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Surprising Findings About Race and the BRCA1 Gene Mutation

By Nancy Plese

It doesn’t matter where your grandmother came from. Although it’s relatively rare, no one is safe from the BRCA1 gene. Many people think the BRCA1 genetic mutation—linked to a higher risk of breast and ovarian cancer—is found only in women of Ashkenazi Jewish ancestry, but this is not so.

This new information comes from a study published in the December 26, 2007, Journal of the American Medical Association and offers the following lesson: no woman with breast cancer—and no physician—should make assumptions about whether or not the BRCA1 mutation is involved, regardless of how the woman defines her race or ethnicity or where her ancestors came from.

Some of the surprises in the study:

• The estimated prevalence of the BRCA1 mutation among Hispanic women with breast cancer is second only to that of women of Ashkenazi Jewish ancestry who have the disease (3.5 percent and 8.3 percent, respectively).


• Young African-American women and young Hispanic women had a very high estimated prevalence of BRCA1 (16.7 percent and 8.9 percent in women diagnosed before age 35).


• Asian-Americans had the lowest BRCA1 prevalence both overall (0.5 percent) and in those diagnosed before age 35 (2.4 percent).


• White women (those who were not Hispanic or Ashkenazi Jewish) had a BRCA1 mutation prevalence of 2.2 percent overall and 7.2 percent in those diagnosed before age 35.


• As expected, the highest rates were in women of Ashkenazi Jewish ancestry diagnosed before age 35: 66.7 percent.

The younger the woman was at the time of diagnosis, the more likely it was that she had the BRCA1 mutation.

These findings may help guide “genetic testing, genetic counseling, and planning of preventive interventions in all population subgroups,” wrote Esther M. John, Ph.D., and colleagues in their study. They studied 1,727 women from the San Francisco Bay area who had invasive breast cancer and were younger than 65 years at diagnosis. Ethnicity, race and ancestry were based on what the women told them.

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