A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.

ABSTRACT: The genetics of pancreatic ductal adenocarcinoma (PDAC) is complex with patients reported to harbor germline pathogenic variants (PVs) in many different genes. PDAC patients with familial pancreatic cancer (FPC) are more likely to carry germline PVs but there is no consensus main gene involved in FPC. We performed a systematic review of publications from PubMed and Scopus reporting PVs in patients with FPC, sporadic pancreatic cancer (SPC) and unselected cohorts of PDAC patients undergoing genetic testing and calculated a cumulative prevalence of PVs for each gene evaluated across these three groups of patients. When available, variants in the selected publications were reclassified according to the American College of Medical Genetics and Genomics classification system and used for preval

SUBMITTER: Astiazaran-Symonds E 

PROVIDER: S-EPMC8475496 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature