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Prevalence of Pathogenic BRCA1 Mutation Carriers in 5 US Racial/Ethnic Groups

CONTEXT Information on the prevalence of pathogenic BRCA1 mutation carriers in racial/ethnic minority populations is limited. OBJECTIVE To estimate BRCA1 carrier prevalence in Hispanic, African American, and Asian American female breast cancer patients compared with non-Hispanic white patients with...

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Published in:JAMA : the journal of the American Medical Association 2007-12, Vol.298 (24), p.2869-2876
Main Authors: John, Esther M, Miron, Alexander, Gong, Gail, Phipps, Amanda I, Felberg, Anna, Li, Frederick P, West, Dee W, Whittemore, Alice S
Format: Article
Language:English
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Summary:CONTEXT Information on the prevalence of pathogenic BRCA1 mutation carriers in racial/ethnic minority populations is limited. OBJECTIVE To estimate BRCA1 carrier prevalence in Hispanic, African American, and Asian American female breast cancer patients compared with non-Hispanic white patients with and without Ashkenazi Jewish ancestry. DESIGN, SETTING, AND PARTICIPANTS We estimated race/ethnicity-specific prevalence of BRCA1 in a population-based, multiethnic series of female breast cancer patients younger than 65 years at diagnosis who were enrolled at the Northern California site of the Breast Cancer Family Registry during the period 1996-2005. Race/ethnicity and religious ancestry were based on self-report. Weighted estimates of prevalence and 95% confidence intervals (CIs) were based on Horvitz-Thompson estimating equations. MAIN OUTCOME MEASURE Estimates of BRCA1 prevalence. RESULTS Estimates of BRCA1 prevalence were 3.5% (95% CI, 2.1%-5.8%) in Hispanic patients (n = 393), 1.3% (95% CI, 0.6%-2.6%) in African American patients (n = 341), and 0.5% (95% CI, 0.1%-2.0%) in Asian American patients (n = 444), compared with 8.3% (95% CI, 3.1%-20.1%) in Ashkenazi Jewish patients (n = 41) and 2.2% (95% CI, 0.7%-6.9%) in other non-Hispanic white patients (n = 508). Prevalence was particularly high in young (
ISSN:0098-7484
1538-3598
DOI:10.1001/jama.298.24.2869