新疆汉族、维吾尔族散发性乳腺癌患者 BRCA1基因甲基化及其临床意义的研究

摘要

目的：比较新疆地区维吾尔族和汉族散发性乳腺癌患者肿瘤抑制基因 BRCA1甲基化水平及其与临床病理特征的关系。方法收集新疆医科大学第一附属医院2004年12月－2014年3月手术切除新鲜组织标本190例，其中维吾尔族、汉族乳腺浸润性导管癌各45例，乳腺良性病变各50例，采用甲基化特异性 PCR（MSP）技术检测乳腺癌组织和乳腺良性病变组织中 BRCA1基因甲基化状态，荧光定量 PCR 技术检测 BRCA1基因 mRNA 水平。结果乳腺癌组织中 BRCA1基 因 甲 基 化 检 出 率 明 显 高 于 乳 腺 良 性 病 变 组 织，差异有统计学意义（P ＜0．05）。汉族和维吾尔族乳腺癌组织中 BRCA1基因甲基化均与乳腺癌组织学分级相关（P ＜0．05），且维吾尔族乳腺癌组织 BRCA1基因甲基化与月经状况有关（P ＜0．05）。汉族和维吾尔族患者 BRCA1基因甲基化检出率差异无统计学意义（P ＞0．05）。汉族和维吾尔族患者中甲基化组 BRCA1 mRNA 表达水平均高于未甲基化组，且差异具有统计学意义（P ＜0．05）。结论BRCA1基因甲基化是散发性乳腺癌的重要危险因素，对乳腺癌危险的评估和早期检测具有重要的意义。%Objective To analysis the correction between the methylation level of tumor suppressor gene BRCA1 and clinical pathological features in Uighur and Han nationalities patients with sporadic breast cancer in Xinjiang.Methods From December 2004 to Match 2014,190 cases of fresh tissue were collected as test samples,in which there were 45 Uighur and 45 Han patients′samples with breast infiltrating ductal carcinoma,50 Uighur and 50 Han patients′samples with breast benign lesion .Methylation specific PCR (MSP)technique was used to detect the methylation status of BRCA1 gene in breast cancer tissues and breast benign disease tissues.BRCA1 gene mRNA level was detected by fluorescence quantitative PCR technique.Results The methylation of BRCA1 gene in breast cancer tissues was significantly higher than that in breast benign disease tissues and the difference was statistically significant (P <0.05).The methyl-ation of BRCA1 gene in Han and Uygur patients was related with the histological grade of breast cancer (P<0.05).In addition,the menstrual condition was related to the methylation of BRCA1 gene in Uygur pa-tients (P <0.05).The difference of the relevance ratio of methylation of BRCA1 was not statistically sig-nificant (P >0.05).The expression levels of mRNA in methylation group were higher than that of non methylated group between Uighurs and Han nationality,And the difference was statistically significant (P<0.05).Conclusion Methylation of BRCA1 gene was an important risk factor of sporadic breast cancer and has important implications on the assessment and early detection of breast cancer.