Article
Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.
JCO precision oncology - 1 Nov 2022
Astiazaran-Symonds Esteban, Graham Cole, Kim Jung, Tucker Margaret A, Ingvar Christian, Helgadottir Hildur, Pastorino Lorenza, van Doorn Remco, Sampson Joshua N, Zhu Bin, Bruno William, Queirolo Paola, Fornarini Giuseppe, Sciallero Stefania, Carter Brian, Hicks Belynda, Hutchinson Amy, Jones Kristine, Stewart Douglas R, Chanock Stephen J, Freedman Neal D, Landi Maria Teresa, Höiom Veronica, Puig Susana, Gruis Nelleke, Yang Xiaohong R, Ghiorzo Paola, Goldstein Alisa M
Abstract excerpt
PURPOSE: Pancreatic ductal adenocarcinoma (PDAC) is a component of familial melanoma due to germline pathogenic variants (GPVs) in CDKN2A. However, it is unclear what role this gene or other genes play in its etiology. MATERIALS AND METHODS: We analyzed 189 cancer predisposition genes using parametric rare-variant association (RVA) tests and nonparametric permutation tests to identify gene-level associations in...
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