A number of recent studies have suggested that a substantial number of individuals with pancreatic cancer have a mutation in an inherited cancer gene. In a study of over 300 patients with pancreatic cancer (and with one or two family members with pancreatic cancer), 12% were found to have a mutation in 1 of 11 genes, most commonly BRCA2 and ATM.1 In a subsequently published study of 274 patients with pancreatic cancer (unselected for family history), almost 9% had a mutation in an inherited cancer gene.2 Through another large study of over 3000 pancreatic cancer patients, mutations in 6 genes associated with pancreatic cancer were found in 5.5% of these patients (including 7.9% and 5.2% of patients with and without a family history of pancreatic cancer).3 Most recently, ~10% of almost 300 unselected pancreatic cancer patients were found to have a mutation in an inherited cancer gene, most of which were genes known to be associated with pancreatic cancer.4 Many of these individuals did not meet current clinical criteria to warrant testing. Taken together, these findings highlight the importance of broadly considering testing for inherited cancer genes among individuals with pancreatic cancer, which is particularly important given the advances in targeted therapeutics.
1Chaffee KG, et al. Genet Med. 2018 Jan. PMID: 28726808.
2Young EL, et al. BMC Cancer. 2018 Jun 27. PMID: 29945567.
3Hu C, et al. JAMA. 2018 Jun 19. PMID:29922827.
4Brand R, et al, Cancer.2018 Aug 1. PMID: 30067863.