癌变·畸变·突变Issue(5)：332-340,346,10.DOI:10.3969/j.issn.1004-616x.2015.05.002
结直肠癌淋巴结转移相关基因标志物的筛选
Screening of genetic markers associated with lymph node metastasis in colorectal cancer
摘要
Abstract
[ABSTRACT]OBJECTIVE:Try to identify single nucleotide polymorphism (SNPs),copy number variation (CNVs) and mRNA expression from the genetic or tumor markers that areassociated with lymph node metastases in colorectal cancer.METHODS:Targeted next-generation sequencing(Illumina Hiseq) was applied to capture SNPs and CNVs in tumor-related candidate genes of tumor tissues and paired normal tissues adjacent to the tumors from 25 colorectal cancer specimens;real time-PCR was used to detect specific mRNA expression of tumor-related candidate genes (VEGFC, CCNA2,IL2,ABCG2,EGF andNFKB1) on chromosome 4 of 39 colorectal cancer patient specimens.RESULTS:The SNPs in SLC28A3,BRCA1,RRM2,PMS2,CDA,EPHX1,RALY,CD33,BCL10,ETV1,MST1R, KMT2B,BCL2,LSM3,TTF1,MAP3K1 genes were significantly correlated with lymphatic metastasis risk (P<0.05). There were no significant differences of the CNVs in theDDR1,CYP21A2,SULT1A1,XRCC2,POU5F1,FLT1 genes between the positive lymph node metastasis group and the negative lymph node metastasis group(P>0.05). Compared with non lymph node metastasis group,mRNA expressions ofEGF andNFKB1 were both down-regulated in the lymph node metastasis group,and the difference was statistically significant(P<0.05).CONCLUSION:SNPs inSLC28A3, BRCA1,RRM2,PMS2,CDA,EPHX1,RALY,CD33, BCL10,ETV1,MST1R,KMT2B,BCL2,LSM3, TTF1,MAP3K1 genes and down-regulated expression ofEGF and NFKB1 might be the potential genetic markers in lymph node metastasis of colorectal cancers. No CNV was found to be associated with lymph node metastasis in colorectal cancer in our study.关键词
单核苷酸多态性/拷贝数变异/mRNA表达量/结直肠癌/淋巴结转移Key words
single nucleotide polymorphism/copy number variation/mRNA expression/colorectal cancer/lymph node metastasis分类
医药卫生引用本文复制引用
姚雨江,谢妮,刘丽桃,李仲航,万丽丽,朱婷..结直肠癌淋巴结转移相关基因标志物的筛选[J].癌变·畸变·突变,2015,(5):332-340,346,10.基金项目
广东省深圳市技术研究计划基础研究项目(JCYJ20120613171430264)；广东省科技计划项目(2014A020212038，2013B021800097) （JCYJ20120613171430264）
