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. 2004 Dec;13(12):2078-83.

Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites

Alice S Whittemore  1 , Gail Gong, Esther M John, Valerie McGuire, Frederick P Li, Kimberly L Ostrow, Richard Dicioccio, Anna Felberg, Dee W West
Affiliations
  • PMID: 15598764

Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites

Alice S Whittemore et al. Cancer Epidemiol Biomarkers Prev. 2004 Dec.

Abstract

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.

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