《生命科学》 2012, 24(10): 1197-1201

乳腺癌易感基因BRCA1的研究进展

熊　鸣

(海军总医院基础医学研究中心，北京 100048)

摘　要：

摘　要：BRCA1基因是目前发现的外显率最高的乳腺癌易感基因之一，编码一个相对分子质量为220 000的多功能核蛋白，作用于一系列维持基因组稳定性的细胞通路，包括DNA损伤修复、细胞周期检验点激活、蛋白泛素化、染色质重组，以及转录调控和凋亡等。BRCA1丢失将导致显著的遗传不稳定性和生长停滞。着重介绍近年来BRCA1基础研究方面的进展，并讨论BRCA1与乳腺癌的临床关联性。

    

关键词：乳腺癌易感基因1；基因组稳定性；突变；乳腺癌

    

中图分类号：Q754；R737.9　　文献标志码：A

Advance in researches on BRCA1

XIONG Ming

(Center of Basic Medical Science， Navy General Hospital of Chinese PLA ， Beijing 100048， China)

Abstract:

 Abstract: BRCA1 is one of the highest penetrance breast cancer susceptibility genes. The gene product of BRCA1， which is a 220 000 (Mr) nuclear localized multifunctional protein， functions in a number of cellular pathways that maintain genomic stability， including DNA damage repair， cell-cycle checkpoint activation， protein ubiquitination， chromatin remodeling， as well as transcriptional regulation and apoptosis. Loss of BRCA1 may lead to prominent genetic instability and growth arrest. In this paper， advance in basic researches on BRCA1 is reviewed， and the clinical relevance of BRCA1 with breast cancer is discussed.

    

Key words: breast cancer susceptibility gene 1; genome stability; mutation; breast cancer

    

收稿日期：2012-04-17； 修回日期：2012-06-08

    

*通信作者：E-mail: wldxming@126.com; Tel: 010-66951487