DNA同源重组修复与乳腺癌的研究进展

Research progress of relationship between DNA homologous recombination repair and breast cancer

双链断裂是真核细胞最严重的DNA损伤类型,主要依赖同源重组途径进行修复。BRCA1/2是该修复通路中的关键因子,以其为核心组成的BRCA肿瘤抑制因子网络中多种致病性突变均可损伤基因组完整性和稳定性,增高乳腺癌易感性。该文结合最新研究进展,对DNA同源重组修复网络中关键基因突变与乳腺癌易感性及个体化治疗策略进行综述,旨在促进相关突变携带者的乳腺癌早期预防、分子诊断和精准治疗。

Double-strand DNA breaks （ DSBs） are the most dele-terious events in eukaryotic cells , and there are two major path-ways for repairing them： homologous recombination （ HR ） and non-homologous DNA end joining （ NHEJ ） .BRCA1/2 proteins are key factors in HR repair pathway for DSBs and play an es-sential role in BRCA tumor suppressor network , which maintains genomic integrity and stability .Pathogenic mutations of core genes in this network may damage the DNA repair process and increase the risk of breast cancer .This review summarizes the＆nbsp;current reports on the relationship between breast cancer suscep-tibility and mutations of the key factors in DNA HR repair asso-ciated tumor suppressor network , and aims at promoting the pre-vention, molecular diagnosis and precision treatment of the breast cancer patients with aforementioned mutations .