机构：[a]Department of Oncology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China内科科室肿瘤内科昆明医科大学附属第一医院[b]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China[c]Chemotherapy Research Center, Yunnan Provincial Tumor Hospital, Kunming Medical University, Kunming, China[d]Department of Gastroenterology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China内科科室消化内科昆明医科大学附属第一医院[e]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China
Colorectal cancer (CRC) is one of the leading causes of death around the world. Its genetic mechanism was intensively investigated in the past decades with findings of a number of canonical oncogenes and tumor-suppressor genes such as APC, KRAS, and TP53. Recent genome-wide association and sequencing studies have identified a series of promising oncogenes including IDH1,IDH2, DNMT3A, and MYD88 in hematologic malignancies. However, whether these genes are involved in CRC remains unknown. In this study, we screened the hotspot mutations of these four genes in 305 CRC samples from Han Chinese by direct sequencing. mRNA expression levels of these genes were quantified by quantitative real-time PCR (RT-qPCR) in paired cancerous and paracancerous tissues. Association analyses between mRNA expression levels and different cancerous stages were performed. Except for one patient harboring IDH1 mutation p.I99M, we identified no previously reported hotspot mutations in colorectal cancer tissues. mRNA expression levels of IDH1, DNMT3A, and MYD88, but not IDH2, were significantly decreased in the cancerous tissues comparing with the paired paracancerous normal tissues. Taken together, the hotspot mutations of IDH1, IDH2, DNMT3A, and MYD88 gene were absent in CRC. Aberrant mRNA expression of IDH1, DNMT3A, and MYD88 gene might be actively involved in the development of CRC. (C) 2014 Elsevier B.V. All rights reserved.
基金：
Chinese Academy of Sciences and Yunnan Province [2009CI119]
第一作者机构：[a]Department of Oncology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China
通讯作者：
通讯机构：[*1]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China.
推荐引用方式(GB/T 7714)：
Li Wen-Liang,Xiao Mei-Sheng,Zhang Deng-Feng,et al.Mutation and expression analysis of the IDH1, IDH2, DNMT3A, and MYD88 genes in colorectal cancer[J].GENE.2014,546(2):263-270.doi:10.1016/j.gene.2014.05.070.
APA：
Li, Wen-Liang,Xiao, Mei-Sheng,Zhang, Deng-Feng,Yu, Dandan,Yang, Run-Xiang...&Yao, Yong-Gang.(2014).Mutation and expression analysis of the IDH1, IDH2, DNMT3A, and MYD88 genes in colorectal cancer.GENE,546,(2)
MLA：
Li, Wen-Liang,et al."Mutation and expression analysis of the IDH1, IDH2, DNMT3A, and MYD88 genes in colorectal cancer".GENE 546..2(2014):263-270
