© 1999 by Oxford University Press
Journal of the National Cancer Institute, Vol. 91, No. 11, 943-949,
June 2, 1999
© 1999 Oxford University Press
Prevalence of BRCA1 and BRCA2 Gene Mutations in Patients With Early-Onset Breast Cancer
Affiliations of authors: J. Peto, Section of Epidemiology, Institute of Cancer Research, Surrey, U.K., and London School of Hygiene and Tropical Medicine, London, U.K.; N. Collins, R. Barfoot, S. Seal, W. Warren, N. Rahman, M. R. Stratton, Section of Cancer Genetics, Institute of Cancer Research; D. F. Easton, CRC Genetic Epidemiology Group, Strangeways Laboratories, Cambridge, U.K.; C. Evans, J. Deacon, Section of Epidemiology, Institute of Cancer Research.
Correspondence to: Michael R. Stratton, M.B.B.S., Ph.D., Haddow Laboratories, Institute of Cancer Research, 15 Cotswold Rd., Sutton, Surrey, SM2 5NG, U.K. (e-mail: mikes{at}icr.ac.uk).
BACKGROUND: Mutations in the BRCA1 and BRCA2 genes are found in most families with cases of both breast and ovarian cancer or with many cases of early-onset breast cancer. However, in an outbred population, the prevalence of BRCA1 and BRCA2 mutations in patients with breast cancer who were unselected for a family history of this disease has not been determined. METHODS: Mutations in the BRCA1 and BRCA2 genes were detected in blood samples from two population-based series of young patients with breast cancer from Britain. RESULTS: Mutations were detected in 15 (5.9%) of 254 women diagnosed with breast cancer before age 36 years (nine [3.5%] in BRCA1 and six [2.4%] in BRCA2) and in 15 (4.1%) of 363 women diagnosed from ages 36 through 45 years (seven [1.9%] in BRCA1 and eight [2.2%] in BRCA2). Eleven percent (six of 55) of patients with a first-degree relative who developed ovarian cancer or breast cancer by age 60 years were mutation carriers, compared with 45% (five of 11) of patients with two or more affected first- or second-degree relatives. The standardized incidence ratio for breast cancer in mothers and sisters was 365 (five observed and 1.37 expected) for 30 mutation carriers and 199 (64 observed and 32.13 expected) for 587 noncarriers. If we assume recent penetrance estimates, the respective proportions of BRCA1 and BRCA2 mutation carriers are 3.1% and 3.0%, respectively, of patients with breast cancer who are younger than age 50 years, 0.49% and 0.84% of patients with breast cancer who are age 50 years or older, and 0.11% and 0.12% of women in the general population. CONCLUSIONS: Mutations in the BRCA1 and BRCA2 genes make approximately equal contributions to early-onset breast cancer in Britain and account for a small proportion of the familial risk of breast cancer.
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H. A. Shih, F. J. Couch, K. L. Nathanson, M. A. Blackwood, T. R. Rebbeck, K. A. Armstrong, K. Calzone, J. Stopfer, S. Seal, M. R. Stratton, et al. BRCA1 and BRCA2 Mutation Frequency in Women Evaluated in a Breast Cancer Risk Evaluation Clinic J. Clin. Oncol., February 15, 2002; 20(4): 994 - 999. [Abstract] [Full Text] [PDF]
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M Robson, L Scheuer, K Nafa, N Ellis, and K Offit Unique de novo mutation of BRCA2 in a woman with early onset breast cancer J. Med. Genet., February 1, 2002; 39(2): 126 - 128. [Full Text] [PDF]
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B. D. Jeffy, R. B. Chirnomas, E. J. Chen, J. M. Gudas, and D. F. Romagnolo Activation of the Aromatic Hydrocarbon Receptor Pathway Is Not Sufficient for Transcriptional Repression of BRCA-1: Requirements for Metabolism of Benzo[a]pyrene to 7r,8t-Dihydroxy-9t,10-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene Cancer Res., January 1, 2002; 62(1): 113 - 121. [Abstract] [Full Text] [PDF]
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M.-C. King, S. Wieand, K. Hale, M. Lee, T. Walsh, K. Owens, J. Tait, L. Ford, B. K. Dunn, J. Costantino, et al. 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, November 14, 2001; 286(18): 2251 - 2256. [Abstract] [Full Text] [PDF]
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D. A. Berry Role of Population-Based Studies in Assessing Genetic Cancer Risk J Natl Cancer Inst, August 15, 2001; 93(16): 1188 - 1189. [Full Text] [PDF]
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N. Loman, O. Johannsson, U. Kristoffersson, H. Olsson, and A. Borg Family History of Breast and Ovarian Cancers and BRCA1 and BRCA2 Mutations in a Population-Based Series of Early-Onset Breast Cancer J Natl Cancer Inst, August 15, 2001; 93(16): 1215 - 1223. [Abstract] [Full Text] [PDF]
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J T Bergthorsson, B Ejlertsen, J H Olsen, A Borg, K V Nielsen, R B Barkardottir, S Klausen, H T Mouridsen, K Winther, K Fenger, et al. BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age J. Med. Genet., June 1, 2001; 38(6): 361 - 368. [Abstract] [Full Text]
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K. L. Nathanson and B. L. Weber 'Other' breast cancer susceptibility genes: searching for more holy grail Hum. Mol. Genet., April 1, 2001; 10(7): 715 - 720. [Abstract] [Full Text] [PDF]
