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BRCA1/BRCA2是DNA同源重组途径中的重要因子。BRCA1/BRCA在维护染色体完整性有着重要作用,BRCA1、BRCA2基因的关键区域突变会增加细胞敏感性,导致肿瘤突变。本综述从基因组水平及分子水平对BRCA1/2的基因结构功能,修复中的作用机制以及在乳腺癌个性化诊疗手段等方面进行介绍,并阐述了国内外与乳腺癌BRCA基因突变相关的研究现状及BRCA基因突变几种有效的检测方法,希望针对携带BRCA1/BRCA2基因突变的新型药物和靶向治疗方案日益完善,最后对未来乳腺癌更“个性化”、“先进化”的治疗方案进行了展望。
BRCA1 / BRCA2 is an important factor in DNA homologous recombination pathway. BRCA1 / BRCA plays an important role in maintaining chromosomal integrity. Mutations in BRCA1 and BRCA2 genes may increase cell sensitivity and cause tumor mutations. This review summarizes the gene structure and function of BRCA1 / 2, the mechanism of its repair and the means of personalized diagnosis and treatment of BRCA1 / 2 at genomic level and molecular level, and presents the current research status of BRCA gene mutation in breast cancer at home and abroad And BRCA gene mutations in several effective detection methods, hope for carrying BRCA1 / BRCA2 mutations in new drugs and targeted treatment programs continue to improve, and finally the future of breast cancer more “personalized ”, “advanced ” The treatment plan is prospected.