Journal of the National Cancer Institute Advance Access published online on November 27, 2007
JNCI Journal of the National Cancer Institute, doi:10.1093/jnci/djm203
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© The Author 2007. Published by Oxford University Press.
BRIEF COMMUNICATION |
Breast Cancer Risk Among Male BRCA1 and BRCA2 Mutation Carriers
Affiliations of authors: Institute for Human Genetics, University of California, San Francisco, CA (YCT); Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA (SD); Departments of Oncology (GP, SC) and Pathology (GP), Johns Hopkins School of Medicine, Baltimore, MD; Departments of Biostatistics (GP, SC) and Environmental Health Sciences (SC), Johns Hopkins Bloomberg School of Public Health, Baltimore, MD
Correspondence to: Sining Chen, PhD, 615 North Wolfe Street, Rm W7041, Baltimore, MD 21205 (e-mail: sichen{at}jhsph.edu).
Men who carry germline mutations in the BRCA2 gene have a higher risk of developing breast carcinoma than men in the general population. Men who carry germline mutations in the BRCA1 gene may also be at a higher risk for breast carcinoma, but this association is not as well established. We evaluated the risks of developing breast carcinoma for male BRCA1 and BRCA2 mutation carriers in the US population based on data from 1939 families with 97 male subjects with breast carcinoma that were collected from eight centers across the National Cancer Institute's Cancer Genetics Network. At all ages, the cumulative risks of male breast cancer were higher in both BRCA1 and BRCA2 mutation carriers than in noncarriers. The relative risks of developing breast cancer were highest for men in their 30s and 40s and decreased with increasing age. Both the relative and cumulative risks were higher for BRCA2 mutation carriers than for BRCA1 mutation carriers. The estimated cumulative risk of breast carcinoma for male BRCA1 mutation carriers at age 70 years was 1.2% (95% confidence interval [CI] = 0.22% to 2.8%) and for BRCA2 mutation carriers, 6.8% (95% CI = 3.2% to 12%).
| CONTEXT AND CAVEATS Prior knowledge Men who carry germline mutations in the BRCA2 gene have a higher risk of developing breast carcinoma than men in the general population. However, the association between germline mutations in the BRCA1 gene and the risk of breast carcinoma in men is not as well established. Study design A retrospective study of the risk of developing breast carcinoma for male BRCA1 and BRCA2 mutation carriers in the United States based on data from 1939 families with 97 men with breast carcinoma that were collected from eight centers across the National Cancer Institute's Cancer Genetics Network. Contribution At all ages, the cumulative risks of male breast cancer were higher in both BRCA1 and BRCA2 mutation carriers than in noncarriers. The relative risks of developing breast cancer were highest for men in their 30s and 40s and decreased with increasing age. Both the relative and cumulative risks were higher for BRCA2 mutation carriers than for BRCA1 mutation carriers. Implications These risk estimates are important for determining appropriate risk management strategies for the male members of families with germline mutations in BRCA1 or BRCA2. Limitations No information about family members' ethnicity group other than their Ashkenazi Jewish ancestry was available, precluding estimates of the penetrance of mutations in BRCA1 and BRCA2 for African Americans.
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Manuscript received February 21, 2007; revised September 24, 2007; accepted September 25, 2007.
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J Natl Cancer Inst 2007 99: 1737.
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