A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.

ABSTRACT: Pancreatic cancer is a deadly disease that accounts for approximately 5% of cancer deaths worldwide, with a dismal 5-year survival rate of 10%. Known genetic risk factors explain only a modest proportion of the heritable risk of pancreatic cancer. We conducted a whole-exome case-control sequencing study in 1,591 pancreatic cancer cases and 2,134 cancer-free controls of European ancestry. In our gene-based analysis, ATM ranked first, with a genome-wide significant p value of 1 × 10^-8. The odds ratio for protein-truncating variants in ATM was 24, which is substantially higher than prior estimates, although ours includes a broad 95% confidence interval (4.0-1000). SIK3 was the second highest ranking gene (p = 3.84 × 10^-6, false discovery rate or FDR

SUBMITTER: Yu Y 

PROVIDER: S-EPMC8756505 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature