Meng WJ, Wang L, Tian C, Yu YY, Zhou B, Gu J, Xia QJ, Sun XF, Li Y, Wang R, Zheng XL, Zhou ZG. Novel mutations and sequence variants in exons 3-9 of human T Cell Factor-4 gene in sporadic rectal cancer patients stratified by microsatellite instability. World J Gastroenterol 2007; 13(27): 3747-3751 [PMID: 17659738 DOI: 10.3748/wjg.v13.i27.3747]
Corresponding Author of This Article
Zong-Guang Zhou, Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu 610041, Sichuan Province, China. zhou767@21cn.com
Article-Type of This Article
Rapid Communication
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World J Gastroenterol. Jul 21, 2007; 13(27): 3747-3751 Published online Jul 21, 2007. doi: 10.3748/wjg.v13.i27.3747
Novel mutations and sequence variants in exons 3-9 of human T Cell Factor-4 gene in sporadic rectal cancer patients stratified by microsatellite instability
Wen-Jian Meng, Chao Tian, Yong-Yang Yu, Zong-Guang Zhou, Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Ling Wang, Bing Zhou, Jun Gu, Yuan Li, Rong Wang, Xue-Lian Zheng, Zong-Guang Zhou, Division of Digestive Surgery and Organ-Microcirculation, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Qing-Jie Xia, Ophthalmologic Surgery Laboratory, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Qing-Jie Xia, Zong-Guang Zhou, National Key Laboratory of Biotherapy of West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Xiao-Feng Sun, Department of Oncology, Linköping University, Linköping, Sweden
Author contributions: All authors contributed equally to the work.
Supported by the National Natural Science Foundation of China, No. 39925032
Correspondence to: Zong-Guang Zhou, Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu 610041, Sichuan Province, China. zhou767@21cn.com
Telephone: +86-28-85164035 Fax: +86-28-85164035
Received: March 26, 2007 Revised: April 10, 2007 Accepted: April 18, 2007 Published online: July 21, 2007
Abstract
AIM: To establish the role of human T Cell Factor-4 (hTCF-4) gene exons 3-9 mutation status in association with sporadic rectal cancer with microsatellite instability (MSI).
METHODS: Microsatellite markers were genotyped in 93 sporadic rectal cancer patients. Eleven cases were found to be high-frequency MSI (MSI-H). Sequence analysis of the coding region of the exons 3-9 of hTCF-4 gene was carried out for the 11 MSI-H cases and 10 controls (5 microsatellite stability (MSS) cases and 5 cases with normal mucosa). The sequencing and MSI identification were used.
RESULTS: Several novel mutations and variants were revealed. In exon 4, one is a 4-position continuous alteration which caused amino acid change from Q131T and S132I (391insA, 392 G > A, 393 A > G and 395delC) and another nucleotide deletion (395delC) is present in MSI-H cases (5/10 and 4/10, respectively) but completely absent in the controls.
CONCLUSION: Novel mutations in exon 4 of hTCF-4 gene were revealed in this study, which might be of importance in the pathogenesis of sporadic rectal cancer patients with MSI-H.
