Although pancreatic cancer is one of the cancer types seen among individuals with mutations in inherited cancer genes (including BRCA2 and BRCA1), the proportion of individuals with pancreatic cancer who have an inherited cause has remained uncertain. To further clarify the role of BRCA1 and BRCA2 (BRCA), over 300 patients with pancreatic cancer were tested for BRCA mutations.1 BRCA mutations were identified in 4.6% of patients, of which almost 80% were in BRCA2 (with the remainder in BRCA1). Many of the patients identified with BRCA mutations did not have a strong family history of breast and/or ovarian cancer. Furthermore, individuals of Ashkenazi Jewish ancestry were more likely to have a BRCA mutation compared to all others.
More recently, another study tested 96 patients with pancreatic cancer for 22 inherited cancer genes, of which 14 mutations were identified in 13 patients (13.5%).2 Nine individuals (9.4%) were identified with mutations in established inherited pancreatic cancer genes of varying risks (i.e., BRCA1, BRCA2, PALB2, MSH6, and ATM). These findings suggest that inherited genes may be a contributing factor in a substantial proportion of individuals with pancreatic cancer. However, more studies are needed to refine the level of pancreatic cancer risk in order to determine who to target for high-risk screening (recognizing that evidence-based screening strategies for the early detection of pancreatic cancer do not currently exist and remain an active area of research). Finally, identification of inherited pancreatic cancer predisposition may contribute to targeted treatment approaches.
1Holter S et al. JCO. 2015 May 4. PMID: 25940717.
2Hu C,et al. CEBP. 2015 Oct 19. PMID: 26483394.