子宫内膜癌相关基因的生物医学文本分析研究

Biomedical texts of endometrial cancer-related genes

目的:寻找与子宫内膜癌发生、发展相关的关键基因。方法:从医学信息检索平台Coremine Medical中筛选出与子宫内膜癌关系最为密切的几种关键基因,再利用生物医学文本挖掘工具Chilibot对从Pub Med中获取的相关文献摘要进行分析,深入探究关键基因与子宫内膜癌之间的相互关系,并通过UALCAN在线工具分析关键基因的表达水平和甲基化水平。结果:确定了与子宫内膜癌关系最密切的5种关键基因。在子宫内膜癌组织中,MLH1基因的甲基化水平比正常子宫内膜组织的甲基化水平要高(P<0. 001),MLH1基因甲基化的发生导致了DNA错配修复基因的突变,从而促进了子宫内膜癌的发生。与正常子宫内膜组织相比,MSH2基因和PMS2基因在子宫内膜癌组织中表达量较高(P<0. 001),MSH6基因和抑癌基因PTEN在子宫内膜癌组织中的表达均比正常子宫内膜组织表达要低(P<0. 001)。错配修复基因MLH1、MSH2、MSH6以及PMS2的突变,促进了相应修复蛋白的缺失,进而导致了子宫内膜癌的发生、发展。结论:错配修复基因MLH1、MSH2、MSH6、PMS2以及抑癌基因PTEN是子宫内膜癌发生、发展的关键基因。

Objective To identify the key genes related with the occurrence and progression of endometrial cancer( EC).Methods After the key genes closely related with EC were identified from the medical information retrieval tool-Coremine Medical Platform,the abstracts of papers on EC retrieved from PubMed with the text mining tool-Chilbot and the relationship between key genes and EC were analyzed,expression and methylation of the key genes were detected with the online tool-UALCAN. Results Five key genes closely related with EC were identified. The methylation level of MLH1 gene was significantly higher in cancerous endometrial tissues than in normal endometrial tissues( P <0. 001). The methylation of MLH1 gene induced mutation of the DNA mismatch repair gene,which promoted the occurrence of EC. The expression levels of MSH2 and PMS2 genes were significantly higher while those of MSH6 gene and cancer suppression gene-PTEN were significantly lower in cancerous endometrial tissues than in normal endometrial tissues( P<0. 001),which promoted the defect of EC-related genes and induced the occurrence and progression of EC. Conclusion Mismatch repair genes MLH1,MLH2,MSH6,PMS2 and cancer suppression gene-PTEN are the key genes related with the occurrence and progression of EC.