BRCA1 和 BRCA2 遗传性癌症易感性变异携带者中有一半是男性，但与女性相比，其对健康的影响尚未得到充分认识。众所周知，BRCA1 和 BRCA2 的种系变异（也称为致病性或可能致病性变异，此处称为 BRCA1/2 PV）会显着增加女性携带者患乳腺癌和卵巢癌的风险，并且对 BRCA1/2 PV 的了解表明建立了癌症筛查和降低风险的选择。虽然 BRCA1/2 PV 男性携带者的风险尚不明确，但有令人信服的证据表明男性患前列腺癌、胰腺癌和乳腺癌的风险增加。美国食品和药物管理局批准的靶向癌症疗法也迅速扩展，包括聚 ADP 核糖聚合酶 (PARP) 抑制剂，用于治疗与 BRCA1/2 PV 相关的乳腺癌、胰腺癌和前列腺癌。这篇叙述性综述总结了数据告知癌症风险、有针对性的癌症治疗选择以及早期癌症检测指南。它还强调了男性 BRCA1/2 PV 携带者的新兴研究和临床试验机会领域。这些进展以及与家庭癌症风险和生殖选择的持续相关性，为基因检测指南建议的改变提供了信息，并强化了增加男性基因检测的理由。尽管 BRCA1/2 PV 男性携带者的临床可操作性不断增加，但接受癌症基因检测的男性人数少于女性。肿瘤学家、内科医生和初级保健临床医生应警惕为男性提供适当的基因检测。识别更多 BRCA1/2 PV 男性携带者将最大限度地增加男性癌症早期检测、有针对性的风险管理和癌症治疗的机会，并为其家庭成员提供降低和预防风险的机会，从而减轻遗传性癌症的负担。

Half of all carriers of inherited cancer-predisposing variants in BRCA1 and BRCA2 are male, but the implications for their health are underrecognized compared to female individuals. Germline variants in BRCA1 and BRCA2 (also known as pathogenic or likely pathogenic variants, referred to here as BRCA1/2 PVs) are well known to significantly increase the risk of breast and ovarian cancers in female carriers, and knowledge of BRCA1/2 PVs informs established cancer screening and options for risk reduction. While risks to male carriers of BRCA1/2 PVs are less characterized, there is convincing evidence of increased risk for prostate cancer, pancreatic cancer, and breast cancer in males. There has also been a rapid expansion of US Food and Drug Administration-approved targeted cancer therapies, including poly ADP ribose polymerase (PARP) inhibitors, for breast, pancreatic, and prostate cancers associated with BRCA1/2 PVs.This narrative review summarized the data that inform cancer risks, targeted cancer therapy options, and guidelines for early cancer detection. It also highlighted areas of emerging research and clinical trial opportunities for male BRCA1/2 PV carriers. These developments, along with the continued relevance to family cancer risk and reproductive options, have informed changes to guideline recommendations for genetic testing and strengthened the case for increased genetic testing for males.Despite increasing clinical actionability for male carriers of BRCA1/2 PVs, far fewer males than female individuals undergo cancer genetic testing. Oncologists, internists, and primary care clinicians should be vigilant about offering appropriate genetic testing to males. Identifying more male carriers of BRCA1/2 PVs will maximize opportunities for cancer early detection, targeted risk management, and cancer treatment for males, along with facilitating opportunities for risk reduction and prevention in their family members, thereby decreasing the burden of hereditary cancer.