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Prevalence of BRCA1 Mutation Carriers among U.S. Non-Hispanic Whites

¹ Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California; ² Northern California Cancer Center, Union City, California; ³ Dana-Farber Cancer Institute, Boston, Massachusetts; and ⁴ Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York

Alice S. Whittemore, Department of Health Research and Policy, Stanford University School of Medicine, Redwood Building, Room T204, Stanford, CA 94503-5405. Phone: 650-723-5460; Fax: 650-725-6951. E-mail: alicesw{at}stanford.edu

Data from several countries indicate that 1% to 2% of Ashkenazi Jews carry a pathogenic ancestral mutation of the tumor suppressor gene BRCA1. However, the prevalence of BRCA1 mutations among non-Ashkenazi Whites is uncertain. We estimated mutation carrier prevalence in U.S. non-Hispanic Whites, specific for Ashkenazi status, using data from two population-based series of San Francisco Bay Area patients with invasive cancers of the breast or ovary, and data on breast and ovarian cancer risks in Ashkenazi and non-Ashkenazi carriers. Assuming that 90% of the BRCA1 mutations were detected, we estimate a carrier prevalence of 0.24% (95% confidence interval, 0.15-0.39%) in non-Ashkenazi Whites, and 1.2% (95% confidence interval, 0.5-2.6%) in Ashkenazim. When combined with U.S. White census counts, these prevalence estimates suggest that approximately 550,513 U.S. Whites (506,206 non-Ashkenazim and 44,307 Ashkenazim) carry germ line BRCA1 mutations. These estimates may be useful in guiding resource allocation for genetic testing and genetic counseling and in planning preventive interventions.

Key Words: Bayes rule • BRCA1 mutation • breast cancer • ovarian cancer • two-stage sampling

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