancer Res, 14, R33, 10.1186/bcr3121
Wang, 2010, Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers, Hum Mol Genet, 19, 2886, 10.1093/hmg/ddq174
Domchek, 2006, Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study, Lancet Oncol, 7, 223, 10.1016/S1470-2045(06)70585-X
Kramer, 2005, Prophylactic oophorectomy reduces breast cancer penetrance during prospective, long-term follow-up of BRCA1 mutation carriers, J Clin Oncol, 23, 8629, 10.1200/JCO.2005.02.9199
Meijers-Heijboer, 2001, Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation, N Engl J Med, 345, 159, 10.1056/NEJM200107193450301
Moller, 2010, High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series, Hered Cancer Clin Pract, 8, 2, 10.1186/1897-4287-8-2
Rowan, 2007, A prospective study of breast cancer risk in relatives of BRCA1/BRCA2 mutation carriers, J Med Genet, 44, e89
Shah, 2009, Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence, Breast Cancer Res Treat, 118, 539, 10.1007/s10549-009-0475-1
Kaplan, 1958, Nonparametric estimation from incomplete observations, J Amer Statist Assn, 53, 457, 10.1080/01621459.1958.10501452
Malone, 2010, Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2, J Clin Oncol, 28, 2404, 10.1200/JCO.2009.24.2495
McLaughlin, 2007, Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case–control study, Lancet Oncol, 8, 26, 10.1016/S1470-2045(06)70983-4
Kauff, 2008, Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study, J Clin Oncol, 26, 1331, 10.1200/JCO.2007.13.9626
Domchek, 2006, Bilateral risk-reducing oophorectomy in BRCA1 and BRCA2 mutation carriers, J Natl Compr Canc Netw, 4, 177, 10.6004/jnccn.2006.0017
Domchek, 2007, Prophylactic oophorectomy in women at increased cancer risk, Curr Opin Obstet Gynecol, 19, 27, 10.1097/GCO.0b013e32801195da
Domchek, 2010, Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality, JAMA, 304, 967, 10.1001/jama.2010.1237
Eisen, 2005, Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study, J Clin Oncol, 23, 7491, 10.1200/JCO.2004.00.7138
Kauff, 2007, Risk-reducing salpingo-oophorectomy in patients with germline mutations in BRCA1 or BRCA2, J Clin Oncol, 25, 2921, 10.1200/JCO.2007.11.3449
Rebbeck, 1999, Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers, J Natl Cancer Inst, 91, 1475, 10.1093/jnci/91.17.1475
Rebbeck, 2002, Prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers, Eur J Cancer, 38, S15, 10.1016/S0959-8049(02)00269-1
Rebbeck, 2002, Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations, N Engl J Med, 346, 1616, 10.1056/NEJMoa012158
Rebbeck, 2009, Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers, J Natl Cancer Inst, 101, 80, 10.1093/jnci/djn442
Friebel, 2007, Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers, Clin Breast Cancer, 7, 875, 10.3816/CBC.2007.n.053
Moorman, 2010, Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis, Breast Cancer Res Treat, 124, 441, 10.1007/s10549-010-0842-y
Poynter, 2010, Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study, Cancer Causes Control, 21, 839, 10.1007/s10552-010-9510-0
Fisher, 1998, Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study, J Natl Cancer Inst, 90, 1371, 10.1093/jnci/90.18.1371
Fisher, 2001, Tamoxifen and chemotherapy for axillary node-negative, estrogen receptor-negative breast cancer: findings from National Surgical Adjuvant Breast and Bowel Project B-23, J Clin Oncol, 19, 931, 10.1200/JCO.2001.19.4.931
Fisher, 2002, Twenty-five-year follow-up of a randomized trial comparing radical mastectomy, total mastectomy, and total mastectomy followed by irradiation, N Engl J Med, 347, 567, 10.1056/NEJMoa020128
Mavaddat, 2010, Genetic susceptibility to breast cancer, Mol Oncol, 4, 174, 10.1016/j.molonc.2010.04.011