中国癌症杂志2026，Vol.36Issue(4)：395-403,9.DOI:10.19401/j.cnki.1007-3639.2026.04.008
男性乳腺癌基因组突变特征及治疗研究进展
Advances in the genomic mutational landscape and therapeutic strategies of male breast cancer
赵杨思远 1王泽浩 1吴炅1
作者信息
- 1. 复旦大学附属肿瘤医院乳腺外科,复旦大学上海医学院肿瘤学系,上海 200032
- 折叠
摘要
Abstract
Male breast cancer(MBC)accounts for less than 1%of all breast cancers,but the global incidence rate has increased in recent years.Compared to female patients,MBC typically presents at a later age and possesses distinct molecular biological characteristics.Histologically,MBC usually presents as hormone receptor-positive and human epidermal growth factor receptor 2(HER2)-negative.Carcinoma in situ and invasive trait carcinoma are common,while special types of carcinoma are rare.In recent years,MBC has achieved significant progress in research on genomic mutation signatures and therapeutic approaches.Genomic profiling identifies abnormalities in DNA damage response pathways as a hallmark genetic feature of MBC,characterized by a high frequency of germline BRCA2 mutations as well as pathogenic variants in PALB2 and CHEK2.Additionally,dysregulation of the phosphoinositide 3-kinase(PI3K)/protein kinase(AKT)/mammalian target of rapamycin(mTOR)signaling pathway offers potential targets for therapy.In contrast to female breast cancer,the frequency of TP53 somatic mutations is lower in MBC.Although precision oncology strategies,such as poly(ADP-ribose)polymerase inhibitors(PARPi)and PI3K pathway inhibitors,have demonstrated clear clinical benefits in female patients,high-quality prospective studies and robust evidence-based data specifically for MBC remain scarce.This article reviews the key molecular genetic features and clinical trial progress of MBC,aiming to provide a reference for precision treatment and the design of future clinical trials.关键词
男性乳腺癌/基因突变/分子生物学/分子靶向治疗/临床试验Key words
Male breast neoplasms/Genetic mutations/Molecular characteristics/Molecular targeted therapy/Clinical trial分类
医药卫生引用本文复制引用
赵杨思远,王泽浩,吴炅..男性乳腺癌基因组突变特征及治疗研究进展[J].中国癌症杂志,2026,36(4):395-403,9.
