SynthesisNature communications2025
Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.
Abstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed.
- Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.Journal of medical genetics · 2026Article
- Clinical Impact of Germline Pathogenic Variants in High-risk Prostate Cancer Treated with Radiotherapy.European urology open science · 2026Article
- A decision-oriented framework for genomic testing across the prostate cancer continuum.Cancer genetics · 2026Review
- Germline genetic risk and prostate cancer-specific mortality in a population-based incident cohort.Prostate cancer and prostatic diseases · 2026Article
- Diagnosis of Prostate Cancer: A Comparative Evaluation of Biological Techniques.Diseases (Basel, Switzerland) · 2026Review
- Article
- Scalable and accurate rare-variant association tests for whole genome sequencing time-to-event analysis in large biobanks.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.Acta neuropathologica · 2026Article
- Revisiting the impact of BRCA1 pathogenic variants on the aggressiveness of prostate cancer.JNCI cancer spectrum · 2026Article
- Haplotype GWAS in Colorectal Cancer Patients with a Family History of Gastric or Prostate Cancer.International journal of molecular sciences · 2026Article
- Confirmation of BIK and SAMHD1 as Prostate Cancer Susceptibility Genes.The Prostate · 2025Article
- Identifying potential therapeutic targets for prostate cancer with mediating role in tumor immunity.Discover oncology · 2025Article
- Germline Testing for Prostate Cancer Patients: Evidence-Based Evaluation of Genes Recommended by NCCN Guidelines.The Prostate · 2025Article
Corrections and comments
- Update of
Authors and funding
34 authors.
Jonathan Mitchell *Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. jonathan.mitchell@astrazeneca.com.ORCID http://orcid.org/0000-0003-3792-4058
Niedzica Camacho *Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0002-0724-760X
Patrick SheaInstitute for Genomic Medicine, Columbia University, New York, NY, USA.
Konrad H StopsackClinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0722-1311
Vijai JosephCancer Biology and Genetics Program, Sloan Kettering Institute, New York, NY, USA.ORCID http://orcid.org/0000-0002-7933-151X
Oliver S BurrenCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Ryan S DhindsaCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0002-8965-0813
Abhishek NagCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Jacob E BerchuckDana-Farber Cancer Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7607-2428
Amanda O'NeillCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Ali AbbasiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Anthony W ZoghbiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Jesus Alegre-DíazFaculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, Ciudad de México, Mexico.ORCID http://orcid.org/0000-0001-9390-3871
Pablo Kuri-MoralesFaculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, Ciudad de México, Mexico.ORCID http://orcid.org/0000-0002-0704-9507
Jaime BerumenFaculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, Ciudad de México, Mexico.ORCID http://orcid.org/0000-0001-6707-3317
Roberto Tapia-ConyerFaculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, Ciudad de México, Mexico.ORCID http://orcid.org/0000-0003-3814-2904
Jonathan EmbersonClinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-7792-9422
Jason M TorresClinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-7537-7035
Rory CollinsClinical Trial Service Unit & Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Quanli WangCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.
David GoldsteinInstitute for Genomic Medicine, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-1111-2820
Athena MatakidouCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Carolina HaefligerCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0002-5095-5716
Lauren Anderson-DringCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Ruth MarchPrecision Medicine and Biosamples, R&D Oncology, AstraZeneca, Dublin, Ireland.
Vaidehi JobanputraInstitute for Genomic Medicine, Columbia University, New York, NY, USA.
Brian DoughertyOncology R&D, AstraZeneca, Waltham, MA, USA.
Keren CarssCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0003-4939-156X
Slavé PetrovskiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0002-1527-961X
Philip W KantoffDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Kenneth OffitCancer Biology and Genetics Program, Sloan Kettering Institute, New York, NY, USA.
Lorelei A MucciDepartment of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA.
Mark PomerantzDana-Farber Cancer Institute, Boston, MA, USA.
Margarete A FabreCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. margarete.fabre@astrazeneca.com.ORCID http://orcid.org/0000-0001-7794-610X
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MThe Impact of DNA Damage Repair Abnormalities in Prostate CancerP01CA228696 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI KANTOFF, PHILIP W · 2019 to 2024
$8.7MNCI NIH HHS P01 CA228696NCI NIH HHS P30 CA008748Wellcome Trust
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 < 1×10
Indexed as
Genetic Predisposition to DiseaseGerm-Line MutationProstatic NeoplasmsAtaxia Telangiectasia Mutated ProteinsBRCA2 ProteinCase-Control StudiesCheckpoint Kinase 2HumansMaleMiddle AgedRisk FactorsAtaxia Telangiectasia Mutated ProteinsATM protein, humanBRCA2 ProteinBRCA2 protein, humanCheckpoint Kinase 2CHEK2 protein, human
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.