{"title":"墨西哥男性前列腺癌患者 DNA 修复基因突变的发生率。","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":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\":null,\"pages\":null},\"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}","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
摘要
导言和目标:据报告,2020 年墨西哥新增前列腺癌病例 26 742 例。在前列腺癌的发病机制中发现了不同的风险因素。其中,遗传因素和特定基因的改变或突变已在全球不同种族群体中得到描述。我们的研究旨在报告墨西哥前列腺癌患者种系 DNA 修复基因突变的发生率:我们对 50 名局部前列腺癌患者和 50 名转移性前列腺癌患者进行了种系基因检测。收集了人口统计学、临床和组织病理学数据:结果:在 32 名患者中发现了 37 个基因突变。最常受影响的基因是ATM,占6%,其次是FANCA(5%)和ATR(4%)。BRCA2基因突变占3%。在转移组中,基因突变的频率更高:我们的研究结果显示,不同人群或地区的突变情况有所不同。PARP抑制剂适用于有基因突变(尤其是BRCA2)的患者,可改善总生存期和无进展生存期。据我们所知,这是第一项报告墨西哥前列腺癌患者 DNA 修复基因突变发生率的研究。
Prevalence of DNA-Repair Gene mutations in Mexican men with prostate cancer
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.