Journal article
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study
Q Karlsson, MN Brook, T Dadaev, S Wakerell, EJ Saunders, K Muir, DE Neal, GG Giles, RJ MacInnis, SN Thibodeau, SK McDonnell, L Cannon-Albright, MR Teixeira, P Paulo, M Cardoso, C Huff, D Li, Y Yao, P Scheet, JB Permuth Show all
European Urology Oncology | ELSEVIER | Published : 2021
Abstract
BACKGROUND: Germline ATM mutations are suggested to contribute to predisposition to prostate cancer (PrCa). Previous studies have had inadequate power to estimate variant effect sizes. OBJECTIVE: To precisely estimate the contribution of germline ATM mutations to PrCa risk. DESIGN, SETTING, AND PARTICIPANTS: We analysed next-generation sequencing data from 13 PRACTICAL study groups comprising 5560 cases and 3353 controls of European ancestry. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Variant Call Format files were harmonised, annotated for rare ATM variants, and classified as tier 1 (likely pathogenic) or tier 2 (potentially deleterious). Associations with overall PrCa risk and clinical..
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Awarded by National Cancer Institute
Funding Acknowledgements
This study was supported by The PRACTICAL Consortium. We acknowledge support from Cancer Research UK (C5047/A17528), from National Cancer Institute at the National Institutes of Health (R01 CA196931) the Bob Champion Trust, and the Global Challenges Research Fund (GCRF).