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R. Dammann, G. Yang, and G. P. Pfeifer Hypermethylation of the CpG Island of Ras Association Domain Family 1A (RASSF1A), a Putative Tumor Suppressor Gene from the 3p21.3 Locus, Occurs in a Large Percentage of Human Breast Cancers Cancer Res., April 1, 2001; 61(7): 3105 - 3109. [Abstract] [Full Text]
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B. Friedenson, S. Narod, and D. Haber Roads to Breast Cancer N. Engl. J. Med., March 22, 2001; 344(12): 936 - 937. [Full Text] [PDF]
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R. A. Eeles and T. J. Powles Chemoprevention Options for BRCA1 and BRCA2 Mutation Carriers J. Clin. Oncol., November 1, 2000; 18(90001): 93s - 99. [Abstract] [Full Text] [PDF]
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K.-A. Phillips Immunophenotypic and Pathologic Differences Between BRCA1 and BRCA2 Hereditary Breast Cancers J. Clin. Oncol., November 1, 2000; 18(90001): 107s - 112. [Abstract] [Full Text] [PDF]
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M. Robson Are BRCA1- and BRCA2-Associated Breast Cancers Different? Prognosis of BRCA1-Associated Breast Cancer J. Clin. Oncol., November 1, 2000; 18(90001): 113s - 118. [Abstract] [Full Text] [PDF]
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L. C. Verhoog, E. M. J. J. Berns, C. T. M. Brekelmans, C. Seynaeve, E. J. Meijers-Heijboer, and J. G. M. Klijn Prognostic Significance of Germline BRCA2 Mutations in Hereditary Breast Cancer Patients J. Clin. Oncol., November 1, 2000; 18(90001): 119s - 124. [Abstract] [Full Text] [PDF]
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H. A. Shih, K. L. Nathanson, S. Seal, N. Collins, M. R. Stratton, T. R. Rebbeck, and B. L. Weber BRCA1 and BRCA2 Mutations in Breast Cancer Families with Multiple Primary Cancers Clin. Cancer Res., November 1, 2000; 6(11): 4259 - 4264. [Abstract] [Full Text] [PDF]
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A. B. Spurdle, J. L. Hopper, G. S. Dite, X. Chen, J. Cui, M. R. E. McCredie, G. G. Giles, M. C. Southey, D. J. Venter, D. F. Easton, et al. CYP17 Promoter Polymorphism and Breast Cancer in Australian Women Under Age Forty Years J Natl Cancer Inst, October 18, 2000; 92(20): 1674 - 1681. [Abstract] [Full Text] [PDF]
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D. ELLIS, J. GREENMAN, S. HODGSON, S. McCALL, F. LALLOO, J. CAMERON, L. IZATT, G. SCOTT, C. JACOBS, S. WATTS, et al. Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history J. Med. Genet., October 1, 2000; 37(10): 792 - 794. [Full Text]
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K. Syrjakoski, P. Vahteristo, H. Eerola, A. Tamminen, K. Kivinummi, L. Sarantaus, K. Holli, C. Blomqvist, O.-P. Kallioniemi, T. Kainu, et al. Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients J Natl Cancer Inst, September 20, 2000; 92(18): 1529 - 1531. [Full Text] [PDF]
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J. PLASCHKE, T. COMMER, C. JACOBI, H. K SCHACKERT, and J. CHANG-CLAUDE BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease J. Med. Genet., September 1, 2000; 37(9): 17e - 17. [Full Text]
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S. Angèle, I. Treilleux, P. Tanière, G. Martel-Planche, M. Vuillaume, C. Bailly, A. Brémond, R. Montesano, and J. Hall Abnormal Expression of the ATM and TP53 Genes in Sporadic Breast Carcinomas Clin. Cancer Res., September 1, 2000; 6(9): 3536 - 3544. [Abstract] [Full Text]
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J. Cui and J. L. Hopper Why Are the Majority of Hereditary Cases of Early-Onset Breast Cancer Sporadic? A Simulation Study Cancer Epidemiol. Biomarkers Prev., August 1, 2000; 9(8): 805 - 812. [Abstract] [Full Text]
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N. A. Holtzman and T. M. Marteau Will Genetics Revolutionize Medicine? N. Engl. J. Med., July 13, 2000; 343(2): 141 - 144. [Full Text]
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S. R. Lakhani, B. A. Gusterson, J. Jacquemier, J. P. Sloane, T. J. Anderson, M. J. van de Vijver, D. Venter, A. Freeman, A. Antoniou, L. McGuffog, et al. The Pathology of Familial Breast Cancer: Histological Features of Cancers in Families Not Attributable to Mutations in BRCA1 or BRCA2 Clin. Cancer Res., March 1, 2000; 6(3): 782 - 789. [Abstract] [Full Text]
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S. M. Lippman and P. H. Brown Tamoxifen Prevention of Breast Cancer: an Instance of the Fingerpost J Natl Cancer Inst, November 3, 1999; 91(21): 1809 - 1819. [Full Text] [PDF]
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S. Hellman The Key and the Lamppost J. Clin. Oncol., October 1, 1999; 17(10): 3007 - 3008. [Full Text] [PDF]
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J. L. Hopper, M. C. Southey, G. S. Dite, D. J. Jolley, G. G. Giles, M. R. E. McCredie, D. F. Easton, and D. J. Venter 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 Cancer Epidemiol. Biomarkers Prev., September 1, 1999; 8(9): 741 - 747. [Abstract] [Full Text]
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W. Burke, N. Press, and L. Pinsky BRCA1 and BRCA2: a Small Part of the Puzzle J Natl Cancer Inst, June 2, 1999; 91(11): 904 - 905. [Full Text] [PDF]
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