McHugh Jana, Bancroft Elizabeth, Kote-Jarai Zsofia, Eeles Rosalind
The Institute of Cancer Research, 123 Old Brompton Road, London, SW7 3RP, UK.
The Royal Marsden NHS Foundation Trust, Fulham Road, London, SW3 6JJ, UK.
Hered Cancer Clin Pract. 2025 Mar 25;23(1):11. doi: 10.1186/s13053-025-00310-1.
Prostate Cancer (PrCa) is one of the most common cancers worldwide and causes a significant healthcare burden. Recent predictions estimate the incidence of new cases of PrCa will double from 1.4 million in 2020 to 2.9 million by 2040.The known risk factors for PrCa are increasing age, family history, ancestry and genetics. PrCa is one of the most heritable of the more common cancers. The heritability of PrCa is due to both rare moderate to high-risk monogenic variants and more common variants known as single nucleotide polymorphisms (SNPs) which can be used to calculate a polygenic risk score (PRS) for PrCa, while there is some of the genetic risk as yet unexplained. In recent years more PrCa risk-associated SNPs have been identified, increasing over time with the inclusion of more persons of diverse ancestry in studies. The identification of germline variants known to be associated with increased PrCa risk and disease aggressiveness has led to targeted treatments for certain pathogenic variant carriers.This is a mini review of how the genetics of PrCa can impact on screening and early detection of the disease and the treatment and management of the disease when diagnosed.
前列腺癌（PrCa）是全球最常见的癌症之一，造成了巨大的医疗负担。最近的预测估计，PrCa新发病例的发病率将从2020年的140万例翻倍，到2040年达到290万例。PrCa已知的风险因素包括年龄增长、家族病史、血统和基因。PrCa是较常见癌症中遗传性最强的癌症之一。PrCa的遗传性既归因于罕见的中度至高度风险单基因变异，也归因于更常见的单核苷酸多态性（SNP）变异，后者可用于计算PrCa的多基因风险评分（PRS），不过仍有一些遗传风险尚未得到解释。近年来，已鉴定出更多与PrCa风险相关的SNP，随着研究中纳入更多不同血统的人，其数量也在不断增加。已鉴定出已知与PrCa风险增加和疾病侵袭性相关的种系变异，这使得针对某些致病变异携带者的靶向治疗成为可能。本文是一篇小型综述，阐述了PrCa的遗传学如何影响该疾病的筛查、早期检测以及确诊后的治疗和管理。
