Exome-Wide Association Study of Pancreatic Cancer Risk.

ABSTRACT: We conducted a case-control exome-wide association study to discover germline variants in coding regions that affect risk for pancreatic cancer, combining data from 5 studies. We analyzed exome and genome sequencing data from 437 patients with pancreatic cancer (cases) and 1922 individuals not known to have cancer (controls). In the primary analysis, BRCA2 had the strongest enrichment for rare inactivating variants (17/437 cases vs 3/1922 controls) (P = 3.27x10^-6; exome-wide statistical significance threshold P < 2.5x10^-6). Cases had more rare inactivating variants in DNA repair genes than controls, even after excluding 13 genes known to predispose to pancreatic cancer (adjusted odds ratio, 1.35; P = .045). At the suggestive threshold (P < .001), 6 genes were enriched

SUBMITTER: Grant RC 

PROVIDER: S-EPMC5811358 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature