title: Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites.
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.
authors.affiliation: Department of Health Research and Policy, Stanford University School of Medicine, Redwood Building, Room T204, Stanford, CA 94503-5405, USA. alicesw@stanford.edu
authors.forename: Alice S
authors.initials: AS
authors.lastname: Whittemore
authors.forename: Gail
authors.initials: G
authors.lastname: Gong
authors.forename: Esther M
authors.initials: EM
authors.lastname: John
authors.forename: Valerie
authors.initials: V
authors.lastname: McGuire
authors.forename: Frederick P
authors.initials: FP
authors.lastname: Li
authors.forename: Kimberly L
authors.initials: KL
authors.lastname: Ostrow
authors.forename: Richard
authors.initials: R
authors.lastname: Dicioccio
authors.forename: Anna
authors.initials: A
authors.lastname: Felberg
authors.forename: Dee W
authors.initials: DW
authors.lastname: West
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics; D002140:California / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D005817:Genetic Counseling; D018095:Germ-Line Mutation; D006801:Humans; D007585:Jews; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics; D015995:Prevalence; D040841:Resource Allocation; D018426:SEER Program; D044465:White People