【摘要】 目的:探讨广西地区散发性乳腺癌BRCA1基因的突变情况,及其与乳腺癌的临床、组织病理特征。方法:采用PCR联合基因直接测序法检测广西地区235例乳腺癌患者(包括155例汉族及80例壮族乳腺癌患者)BRCA1基因的突变情况,同时采用免疫组化方法检测乳腺癌组织中ER、PR及CerbB-2的表达情况。结果:①235例乳腺癌患者BRCA1突变率为8.5%(20/235);其中汉族与壮族乳腺癌患者BRCA1突变率分别为7.1%(11/155)、11.3%(9/80),两者比较差异无统计学意义(χ2=1.169,P=0.280)。②20例BRCA1突变乳腺癌中CerbB-2阴性表达率为65.0%,三阴性乳腺癌(TNBC)检出率为35.0%;而无BRCA1突变乳腺癌中CerbB-2阴性表达率为30.0%,TNBC检出率为14.8%,两组比较CerbB-2阴性表达率及TNBC检出率差异有统计学意义(χ2=10.031,P=0.002;χ2=4.018,P=0.045)。结论:广西地区散发性乳腺癌BRCA1基因突变率相对较低,汉族与壮族乳腺癌患者BRCA1突变率无明显差异;BRCA1突变乳腺癌CerbB-2阴性表达率高,与三阴性乳腺癌关系密切,提示预后可能较差。更多还原

【Abstract】 Objective:To investigate the prevalence of BRCA1gene mutations among sporadic breast carcinoma patients in Guangxi and to discuss the clinical and histopathological characteristics of BRCA1gene mutation-associated breast carcinomas.Methods:The BRCA1gene mutations in 235breast carcinoma cases(including 155Han and 80Zhuang cases)were detected by PCR-DNA sequencing and the expression levels of ER,PR and CerbB-2were detected with immunohistochemistry.Results:The prevalence of BRCA1gene mutation of 235cases was 8.5%(20/235).There was no significant difference in prevalence of BRCA1gene mutation between Han(7.1%)and Zhuang cases(11.3%,χ2=1.169,P =0.280).Among20cases with BRCA1gene mutations,the negative expression rate of CerbB-2and the detection rate of triple negative breast cancer(TNBC)were 65.0% and 35.0%,respectively while those of cases without BRCA1mutation were 30.0%and 14.8%,respectively.There were significant differences in negative expression rate of CerbB-2and detection rate of TNBC among cases with and without BRCA1mutation(χ2=10.031,P =0.002;χ2=4.018,P =0.045).Conclusion:The prevalence of BRCA1gene mutation among sporadic breast carcinoma patients in Guangxi is relatively lower and there was no significant difference in the prevalence of BRCA1gene mutation between Han and Zhuang cases.BRCA1gene mutation-associated breast carcinoma has higher negative expression rate of CerbB-2and related closely to TNBC,which hints bad prognosis.更多还原