Germline Testing for Individuals with Pancreatic Adenocarcinoma and Novel Genetic Risk Factors

Germline genetic variants implicated in increasing lifetime risk of pancreatic cancer (PDAC) have been identified in ∼4% to 10% of cases. Clinical features such as family history have poor sensitivity in identifying carriers of these risk variants. Genetic testing for these germline variants has potential to guide risk assessment and surveillance recommendations in high-risk individuals to promote prevention and early detection measures. Furthermore, identification of novel germline variants can offer important insights into pathogenesis that may inform precision medicine approaches. This article reviews current understanding of germline mutations associated with PDAC risk and implications of genetic testing.