Copyright
©2007 Baishideng Publishing Group Co., Limited. All rights reserved.
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, Ling Wang, Chao Tian, Yong-Yang Yu, Bing Zhou, Jun Gu, Qing-Jie Xia, Xiao-Feng Sun, Yuan Li, Rong Wang, Xue-Lian Zheng, Zong-Guang Zhou
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
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.
