目的：探讨家族史的作用，种族/民族,和遗传学在前列腺癌(PCa)筛查中的应用。
方法：我们对2013年1月至2023年9月的文章进行了系统回顾，重点研究了种族/民族和遗传因素对PCa检测的关联。在10815项研究中，我们确定了43个符合我们预先确定的PICO(患者，干预,比较和结果)标准。
结果：患有PCa的一级亲属≥1的男性患PCa的风险增加，即使成像阴性和/或良性前列腺活检。黑人有更高的PCa风险，而亚洲男性的风险较低。大多数风险差异可归因于环境和社会经济因素；然而，遗传差异可能起作用。在众多增加PCa风险的致病变种中，BRCA2、MSH2和HOXB13突变赋予PCa的最高风险。多基因风险评分（PRS）模型可识别给定年龄和PSA的PCa风险较高的男性；当考虑其他临床因素以及模型人群与研究人群的血统匹配时，这些模型会有所改善。
结论：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,在确定PCa筛查方案时,应在共同决策中加以考虑.
OBJECTIVE: To investigate the role of family history, race/ethnicity, and genetics in prostate cancer (PCa) screening.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
