Publication: Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer
Issued Date
2007-01-01
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ISSN
01715216
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2-s2.0-33751509283
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Cancer Research and Clinical Oncology. Vol.133, No.1 (2007), 65-70
Suggested Citation
P. Chaksangchaichot, P. Punyarit, S. Petmitr Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer. Journal of Cancer Research and Clinical Oncology. Vol.133, No.1 (2007), 65-70. doi:10.1007/s00432-006-0147-z Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/24276
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Title
Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer
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Abstract
Purpose: To detect the hMSH2, hMSH6 and hMLH1 DNA mismatch repair gene mutations and microsatellite instability in somatic colorectal cancer. Patients and methods: The mutations of hMSH2, hMSH6, and hMLH1 genes, including microsatellite instability of BAT-26, BAT-40, D2S123, D5S346 and D17S250 were analyzed in 31 patients with colorectal. Results: The results revealed that eight cases (25.8%) harbored mutations in DNA mismatch repair genes. Of these, five novel mutations including I237V in exon 4 of hMSH2, ins T at codon 1196 in exon 7 of hMSH6, and ins G at codon 154 in exon 6, N158H in exon 6, and del A at codon 257 in exon 9 of hMLH1 were identified. Moreover, several intronic polymorphisms, including c-g transversion at IVS-1 nt211 + 9 of hMSH2, del T in poly T track at IVS-6 nt3559-5, ATCT duplicate in IVS-7 nt 3642 + 35 and t-g transversion at IVS-10 nt4080 + 185 of hMSH6 were demonstrated in these patients. In addition, seven cases (22.5%) exhibited microsatellite instability (MSI). Conclusion: These results suggested that the inactivation of DNA mismatch repair genes and microsatellite instability may play a minor role in somatic colorectal cancer development. © 2006 Springer-Verlag.