人类乳腺癌易感基因1(breast cancer susceptibility gene 1,BRCA1)首先是在乳腺癌家族中发现的,是具有遗传倾向的乳腺癌和卵巢癌易感基因,其基因的突变与家族性乳腺癌及卵巢癌的发生有密切联系。BRCA1是一种抑癌基因,其基因产物可以参与维持基因组稳定性的多条细胞信号通路,例如DNA损伤诱导的细胞周期调控、DNA损伤修复、基因转录调节、细胞凋亡、泛素化等重要的细胞活动。本文就近几年来BRCA1在DNA损伤修复中的作用的研究进展作一综述,包括DNA损伤诱导的细胞周期检查点的激活和DNA损伤修复两方面。
BRCA1 is a well-established tumor suppressor gene,which is frequently mutated in familial breast and ovarian cancers.The function of BRCA1 in a number of cellular pathways is to maintain genomic stability,including DNA damage-induced cell cycle checkpoint activation,DNA damage repair,transcriptional regulation,apoptosis and ubiquitination.In this review,we discuss recent advances regarding our understanding of the role of BRCA1 in DNA damage response,including DNA damage-induced cell cycle checkpoint activation and DNA damage repair.