Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases

Jonathan Mitchell (jonathan.mitchell@astrazeneca.com), Niedzica Camacho, Patrick Shea, Konrad H. Stopsack, Vijai Joseph, Oliver S. Burren, Ryan S. Dhindsa, Abhishek Nag, Jacob E. Berchuck, Amanda O’Neill, Ali Abbasi, Anthony W. Zoghbi, Jesus Alegre-Díaz, Pablo Kuri-Morales, Jaime Berumen, Roberto Tapia-Conyer, Jonathan Emberson, Jason M. Torres, Rory Collins, Quanli Wang, David Goldstein, Athena Matakidou, Carolina Haefliger, Lauren Anderson-Dring, Ruth March, Vaidehi Jobanputra, Brian Dougherty, Keren Carss, Slavé Petrovski, Philip W. Kantoff, Kenneth Offit, Lorelei A. Mucci, Mark Pomerantz and Margarete A. Fabre (margarete.fabre@astrazeneca.com)
Additional contact information
Jonathan Mitchell: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Niedzica Camacho: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Patrick Shea: Columbia University
Konrad H. Stopsack: Massachusetts General Hospital and Harvard Medical School
Vijai Joseph: Sloan Kettering Institute
Oliver S. Burren: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Ryan S. Dhindsa: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Abhishek Nag: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Jacob E. Berchuck: Dana-Farber Cancer Institute
Amanda O’Neill: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Ali Abbasi: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Anthony W. Zoghbi: Baylor College of Medicine
Jesus Alegre-Díaz: National Autonomous University of Mexico, Copilco Universidad
Pablo Kuri-Morales: National Autonomous University of Mexico, Copilco Universidad
Jaime Berumen: National Autonomous University of Mexico, Copilco Universidad
Roberto Tapia-Conyer: National Autonomous University of Mexico, Copilco Universidad
Jonathan Emberson: University of Oxford
Jason M. Torres: University of Oxford
Rory Collins: University of Oxford
Quanli Wang: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
David Goldstein: Columbia University
Athena Matakidou: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Carolina Haefliger: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Lauren Anderson-Dring: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Ruth March: AstraZeneca
Vaidehi Jobanputra: Columbia University
Brian Dougherty: AstraZeneca
Keren Carss: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Slavé Petrovski: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca
Philip W. Kantoff: Memorial Sloan Kettering Cancer Center
Kenneth Offit: Sloan Kettering Institute
Lorelei A. Mucci: Harvard T. H. Chan School of Public Health
Mark Pomerantz: Dana-Farber Cancer Institute
Margarete A. Fabre: Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca

Nature Communications, 2025, vol. 16, issue 1, 1-11

Abstract: Abstract To assess the contribution of rare coding germline genetic variants to prostate cancer risk and severity, we perform here a meta-analysis of 37,184 prostate cancer cases and 331,329 male controls from five cohorts with germline whole exome or genome sequencing data, and one cohort with imputed array data. At the gene level, our case-control collapsing analysis confirms associations between rare damaging variants in four genes and increased prostate cancer risk: SAMHD1, BRCA2 and ATM at the study-wide significance level (P

Date: 2025
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DOI: 10.1038/s41467-025-56944-1

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