BRCA Test Negative? Your Patient Is Still High Risk

Although the discovery of BRCA mutations allows us to identify women at elevated risk for breast and ovarian cancers, these mutations by no means account for all inherited malignancies of these organs. To address the hypothesis that other susceptibility genes are involved in inherited cases of breast cancer, British investigators studied 277 families with histories of breast or ovarian cancer and assessed the relative risk for breast cancer among family members who tested negative for BRCA1 or BRCA2.

Of 560 first-degree relatives of individuals carrying one or both of the familial BRCA mutations, 184 (33%) tested negative for these mutations. Of these 184 women, 18 had been diagnosed with breast cancer. During prospective follow-up of 153 fi…