文章：

祖先特异性DNA损伤修复基因突变与前列腺癌

Ancestry-Specific DNA Damage Repair Gene Mutations and Prostate Cancer

原文发布日期：18 February 2025

DOI: 10.3390/cancers17040682

类型: Article

开放获取: 是

英文摘要：

This review is intended to reflect the currently available literature on both clinically significant germline mutations in DNA damage repair (DDR) genes as well as the importance of ancestral diversity in the pathogenesis of prostate cancer (PCa). The second most prevalent cancer worldwide in men is PCa, causing significant morbidity and mortality in its advanced stage. Emerging data highlight the substantial role of germline mutations of DDR genes in PCa pathogenesis, especially in progression to aggressive forms of the disease. Germline genetic testing is recognized as a necessary tool for efficient, individualized patient care. NCCR guidelines recommend inquiring about the family history of PCa and known germline variants and, if indicated, proceeding with germline multigene testing followed by post-test genetic counseling. Depending on the germline mutations in HR repair genes or in MMR genes, specific treatment options may provide clinical benefit. We will discuss specific germline mutations that are involved in PCa progression and prognosis in racially diverse populations.

摘要翻译： 

本综述旨在梳理当前关于DNA损伤修复（DDR）基因中具有临床意义的胚系突变，以及种族多样性在前列腺癌（PCa）发病机制中重要性的现有文献。前列腺癌是全球男性第二大常见癌症，其晚期阶段会导致显著的发病率和死亡率。最新研究数据凸显了DDR基因胚系突变在前列腺癌发病机制中的重要作用，尤其是在疾病进展为侵袭性类型的过程中。胚系基因检测已被视为实现高效、个体化患者管理的必要工具。美国国家综合癌症网络（NCCN）指南建议，应详细询问患者的前列腺癌家族史及已知胚系变异情况，并在必要时进行胚系多基因检测，随后提供检测后遗传咨询。根据同源重组修复基因或错配修复基因中的特定胚系突变，针对性治疗方案可能带来临床获益。本文将重点探讨不同种族人群中与前列腺癌进展及预后相关的特定胚系突变。

原文链接：

Ancestry-Specific DNA Damage Repair Gene Mutations and Prostate Cancer