BRCA1基因与乳腺癌的研究进展

The Gene of BRCA1 and Breast Cancer

乳腺癌是女性最常见的恶性肿瘤。BRCA1是重要的乳腺癌易感基因,亦是一种抑癌基因。它参与了细胞周期的调节,DNA损伤修复,基因的转录调控等功能。BRCAl基因的突变与家族性乳腺癌的发生密切相关,而BRCA1蛋白在散发性乳腺癌中的表达水平降低,提示其在散发性乳腺癌中也有重要作用。该文将对BRCA1的基因突变,甲基化和多态性等遗传学改变与乳腺癌的易感性,治疗和预后作了综述。了解BRCA1与乳腺癌的发生、发展及预后。

Breast cancer was the most common cancer in women. The BRCA1 gene was a tumor suppressor gene which playsed on important role in breast cancer. The BRCA1 protein has various functions including DNA repair, regulation of cell cycle checkpoints and transcription regulation. Women with BRCA1 mutation predisposed to develope breast cancer. The identification of low expression of the BRCA1 protein in sporadic breast cancer also extended its significance to sporadic breast cancer. In this article, the genetic changes of BRCA1, such as mutations, methylations and polymorhisms were reviewed. In addition, their role in the risk and prognosis of breast cancer were also discussed.