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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。
Human breast cancer susceptibility gene 1 (BRCA1) was first found in the breast cancer family and was a predisposed genetic predisposition to breast and ovarian cancer. Its genetic mutation was associated with familial breast cancer and Ovarian cancer are closely linked. BRCA1 is a tumor suppressor gene whose gene products can participate in multiple cell signaling pathways that maintain genomic stability, such as DNA damage-induced cell cycle regulation, DNA damage repair, gene transcription regulation, apoptosis, ubiquitination and the like Cell activity. This review summarizes recent advances in the role of BRCA1 in DNA damage repair, including DNA damage-induced cell cycle checkpoint activation and DNA damage repair.