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

We observed nominally significant association signals in several genes of a priori interest, including BRCA2 (p = 4.3 × 10 −4 ), STK11 (p = 0.003), PALB2 (p = 0.019), and TP53 (p = 0.037), and reported risk estimates for known pathogenic variants and variants of uncertain significance (VUS) in these genes.

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