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December 26, 2007

Genetic Testing in Diverse Populations: Are Researchers Doing Enough to Get Out the Correct Message?

Author Affiliations

Author Affiliation: Department of Medicine, University of Chicago, Chicago, Illinois.

JAMA. 2007;298(24):2910-2911. doi:10.1001/jama.298.24.2910

More than 10 years after BRCA1 and BRCA2 were discovered as major breast cancer susceptibility genes, the medical community is just beginning to get a glimpse of how germline mutations in these genes might be distributed among racial/ethnic minority populations in the United States. While a growing body of evidence documents the benefits of preventive measures having minimal risk for women with identifiable BRCA1 and BRCA2 mutations, genetic testing services remain underutilized by minority women. In this issue of JAMA, John and colleagues1 provide information regarding the prevalence of pathogenic BRCA1 mutations in a population-based study among 5 US racial/ethnic groups in Northern California. Prevalence was particularly high among young African Americans, a group that has long been recognized as having a disproportionate burden of aggressive young-onset breast cancer.

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