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

发布时间：2018-05-06 21:43

  本文选题：子宫内膜癌 + 人类乳腺癌易感基因　； 参考：《中华肿瘤防治杂志》2015年16期

【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,P0.05。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,P0.001。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。
[Abstract]:Objective to investigate the occurrence of single nucleotide polymorphisms (SNPs) and its relationship with clinicopathological features of human breast cancer susceptibility gene (1(breat cancer susceptibility gene 1 / BRCA1) in endometrial carcinoma, and to analyze the correlation between BRCA1SNP and its protein expression. Methods 49 cases of primary endometrial carcinoma, 20 cases of endometrial atypical hyperplasia and 28 cases of normal endometrial tissue were selected from the first affiliated Hospital of Guangxi Medical University 2008-03-01-2013-03-01. Polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP) and DNA sequence analysis were used to detect two SNP loci and five SNP loci in exon 20 of BRCA1 gene. Results the positive rate of SNP in endometrial carcinoma group was 20.41 / 10 / 49, that in endometrial atypical hyperplasia group was 15.00 / 20, and that in normal endometrium group was 0 / 28, the difference was statistically significant (蠂 ~ 2 = 6.450). The positive rate of SNP in endometrial carcinoma group was related to the depth of myometrium invasion. The positive rate of SNP in the group of 1 / 2 depth of invasion was higher than that in group 鈮，

本文编号：1854026