{"title":"Prevalence of DNA-Repair Gene mutations in Mexican men with prostate cancer","authors":"","doi":"10.1016/j.acuroe.2024.05.009","DOIUrl":null,"url":null,"abstract":"<div><h3>Introduction and objective</h3><div><span>Mexico reported 26,742 new cases of prostate cancer<span><span> in 2020. Different risk factors have been identified in the pathogenesis of prostate cancer. Among them, </span>genetic factors and alterations or mutations in specific genes have been described in different ethnic groups worldwide. The aim of our study is to report the prevalence of </span></span>germline DNA-repair gene mutations in Mexican patients with prostate cancer.</div></div><div><h3>Material and method</h3><div>We performed germline genetic testing in 50 patients with localized prostate cancer and 50 patients with metastatic prostate cancer. Demographic, clinical, and histopathological data were collected.</div></div><div><h3>Results</h3><div><span>Thirty-seven germline mutations were identified in 32 patients. The most commonly affected genes were </span><em>ATM</em> in 6%, followed by <span><em>FANCA</em></span> (5%), and <em>ATR</em> (4%). <span><span>BRCA2</span></span> mutations were identified in 3%. The frequency of mutations was higher in the metastatic group.</div></div><div><h3>Discussion and conclusion</h3><div><span>The results of our study show different mutations from those reported in different populations or regions. The use of PARP inhibitors<span> is indicated in patients with germline mutations, specifically BRCA2, showing improvement in </span></span>overall survival<span> and progression free survival. To our knowledge, this is the first study reporting the prevalence of mutations in DNA-repair genes in Mexican patients with prostate cancer.</span></div></div>","PeriodicalId":94291,"journal":{"name":"Actas urologicas espanolas","volume":"48 8","pages":"Pages 588-595"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Actas urologicas espanolas","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2173578624000696","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction and objective
Mexico reported 26,742 new cases of prostate cancer in 2020. Different risk factors have been identified in the pathogenesis of prostate cancer. Among them, genetic factors and alterations or mutations in specific genes have been described in different ethnic groups worldwide. The aim of our study is to report the prevalence of germline DNA-repair gene mutations in Mexican patients with prostate cancer.
Material and method
We performed germline genetic testing in 50 patients with localized prostate cancer and 50 patients with metastatic prostate cancer. Demographic, clinical, and histopathological data were collected.
Results
Thirty-seven germline mutations were identified in 32 patients. The most commonly affected genes were ATM in 6%, followed by FANCA (5%), and ATR (4%). BRCA2 mutations were identified in 3%. The frequency of mutations was higher in the metastatic group.
Discussion and conclusion
The results of our study show different mutations from those reported in different populations or regions. The use of PARP inhibitors is indicated in patients with germline mutations, specifically BRCA2, showing improvement in overall survival and progression free survival. To our knowledge, this is the first study reporting the prevalence of mutations in DNA-repair genes in Mexican patients with prostate cancer.