BRCA1基因与乳腺癌  

The Gene of BRCA1 and Breast Carcinoma

作　　者：赵玉凤[1] 曹玉文[1] 李锋[1] 付欣鸽[2] 

机构地区：[1]石河子大学医学院病理学教研室,新疆石河子832000 [2]汕头大学第一附属医院病理科,广东汕头515041

出　　处：《现代生物医学进展》2009年第23期4584-4586,共3页Progress in Modern Biomedicine

基　　金：国家自然科学基金(30760072)

摘　　要：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。BRCA 1 which a tumor suppressor gene is the susceptibility gene that women are genetically predisposed to breast and ovary cancer.BRCAI mutation is closely associated with occurrence of the family breast and ovary cancer.It not only maintains the cell cycle running normally,and it also regulates cell cycle checkpoint when DNA is damaged.It ensures the nor-mal nitosis through keeping accurate copy of centrosome and form of spindle,and involved in the process of DNA danmification and repair through the interaction with the proteins which are esponsible for DNA damnification and repair in the cells.It has dual functions of transcriptional activation and suppression,and stimulates apoptosis with the interaction with apo-ptosis factors.The research of BRCA 1 function will be helpful to illuminating tumor mech anism.The BRCA1 mutation and familial breast cancer-related.BRCA1 methylation of the promoter has a close relation with sporadic breast carcinomas.cancer-related.This article BRCA1 to be on the structure functions,as well as its methylation,mutation,loss of heterozygosity on the impact of breast cancer are reviewed.

关 键 词：乳腺癌易感基因1 乳腺癌 突变 甲基化 杂合性丢失 

分 类 号：R737.9[医药卫生—肿瘤]