Section of Urology, University of Chicago, Chicago, IL.
Nomadic E.B.M. Methodology.
Urol Oncol. 2025 Jan;43(1):29-40. doi: 10.1016/j.urolonc.2024.06.002. Epub 2024 Jul 15.
To investigate the role of family history, race/ethnicity, and genetics in prostate cancer (PCa) screening.
We conducted a systematic review of articles from January 2013 through September 2023 that focused on the association of race/ethnicity and genetic factors on PCa detection. Of 10,815 studies, we identified 43 that fulfilled our pre-determined PICO (Patient, Intervention, Comparison and Outcome) criteria.
Men with ≥1 first-degree relative(s) with PCa are at increased risk of PCa, even with negative imaging and/or benign prostate biopsy. Black men have higher PCa risk, while Asian men have lower risk. Most of the differences in risks are attributable to environmental and socioeconomic factors; however, genetic differences may play a role. Among numerous pathogenic variants that increase PCa risk, BRCA2, MSH2, and HOXB13 mutations confer the highest risk of PCa. Polygenic risk score (PRS) models identify men at higher PCa risk for a given age and PSA; these models improve when considering other clinical factors and when the model population matches the study population's ancestry.
Family history of PCa, race/ethnicity, pathogenic variants (particularly BRCA2, MSH2, and HOXB13), and PRS are associated with increased PCa risk and should be considered in shared decision-making to determine PCa screening regimens.
探讨家族史、种族/民族和遗传因素在前列腺癌（PCa）筛查中的作用。
我们对 2013 年 1 月至 2023 年 9 月期间专注于种族/民族和遗传因素对 PCa 检测影响的文章进行了系统回顾。在 10815 项研究中，我们确定了 43 项符合我们预先确定的 PICO（患者、干预、比较和结局）标准的研究。
有≥1 位一级亲属（父母、兄弟姐妹、子女）患有 PCa 的男性，即使影像学和/或前列腺良性活检结果为阴性，也有更高的 PCa 患病风险。黑人男性患 PCa 的风险较高，而亚洲男性的风险较低。大多数风险差异归因于环境和社会经济因素；然而，遗传差异可能也起作用。在增加 PCa 风险的众多致病性变异中，BRCA2、MSH2 和 HOXB13 突变导致的 PCa 风险最高。多基因风险评分（PRS）模型可识别出在特定年龄和 PSA 下具有更高 PCa 风险的男性；当考虑其他临床因素并且模型人群与研究人群的祖源相匹配时，这些模型会得到改善。
PCa 家族史、种族/民族、致病性变异（特别是 BRCA2、MSH2 和 HOXB13）和 PRS 与 PCa 风险增加相关，应在共同决策中考虑这些因素，以确定 PCa 筛查方案。
