Variation in Breast Cancer Risk Among BRCA1 or 2 Carriers

Although women in carrier families are at higher risk for breast cancer than are those in noncarrier families, other variables play into the penetrance of BRCA-associated disease.

Researchers have speculated that breast cancer risk in families with BRCA1 or 2 mutations (i.e., disease penetrance) varies because of other gene modifiers. To determine the penetrance of BRCA1 or 2 mutations in high-risk families, investigators evaluated more than 2000 women with bilateral or unilateral breast cancer that was diagnosed before age 55 who were enrolled in the case-control Women’s Environmental Cancer and Radiation Epidemiology (WECARE) study (Breast Cancer Res 2004; 6:R199).

Women were genotyped for BRCA1 or 2 mutations, and information about 7156 first-degree relatives was recorded. Among the 1394 women with unilateral breast cancer, 5.2% had BRCA1 or 2 mutations; among the 704 women with bilateral breast cancer, 15.3% had B…

Reviewing Author

Virginia Kaklamani, MD, DSc

Variation in Breast Cancer Risk Among BRCA1 or 2 Carriers

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Reviewing Author