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遗传因素对转移性前列腺癌的影响。

Genetic Contribution to Metastatic Prostate Cancer.

机构信息

Department of Medicine (Div. Oncology), University of Washington, Seattle, WA, USA; Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA; VA Puget Sound Health Care System, Seattle, WA, USA.

Fox Chase Cancer Center, Philadelphia, PA, USA.

出版信息

Urol Clin North Am. 2021 Aug;48(3):349-363. doi: 10.1016/j.ucl.2021.03.005. Epub 2021 Jun 10.

Abstract

Recent studies show that the prevalence of germline pathogenic and likely pathogenic variants (also known as mutations) in DNA repair genes in metastatic prostate cancer is higher than previously recognized and higher than in unaffected men. Specific gene dysfunction is important in prostate cancer initiation and/or evolution to metastases. This article reviews key literature on individual genes, recognizing BRCA2 as the gene most commonly altered in the metastatic setting. This article discusses the importance of representative and diverse inclusion, and efforts to advance management for at-risk carrier populations to maximize clinical benefit.

摘要

最近的研究表明,转移性前列腺癌中 DNA 修复基因种系致病性和可能致病性变异(也称为突变)的流行率高于先前认识到的水平,并且高于无影响男性。特定基因功能障碍在前列腺癌的发生和/或转移中起着重要作用。本文综述了关于个别基因的关键文献,认为 BRCA2 是转移性环境中最常改变的基因。本文讨论了代表性和多样性纳入的重要性,以及为最大限度地提高临床获益而努力为高危携带者群体推进管理的重要性。

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