Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups

JAMA. 2007 Dec 26;298(24):2869-76. doi: 10.1001/jama.298.24.2869.


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 (<35 years) African American patients (5/30 patients [16.7%]; 95% CI, 7.1%-34.3%). 185delAG was the most common mutation in Hispanics, found in 5 of 21 carriers (24%).

Conclusions: Among African American, Asian American, and Hispanic patients in the Northern California Breast Cancer Family Registry, the prevalence of BRCA1 mutation carriers was highest in Hispanics and lowest in Asian Americans. The higher carrier prevalence in Hispanics may reflect the presence of unrecognized Jewish ancestry in this population.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Asian / genetics
  • Asian / statistics & numerical data
  • Black or African American / genetics
  • Black or African American / statistics & numerical data
  • Breast Neoplasms / ethnology*
  • Breast Neoplasms / genetics*
  • California / epidemiology
  • DNA Mutational Analysis
  • Female
  • Genes, BRCA1*
  • Genetic Carrier Screening
  • Hispanic or Latino / genetics
  • Hispanic or Latino / statistics & numerical data
  • Humans
  • Jews / genetics
  • Jews / statistics & numerical data
  • Middle Aged
  • Mutation
  • Prevalence
  • Registries