子宫内膜癌组织BRCA1单核苷酸多态性与临床病理因素相关性分析  

BRCA1single nucleotide polymorphisms in endometrial carcinoma and its relationship with clinical pathology

作　　者：范余娟[1] 孙丹[1] 徐红[1] 蒙玉刚[1] 陈玉梅[2] 

机构地区：[1]广西医科大学第一附属医院妇产科,广西南宁530021 [2]广西壮族自治区妇幼保健院妇产科,广西南宁530003

出　　处：《中华肿瘤防治杂志》2015年第16期1283-1286,共4页Chinese Journal of Cancer Prevention and Treatment

基　　金：广西自然科学基金(桂科字2013GXNSFAA019185)

摘　　要：目的探讨人类乳腺癌易感基因1(breat cancer susceptibility gene 1,BRCA1)在子宫内膜癌组织中单核苷酸多态性(single nucleotide polymorphism,SNP)发生情况,及其与临床病理特征的关系,并分析BRCA1SNP与其蛋白表达的相关性。方法选取广西医科大学第一附属医院2008-03-01-2013-03-01原发性子宫内膜癌49例、子宫内膜不典型增生20例和正常子宫内膜组织28例,采用聚合酶链反应-单链构象多态性分析(PCR-SSCP)法和DNA序列分析法检测各组织中BRCA1基因第2、5、11(外显子11选取2个SNP位点)和20外显子5个SNP位点。结果子宫内膜癌组SNP阳性率为20.41%(10/49),子宫内膜不典型增生组为15.00%(3/20),正常子宫内膜组为0(0/28),差异有统计学意义,χ2=6.450,P=0.040。子宫内膜癌组中,BRCA1基因的SNP阳性率与子宫肌层浸润深度有关,浸润深度>1/2组的SNP阳性率高于浸润深度≤1/2组,χ2=4.313,P=0.038。而与病理分级、临床分期、淋巴结转移和组织病理类型无关,P>0.05。子宫内膜癌组中BRCA1SNP发生情况与BRCA1表达水平呈负相关,r=-0.482,P<0.001。结论BRCA1SNP可能是子宫内膜癌发生发展和BRCA1蛋白表达减少以及子宫肌层浸润深度增加的原因之一。OBJECTIVE This study aimed to investigate the presence of BRCA1 single nucleotide polymorphisms in patients with endometrial cancer and to evaluate the factors affecting the prognosis of Chinese patients with endometrial cancer. METHODS Fresh endometrial tissue was obtained from 97 cases： 49 cases of endometrial cancer, 20 cases endo- metrial atypical hyperplasia and 28 cases normal endometrium. Polymerase chain reaction-single-strand conformation poly- morphism was performed to detect single nucleotide polymorphisms in five BRCA1 exons. Clinicopathologic features were compared between patients with and without the presence of single nucleotide polymorphisms. RESULTS There were significant differences in the presence of single nucleotide polymorphisms among the endometrial cancer, endometrial atyp- ical hyperplasia and normal endometrium groups （X2= 6. 450,P=0. 040）. Spearman correlation analysis showed that the BRCA1 SNP-positive rate and BRCA1 protein expression were negatively correlated （X2 = 4. 313, P = 0. 038）. The BRCA1 SNP-positive rate was associated with muscular infiltration depth （r= 0. 482, P〈0. 001）, no relationship was found with pathology grade, clinical stage, lymph node metastasis and histopathology （P〉 0.05）. CONCLUSIONS BRCA1 SNP might be associated with the development of endometrial cancer, especially with muscular infiltration depth in uterus and it might be relative to low expression of BRCA1 protein.

关 键 词：子宫内膜癌 人类乳腺癌易感基因1 单核苷酸多态性 病理 聚合酶链反应-单链构象多态性分析 

分 类 号：R737.33[医药卫生—肿瘤]