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具有治疗意义的前列腺癌种系变异

Prostate cancer germline variants with therapeutic implications.

作者信息

Bitaraf Masoud, Castro Elena, Sharifi Nima

机构信息

Desai Sethi Urology Institute, University of Miami Miller School of Medicine, Miami, FL, USA; Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL, USA.

Hospital Universitario 12 de Octubre, Madrid, Spain.

出版信息

Trends Mol Med. 2025 Jul 30. doi: 10.1016/j.molmed.2025.07.004.

Abstract

Prostate cancer, the most prevalent noncutaneous cancer and the second leading cause of cancer death among men, is highly heritable. Germline alterations in genes involved in DNA damage repair and the androgen synthesis pathway are associated with worse outcomes. Pathogenic variants in BRCA1, BRCA2, and HSD3B1 are the most prevalent alterations in men with advanced prostate cancer and are associated with increased risk of disease development and progression. These variants are pharmacologically actionable. Poly (ADP-ribose) polymerase (PARP) inhibitors have shown survival benefits in carriers of BRCA1/2 mutations, while HSD3B1 adrenal-permissive carriers might benefit from early intensified androgen blockade treatment. This review explores the impact of pathogenic germline alterations associated with prostate cancer, with a focus on common, clinically actionable variants.

摘要

前列腺癌是最常见的非皮肤癌,也是男性癌症死亡的第二大主要原因,具有高度遗传性。参与DNA损伤修复和雄激素合成途径的基因种系改变与更差的预后相关。BRCA1、BRCA2和HSD3B1中的致病变异是晚期前列腺癌男性中最常见的改变,与疾病发生和进展风险增加相关。这些变异在药理上是可作用的。聚(ADP-核糖)聚合酶(PARP)抑制剂已在BRCA1/2突变携带者中显示出生存益处,而HSD3B1肾上腺允许性携带者可能从早期强化雄激素阻断治疗中获益。本综述探讨了与前列腺癌相关的致病种系改变的影响,重点关注常见的、临床上可作用的变异。

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