Journal article

Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study

Questa Karlsson, Mark N Brook, Tokhir Dadaev, Sarah Wakerell, Edward J Saunders, Kenneth Muir, David E Neal, Graham G Giles, Robert J MacInnis, Stephen N Thibodeau, Shannon K McDonnell, Lisa Cannon-Albright, Manuel R Teixeira, Paula Paulo, Marta Cardoso, Chad Huff, Donghui Li, Yu Yao, Paul Scheet, Jennifer B Permuth Show all



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 Cancer Research UK

Awarded by National Cancer Institute at the National Institutes of Health

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).