男性乳腺癌基因组突变特征及治疗研究进展OA

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.