ArticleEuropean urology2019
Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
Article in European urology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Prognostic Role of DNA Damage Response Genes Mutations and their Association With the Sensitivity of Olaparib in Prostate Cancer Patients.Cancer control : journal of the Moffitt Cancer CenterPooled it
- Association analysis of germline variants in GEN1 with a susceptibility to prostate cancer in Polish men.Hereditary cancer in clinical practice · 2026Article
- Integrating Pathogenic Variants, Polygenic Risk Score, and Family History for Prostate Cancer Risk Estimation in Men of African Ancestry.European urology · 2026Article
- Developing a germline prostate cancer risk test incorporating rare and common variants, to inform clinical decisions: a route to precision oncology.Genome medicine · 2026Article
- Prevalence and clinical significance of the rare HOXB13 X285K variant in a French Caribbean prostate cancer cohort.BMC cancer · 2025Article
- Using gene and gene-set association tests to identify lethal prostate cancer genes.Prostate cancer and prostatic diseases · 2025Article
- The Germline and Somatic Origins of Prostate Cancer Heterogeneity.Cancer discovery · 2025Article
- Germline DNA Damage Repair Variants and Prognosis of Patients with High-Risk or Metastatic Prostate Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Upgrading of Grade Group 1 Prostate Cancer at Prostatectomy: Germline Risk Factors in a Prospective Cohort.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2024Article
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- Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.European urology oncology · 2024Article
- Article
- Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.Scientific reports · 2023Article
- Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer.JAMA oncology · 2023Article
- Article
- Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene.British journal of cancer · 2023Article
- CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men.Human molecular genetics · 2023Article
- Inherited risk assessment and its clinical utility for predicting prostate cancer from diagnostic prostate biopsies.Prostate cancer and prostatic diseases · 2022Review
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Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundRare germline mutations in DNA repair genes are associated with prostate cancer (PCa) predisposition and prognosis.
objectiveTo quantify the frequency of germline DNA repair gene mutations in UK PCa cases and controls, in order to more comprehensively evaluate the contribution of individual genes to overall PCa risk and likelihood of aggressive disease. DESIGN, SETTING, AND
participantsWe sequenced 167 DNA repair and eight PCa candidate genes in a UK-based cohort of 1281 young-onset PCa cases (diagnosed at ≤60yr) and 1160 selected controls. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Gene-level SKAT-O and gene-set adaptive combination of p values (ADA) analyses were performed separately for cases versus controls, and aggressive (Gleason score ≥8, n=201) versus nonaggressive (Gleason score ≤7, n=1048) cases. RESULTS AND LIMITATIONS: We identified 233 unique protein truncating variants (PTVs) with minor allele frequency <0.5% in controls in 97 genes. The total proportion of PTV carriers was higher in cases than in controls (15% vs 12%, odds ratio [OR]=1.29, 95% confidence interval [CI] 1.01-1.64, p=0.036). Gene-level analyses selected NBN (p
conclusionsThe union of the gene-level and gene-set-level analyses identified 23 unique DNA repair genes associated with PCa predisposition or risk of aggressive disease. These findings will help facilitate the development of a PCa-specific sequencing panel with both predictive and prognostic potential. PATIENT SUMMARY: This large sequencing study assessed the rate of inherited DNA repair gene mutations between prostate cancer patients and disease-free men. A panel of 23 genes was identified, which may improve risk prediction or treatment pathways in future clinical practice.
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Registered trials
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.