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Prevalence and Predictors of BRCA1 and BRCA2 Mutations in a Population-Based Study of Breast Cancer in White and Black American Women Ages 35 to 64 Years

Divisions of ¹ Public Health Sciences and ² Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center; ³ Department of Genome Sciences, University of Washington, Seattle, Washington; ⁴ Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California; ⁵ National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia; ⁶ Division of Hematology and Oncology, Karmanos Cancer Institute at Wayne State University, Detroit, Michigan; ⁷ Center for Clinical Epidemiology and Biostatistics and Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania; ⁸ Department of Obstetrics and Gynecology, Bay State Medical Center, Springfield, Massachusetts; ⁹ Department of Nutrition, University of Oslo, Norway; ¹⁰ Cancer Centers Branch, National Cancer Institute; ¹¹ Contraception and Reproductive Branch, Center for Population Research, National Institute of Child Health and Human Development, NIH, DHHS; and ¹² National Human Genome Research Institute/NIH, Bethesda, Maryland

Requests for reprints: Kathleen E. Malone, Program in Epidemiology, Fred Hutchinson Cancer Research Center, P.O. Box 19024, Mailstop M4-C308, Seattle, WA 98109. Phone: 206-667-4630; Fax: 206-667-5948; E-mail: kmalone{at}fhcrc.org.

Although well studied in families at high-risk, the roles of mutations in the BRCA1 and BRCA2 genes are poorly understood in breast cancers in the general population, particularly in Black women and in age groups outside of the very young. We examined the prevalence and predictors of BRCA1 and BRCA2 mutations in 1,628 women with breast cancer and 674 women without breast cancer who participated in a multicenter population-based case-control study of Black and White women, 35 to 64 years of age. Among cases, 2.4% and 2.3% carried deleterious mutations in BRCA1 and BRCA2, respectively. BRCA1 mutations were significantly more common in White (2.9%) versus Black (1.4%) cases and in Jewish (10.2%) versus non-Jewish (2.0%) cases; BRCA2 mutations were slightly more frequent in Black (2.6%) versus White (2.1%) cases. Numerous familial and demographic factors were significantly associated with BRCA1 and, to a lesser extent, BRCA2 carrier status, when examined individually. In models considering all predictors together, early onset ages in cases and in relatives, family history of ovarian cancer, and Jewish ancestry remained strongly and significantly predictive of BRCA1 carrier status, whereas BRCA2 predictors were fewer and more modest in magnitude. Both the combinations of predictors and effect sizes varied across racial/ethnic and age groups. These results provide first-time prevalence estimates for BRCA1/BRCA2 in breast cancer cases among understudied racial and age groups and show key predictors of mutation carrier status for both White and Black women and women of a wide age spectrum with breast cancer in the general population. (Cancer Res 2006; 66(16): 8297-308)

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