本文選題：子宮內(nèi)膜癌 + 人類乳腺癌易感基因��； 參考：《中華腫瘤防治雜志》2015年16期

【摘要】：目的探討人類乳腺癌易感基因1(breat cancer susceptibility gene 1,BRCA1)在子宮內(nèi)膜癌組織中單核苷酸多態(tài)性(single nucleotide polymorphism,SNP)發(fā)生情況,及其與臨床病理特征的關(guān)系,并分析BRCA1SNP與其蛋白表達(dá)的相關(guān)性。方法選取廣西醫(yī)科大學(xué)第一附屬醫(yī)院2008-03-01-2013-03-01原發(fā)性子宮內(nèi)膜癌49例、子宮內(nèi)膜不典型增生20例和正常子宮內(nèi)膜組織28例,采用聚合酶鏈反應(yīng)-單鏈構(gòu)象多態(tài)性分析(PCR-SSCP)法和DNA序列分析法檢測(cè)各組織中BRCA1基因第2、5、11(外顯子11選取2個(gè)SNP位點(diǎn))和20外顯子5個(gè)SNP位點(diǎn)。結(jié)果子宮內(nèi)膜癌組SNP陽性率為20.41%(10/49),子宮內(nèi)膜不典型增生組為15.00%(3/20),正常子宮內(nèi)膜組為0(0/28),差異有統(tǒng)計(jì)學(xué)意義,χ2=6.450,P=0.040。子宮內(nèi)膜癌組中,BRCA1基因的SNP陽性率與子宮肌層浸潤深度有關(guān),浸潤深度1/2組的SNP陽性率高于浸潤深度≤1/2組,χ2=4.313,P=0.038。而與病理分級(jí)、臨床分期、淋巴結(jié)轉(zhuǎn)移和組織病理類型無關(guān),P0.05。子宮內(nèi)膜癌組中BRCA1SNP發(fā)生情況與BRCA1表達(dá)水平呈負(fù)相關(guān),r=-0.482,P0.001。結(jié)論BRCA1SNP可能是子宮內(nèi)膜癌發(fā)生發(fā)展和BRCA1蛋白表達(dá)減少以及子宮肌層浸潤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，

本文編號(hào)：1854026