BRCA1基因突变及启动子甲基化与乳腺癌

The correlation between the BRCA1 gene mutation,promoter methylation and breast cancer genesis

乳腺癌是女性最常见的癌症,乳腺癌易感基因1(BRCA1)是研究比较深入的乳腺癌的抑癌基因。BRCA1基因失活,将会促进乳腺癌的发生。目前的研究成果比较倾向于认为:BRCA1基因突变与遗传性乳腺癌关系比较密切,基因突变位点多种多样,不同种族间各异;而在散发性乳腺癌中,启动子甲基化是BRCA1基因失活的主要方式,并且与散发性乳腺癌的病理学、免疫学及临床特征等参数间存在相关性。

Breast cancer is the most common carcinoma in women,breast cancer susceptibility gene 1(BRCA1)is a tumor suppressor gene.The inactivation of BRCA1 take part in the development of breast cancer.There is close correlation between BRCA1 gene mutation and hereditary breast cancer,the site and type of BRCA1 mutation is varied among different races.On the other hand,the methylation of BRCA1 promoter is the main reason of BRCA1 inactivation in sporadic breast cancers,and it's associate with the patho-clinical characteristic of sporadic breast cancers.