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- W2765763150 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 –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 UHMK1 , AP1G2 , DNTA , CHST6 , FGFR3 , and EPHA1 ) and 7 genes had associations with pancreatic cancer risk, based on the sequence-kernel association test. We confirmed variants in BRCA2 as the most common high-penetrant genetic factor associated with pancreatic cancer and we also identified candidate pancreatic cancer genes. Large collaborations and novel approaches are needed to overcome the genetic heterogeneity of pancreatic cancer predisposition." @default.
- W2765763150 created "2017-11-10" @default.
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- W2765763150 date "2018-02-01" @default.
- W2765763150 modified "2023-10-10" @default.
- W2765763150 title "Exome-Wide Association Study of Pancreatic Cancer Risk" @default.
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- W2765763150 doi "https://doi.org/10.1053/j.gastro.2017.10.015" @default.
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