乳腺癌中BRCA1基因突变与雌激素受体研究进展

乳腺癌的发生是一系列基因改变的结果。BRCA1是遗传性乳腺癌易感基因，其结构、功能异常与乳腺癌的发生发展有十分密切的联系。雌激素受体（ER）作为乳腺癌的生物学标志物，是目前较为可靠的指导治疗和判定预后的重要指标。研究乳腺癌中BRCA1基因突变与雌激素受体的关系，对阐明乳腺癌的发病机制、早期诊断及治疗有意义。

BRCA1 mutations and estrogen receptors in human breast cancer

Carcinogenesis of breast cancer is the result of a series of genes mutations. BRCA1 is an important breast cancer susceptibility gene,and germline mutations in BRCA1 gene are responsible for most familial breast carcinomas. BRCA1 plays a role in a wide range of biological structures and processes,including cell cycle regulation, DNA repair and apoptosis. BRCA1 deficiency, consequently causes abnormalities in cell cycle progression. In recent years estrogen receptor has become a major biomarker for diagnosis, monitoring disease progression, predicting disease recurrence and therapeutic treatment efficacy of breast cancer. Functional analysis of the correlation between BRCA1 mutations and estrogen receptors should benefit the understanding of the mechanisms underlying BRCA1 associated tumorigenesis,as well as early diagnosis and therapy.