Background/Objectives:Male breast cancer (MBC) is a rare malignancy representing less than 1% of all breast cancer cases, with rising incidence worldwide. Current treatment strategies largely rely on extrapolation from female breast cancer, despite clear biological and clinical distinctions. This review aims to summarize current knowledge on non-metastatic MBC, with a particular focus on genetic predisposition, tumor biology, and recent therapeutic advances.Methods:A systematic literature search was conducted using PubMed and PMC databases to identify clinical trials, observational studies and systematic reviews related to MBC published up to 1st June, 2025. Studies were selected for their relevance to genetic and molecular features, as well as treatment outcomes in non-metastatic disease.Results:Fifty-one studies were included in the review. Findings confirm the predominance of hormone receptor–positive tumors in MBC and underscore the central role ofBRCA2mutations. Germline mutations inBRCA2andBRCA1were reported in approximately 1 and 2% of male cases, respectively. Additional germline alterations were identified inPALB2,CHEK2, and other DNA repair genes. Comparative analyses of surgical approaches showed no significant difference in survival between breast-conserving surgery and mastectomy. Postmastectomy radiotherapy improved overall survival compared to surgery alone. Adjuvant tamoxifen therapy was independently associated with significant survival benefits, although adherence remains a challenge.Conclusions:MBC is a biologically distinct and molecularly heterogeneous disease. Breast-conserving surgery appears safe and effective in selected patients. Adjuvant radiotherapy and tamoxifen confer clear survival advantages. The lack of male-specific clinical trials remains a major limitation in optimizing evidence-based care for MBC.
背景/目的：男性乳腺癌是一种罕见恶性肿瘤，占所有乳腺癌病例比例不足1%，全球发病率呈上升趋势。尽管存在明确的生物学和临床差异，当前治疗策略主要借鉴自女性乳腺癌。本综述旨在总结当前关于非转移性男性乳腺癌的认知，重点关注遗传易感性、肿瘤生物学特征及最新治疗进展。 方法：通过PubMed和PMC数据库进行系统性文献检索，纳入截至2025年6月1日发表的男性乳腺癌相关临床试验、观察性研究及系统综述。根据研究与非转移性疾病遗传分子特征及治疗结局的相关性进行筛选。 结果：共纳入51项研究。研究结果证实激素受体阳性肿瘤在男性乳腺癌中占主导地位，并突显BRCA2基因突变的核心作用。约1%和2%的男性病例分别报告存在BRCA2和BRCA1种系突变。在PALB2、CHEK2及其他DNA修复基因中也发现了其他种系变异。手术方式的比较分析显示保乳手术与乳房切除术的生存率无显著差异。与单纯手术相比，乳房切除术后放疗可提高总生存率。辅助他莫昔芬治疗与显著生存获益独立相关，但治疗依从性仍是挑战。 结论：男性乳腺癌是一种具有独特生物学特性和分子异质性的疾病。保乳手术在特定患者中安全有效。辅助放疗和他莫昔芬治疗能带来明确的生存获益。缺乏针对男性的特异性临床试验仍是优化男性乳腺癌循证治疗的主要限制因素。
肿瘤(癌症)患者之家