ArticleBritish journal of cancer2014
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
Article in British journal of cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
82 citing papers in PubMed, 3 syntheses or guidelines pooled it, 151 citations in OpenAlex.
- Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.Prostate cancer and prostatic diseases · 2023Pooled it
- A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.International journal of oncology · 2019Pooled it
- 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
- Biomarker Development Trial of Satraplatin in Patients with Metastatic Castration-Resistant Prostate Cancer.The oncologist · 2023Trial
- β, β-Dimethylacrylshikonin Triggers Caspase-Mediated Cell Apoptosis via Heme Oxygenase-1 Upregulation and ERK/p38 Activation in Prostate Cancer.Journal of cellular and molecular medicine · 2026Article
- Article
- Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.Familial cancer · 2024Article
- Functional variants of the pentraxin 3 gene are associated with the metastasis and progression of prostate cancer.Journal of cellular and molecular medicine · 2024Article
- Genetic and biological drivers of prostate cancer disparities in Black men.Nature reviews. Urology · 2024Review
- The Lancet Commission on prostate cancer: planning for the surge in cases.Lancet (London, England) · 2024Review
- Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.European urology oncology · 2024Article
- Review on the Role of BRCA Mutations in Genomic Screening and Risk Stratification of Prostate Cancer.Current oncology (Toronto, Ont.) · 2024Review
- Molecular Mechanisms of Prostate Cancer Development in the Precision Medicine Era: A Comprehensive Review.Cancers · 2024Review
- Unravelling the molecular basis of PARP inhibitor resistance in prostate cancer with homologous recombination repair deficiency.International review of cell and molecular biology · 2024Review
- Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus onFrontiers in genetics · 2024Article
- Prostate cancer genetic background. The introduction of genetic testing in the determination of high-risk prostate cancer cases and selection of targeted chemotherapy in advanced prostate cancer patients.Central European journal of urology · 2024Review
- Homologous Recombination Repair Testing Patterns and Outcomes in mCRPC by Alteration Status and Race.ClinicoEconomics and outcomes research : CEOR · 2024Article
- Germline DNA Damage Response Gene Mutations in Localized Prostate Cancer.Medicina (Kaunas, Lithuania) · 2023Article
- Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer.JAMA oncology · 2023Article
- Prostate Cancer: Genetics, Epigenetics and the Need for Immunological Biomarkers.International journal of molecular sciences · 2023Review
22 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
18 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundProstate cancer (PrCa) is one of the most common diseases to affect men worldwide and among the leading causes of cancer-related death. The purpose of this study was to use second-generation sequencing technology to assess the frequency of deleterious mutations in 22 tumour suppressor genes in familial PrCa and estimate the relative risk of PrCa if these genes are mutated.
methodsGermline DNA samples from 191 men with 3 or more cases of PrCa in their family were sequenced for 22 tumour suppressor genes using Agilent target enrichment and Illumina technology. Analysis for genetic variation was carried out by using a pipeline consisting of BWA, Genome Analysis Toolkit (GATK) and ANNOVAR. Clinical features were correlated with mutation status using standard statistical tests. Modified segregation analysis was used to determine the relative risk of PrCa conferred by the putative loss-of-function (LoF) mutations identified.
resultsWe discovered 14 putative LoF mutations in 191 samples (7.3%) and these mutations were more frequently associated with nodal involvement, metastasis or T4 tumour stage (P=0.00164). Segregation analysis of probands with European ancestry estimated that LoF mutations in any of the studied genes confer a relative risk of PrCa of 1.94 (95% CI: 1.56-2.42).
conclusionsThese findings show that LoF mutations in DNA repair pathway genes predispose to familial PrCa and advanced disease and therefore warrants further investigation. The clinical utility of these findings will become increasingly important as targeted screening and therapies become more widespread.
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