The 330 patients in the study cohort included 198 women with PVs in BRCA1 and 108 women with PVs in BRCA2; 2 women had PVs in both BRCA1 and BRCA2. Of the remainder, one woman had PVs in PTEN, 16 had a family history of breast cancer but no recognized PVs, and 5 had a family history of PVs in BRCA1/2 but had opted not to have a genetic test themselves. The gene discussed is BRCA1; the disease is breast cancer.