Mutations in genes analyzed with PANEXIA® increase the risk of specific cancers. Studies of unselected BRCA2 mutation carriers have documented up to a 7% risk for pancreatic cancer by age 80152, but this risk may be considerably higher in BRCA2 mutation carriers where a family history of pancreatic cancer is present.153 Women with BRCA2 mutations have a risk of up to 84% for breast cancer and up to 27% for ovarian cancer by age 70.154 Male mutation carriers have up to an 8% risk of male breast cancer192 and up to a 20% risk of prostate cancer by age 80.155 Additionally, cancer survivors have an increased risk of a second primary cancer diagnosis.155,156
Mutations in PALB2 have been identified in families with multiple cases of pancreatic cancer157,158, but the exact risk for pancreatic cancer conferred by PALB2 mutations has not yet been established. The cumulative breast cancer risk among female PALB2 mutations carriers is estimated to be increased by 2-4 fold159,160,161, which translates to an 18-35% risk of breast cancer by age 70 based on general female population risk of 8.8% to age 70.162
Genetic testing identifies patients who have germline mutations in the BRCA2 and PALB2 genes. This information may be useful when developing risk-reducing strategies for these patients.