宁夏回族乳腺癌BRCA1基因突变与ER、PR、CerbB-2表达的关系  

Relationship between the Mutation of BRCA1 Gene and the Expression of ER,PR and CerbB-2 in Hui Ethnic Patients with Breast Cancer in Ningxia

作　　者：王景[1] 陈耀平[1] 康毓芝[2] 杨宝珍[1] 

机构地区：[1]宁夏医科大学总医院,银川750004 [2]宁夏医科大学,银川750004

出　　处：《宁夏医科大学学报》2011年第12期1135-1137,共3页Journal of Ningxia Medical University

基　　金：宁夏科技攻关项目(2009)

摘　　要：目的研究宁夏地区回族散发性乳腺癌组织BRCA1(breast cancer susceptibility gene1)基因突变情况,并分析其与ER、PR和CerbB-2表达的关系。方法取60例回族乳腺癌石蜡包埋组织标本为实验组,15例回族乳腺良性病变纤维腺病及纤维腺瘤非癌组织为对照组。运用PCR和DNA直接序列测定法检测所有标本BRCA1基因部分外显子突变情况。回顾性分析60例乳腺癌患者雌激素受体ER、孕激素受体PR和癌基因C-erB-2表达情况。结果 60例回族乳腺癌中BRCA1基因发现10例突变;有5例三阴乳腺癌,其中突变患者中有3例三阴乳腺癌,其比例为30%(3/10),非突变乳腺癌患者为4%(2/50),差异有统计学意义(χ2=4.364,P=0.037);乳腺癌患者ER和PR阳性表达率与淋巴结转移率呈负相关,差异有统计学意义(χ2=5.735,P<0.05;χ2=5.984,P<0.05)。对照组未检出突变。结论 BRCA1基因突变在宁夏回族乳腺癌发生密切相关,免疫组化指标ER、PR和C-erbB-2对检测乳腺癌治疗方案的制定和预后评估有重要临床意义。Objective To explone the relationship between the mutation of the BRCA1 gene and the expression of ER,PR and CerbB-2 in sporadic Hui patients with breast cancer in Ningxia.Methods By using polymerase chain reaction（PCR） and DNA direct sequencing,paraffin imbedding and frozen tissues were obtained from 60 Hui female patients with breast caner and 15 controls with benign breast diseases.The expression of ER,PR and C-erbB-2 in breast cancer were analyzed retrospectively.Results 10 cases（16.67%） 60 cases with breast caner were found mutation on BRCA1.No mutation was identified in control group.The frequency of triple negative breast cancer（estrogen receptor,progesterone receptor and human epidermal growth factor receptor negative） in patients with BRCA1 mutation was 30%（3/10）,which was higher than those with no BRCA1 mutation 4%,（χ2=4.364,P=0.037）.There was negative correlation between the expression of ER and PR with lymph node status（χ2=5.735,P〈0.05;χ2=5.984,P〈0.05）.Conclusion The mutation of BRCA1 gene were involved in carcinogensis of breast cancer.The expression of ER,PR,and C-erbB-2 has important clinical significance in treating and prognosis of breast cancer.

关 键 词：乳腺癌 BRCA1基因 突变 测序法 免疫组化 

分 类 号：R737.9[医药卫生—肿瘤]