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乳腺癌易感基因1(BRCA1)是具有遗传倾向的乳腺癌和卵巢癌的易感基因,且是一种抑癌基因。BRCA1基因的突变与家族性乳腺癌及它在细胞周期的调节,DNA损伤修复,基因的转录调控和诱导细胞凋亡方面起着重要作用。BRCAl基因的突变与家族性乳腺癌及卵巢癌的发生密切相关,对BRCA1分子功能的研究,将有利于阐明肿瘤发生的机理关。BRCA1的启动子甲基化与散发性乳腺癌有关。本文拟对BRCA1的结构,功能以及它的甲基化,突变,杂合性丢失对乳腺癌的影响作一综述。
Breast Cancer Susceptibility Gene 1 (BRCA1) is a susceptible gene with genetic predisposition to breast and ovarian cancer and is a tumor suppressor gene. The BRCA1 mutation is associated with familial breast cancer and plays an important role in the regulation of the cell cycle, repair of DNA damage, transcriptional regulation of genes and induction of apoptosis. The mutation of BRCA1 gene is closely related to the occurrence of familial breast cancer and ovarian cancer. The study on the function of BRCA1 will help clarify the mechanism of tumorigenesis. Promoter methylation of BRCA1 is associated with sporadic breast cancer. This article intends to review the structure, function, and methylation, mutation and loss of heterozygosity of BRCA1 in breast cancer.