Oncology
Session # P3-08-07
Germline mutations in PALB2, BRCA2 and STK11 are well established as increasing risk of both breast and pancreatic cancer. More recently, ATM and BRCA1 mutations have also been associated with risk, but literature is limited. We investigated the prevalence of pathogenic mutations and likely pathogenic variants (“mutations”) in BRCA1/2, PALB2, STK11 and ATM, comparing mutation occurrence in individuals with diagnoses of breast cancer alone to those with both breast and pancreatic cancer primaries. Prevalence of CDKN2A (p16) mutations was also evaluated in the breast–pancreatic cohort because of its contribution to hereditary pancreatic cancer.