前列腺癌(PCa)是主要的死因之一，部分源于遗传。通过早期检测和预防来减少PCa死亡率的策略中，遗传风险评估可能会有用。评估遗传风险预测前列腺癌的证据。使用PubMed和Google Scholar进行协作文献综述。搜索词包括遗传、风险、预测和“前列腺癌”。优先考虑关于筛查、早期检测或预防的文章，以及涉及多样人群的研究。罕见的致病突变(RPMs)，特别是在DNA损伤修复基因中，会增加前列腺癌的风险。BRCA2中的RPMs是最明显的有害因素，可能会使前列腺癌的风险增加2-8.6倍，也会增加恶性疾病的风险。常见的基因变异可以合并成基因风险评分(GRSs)。高GRS(人口的前20-25%)比平均水平有两到三倍的前列腺癌风险；非常高的GRS(人口的前1-5%)则有六到八倍的风险。GRSs对于恶性前列腺癌并不具有特异性，可能是由于方法上的限制和/或高低级别前列腺癌风险上的领域效应。区分遗传学和结构性种族主义以及健康社会决策因素难以理解前列腺癌的种族差异。在考虑家族病史和种族/族裔后，GRSs与致命前列腺癌风险独立相关。健康的生活方式可能部分缓解致命前列腺癌的风险。遗传风险评估变得越来越普遍;实施研究旨在了解其影响并避免加剧医疗保健不平等。对于具有高前列腺癌遗传风险的人，可以合理地鼓励他们坚持健康的生活方式。前列腺癌风险通过罕见的突变和数百个常见的基因标记的组合来传递。一些具有高遗传风险的男性(特别是BRCA2突变)可能受益于早期前列腺癌筛查。通过健康的生活方式可以减少致命前列腺癌的风险。版权所有©2022年欧洲泌尿科协会。保留所有权利。

Prostate cancer (PCa) is a leading cause of death and partially heritable. Genetic risk prediction might be useful for strategies to reduce PCa mortality through early detection and prevention.To review evidence for genetic risk prediction for PCa.A collaborative literature review was conducted using PubMed and Google Scholar. Search terms included genetic, risk, prediction, and "prostate cancer". Articles addressing screening, early detection, or prevention were prioritized, as were studies involving diverse populations.Rare pathogenic mutations (RPMs), especially in DNA damage repair genes, increase PCa risk. RPMs in BRCA2 are most clearly deleterious, conferring 2-8.6 times higher risk of PCa and a higher risk of aggressive disease. Common genetic variants can be combined into genetic risk scores (GRSs). A high GRS (top 20-25% of the population) confers two to three times higher risk of PCa than average; a very high GRS (top 1-5%) confers six to eight times higher risk. GRSs are not specific for aggressive PCa, possibly due to methodological limitations and/or a field effect of an elevated risk for both low- and high-grade PCa. It is challenging to disentangle genetics from structural racism and social determinants of health to understand PCa racial disparities. GRSs are independently associated with a lethal PCa risk after accounting for family history and race/ancestry. Healthy lifestyle might partially mitigate the risk of lethal PCa.Genetic risk assessment is becoming more common; implementation studies are needed to understand the implications and to avoid exacerbating healthcare disparities. Men with a high genetic risk of PCa can reasonably be encouraged to adhere to a healthy lifestyle.Prostate cancer risk is inherited through rare mutations and through the combination of hundreds of common genetic markers. Some men with a high genetic risk (especially BRCA2 mutations) likely benefit from early screening for prostate cancer. The risk of lethal prostate cancer can be reduced through a healthy lifestyle.Copyright © 2022 European Association of Urology. All rights reserved.