Germline Mutation in ATM, BRCA1, BRCA2, CDKN2A, MLH1 and TP53 are Associated with Pancreatic Cancer


People with gene mutations highly associated with pancreatic cancer risk could benefit from early detection to prevent disease from occurring. However, genetic predisposition to pancreatic cancer is not fully understood yet. Mayo clinic enrolled 3030 cases with pancreatic cancer from 2000 to 2016, sequenced 21 cancer suspected genes, and compared with around 17000 reference controls from gnomAD and ExAC database. From this case-control study, mutations in 6 genes (ATM, BRCA1, BRCA2, CDKN2A, MLH1s, and TP53) were found to be significantly associated with pancreatic cancer. In addition, mutation in those 6 gene were found in 7.9% of patients with a family history of pancreatic cancer and 5.2% of patients with no family history of pancreatic cancer. The findings suggest all people diagnosed with pancreatic cancer should have genetic testing, regardless of family history.

Source : JAMA. 2018;319(23):2401-2409