突变的BRCA1和BRCA2肿瘤抑制基因与前列腺癌风险有关，然而，对于这些突变个体的最佳筛查方案一直存在争议。多项前瞻性前列腺癌发病率和BRCA1/2突变携带者筛查研究表明与普通人群相比，携带BRCA2突变的人患前列腺癌的风险至少增加两到四倍。此外，BRCA2突变与诊断时更具侵袭性、高级别恶性特征、更具侵犯性的临床行为和更高的前列腺癌特异性死亡率有关。与BRCA2相比，BRCA1的风险似乎有所减弱。前列腺特异性抗原（PSA）测量或前列腺磁共振成像（MRI）单独是临床重要前列腺癌的不完美指标；因此，BRCA1/2突变携带者可能从更精细的风险分层策略中受益。然而，前列腺癌筛查的长期影响尚不清楚，并且没有定义BRCA1/2携带者前列腺癌的最佳管理方法。筛查人群中及时的局部治疗是否能提高总体生存率尚不确定。期待前瞻性研究的长期结果，以确认BRCA1/2突变携带者的最佳筛查策略和前列腺癌筛查的益处，以及这些方法最终对这些患者的生存和生活质量是否产生积极影响。©2023 Springer Nature 有限公司。

Mutations in the BRCA1 and BRCA2 tumour suppressor genes are associated with prostate cancer risk; however, optimal screening protocols for individuals with these mutations have been a subject of debate. Several prospective studies of prostate cancer incidence and screening among BRCA1/2 mutation carriers have indicated at least a twofold to fourfold increase in prostate cancer risk among carriers of BRCA2 mutations compared with the general population. Moreover, BRCA2 mutations are associated with more aggressive, high-grade disease characteristics at diagnosis, more aggressive clinical behaviour and greater prostate cancer-specific mortality. The risk for BRCA1 mutations seems to be attenuated compared with BRCA2. Prostate-specific antigen (PSA) measurement or prostate magnetic resonance imaging (MRI) alone is an imperfect indicator of clinically significant prostate cancer; therefore, BRCA1/2 mutation carriers might benefit from refined risk stratification strategies. However, the long-term impact of prostate cancer screening is unknown, and the optimal management of BRCA1/2 carriers with prostate cancer has not been defined. Whether timely localized therapy can improve overall survival in the screened population is uncertain. Long-term results of prospective studies are awaited to confirm the optimal screening strategies and benefits of prostate cancer screening among BRCA1/2 mutation carriers, and whether these approaches ultimately have a positive impact on survival and quality of life in these patients.© 2023. Springer Nature Limited.