BRCA1基因与乳腺癌的诊断治疗

乳腺癌易感基因1（BRCA1）是乳腺癌的危险因素之一，是迄今为止发现的与乳腺癌发生相关的最重的抑癌基因。其在遗传性乳腺癌患者中具有高的突变率，已成为国外临床评估女性患乳腺癌风险和指导治疗方案选择的重分子标志物。本文主介绍了BRCA1基因的结构和功能；常用BRCA1基因检测方法，如蛋白质截断测试、单链构象多态性检测、变性高效液相色谱分析技术、多重连接探针扩增技术、高分辨率熔解曲线；BRCA1基因在中国乳腺癌人群中突变情况；BRCA1基因在外科治疗和抗肿瘤药物选择方面中的应用等。

The diagnosis and treatment progress of BRCA1 gene in breast cancer

BRCA1 gene, a risk factor for breast cancer, is currently the most important tumor suppressor gene which associated with breast cancer. It is found that patients with hereditary breast cancer have a higher mutation rate. The gene has gradually become an indispensable molecular marker which helps doctors to assess the risk of breast cancer and guides the selection of the treatment options. Here we review the structure and function in the BRCA1 gene. Several main detection methods are analyzed in detail, such as protein truncation test, single-strand conformation polymorphism, denaturing high performance liquid chromatography, multiplex ligation-dependent probe amplification and high resolution melting. BRCA1 gene mutations in Chinese patients and the role of BRCA1 gene in the surgical treatment and the application of antitumor drug selection have be concluded.