title: The T/G mutation in exon 8 of hMSH2 gene in the sporadic colon cancer patients.
abstract: The DNA mismatch repair (MMR) system guards against genomic instability, therefore the mutations in the human MMR genes cause the majority of the hereditary nonpolyposis colorectal cancer (HNPCC) and a small percentage of the sporadic colon cancer. hMSH2 is one of MMR genes involved in the correction of mispairing during replication and its mutations are associated with both--microsatellite instability and the hereditary and sporadic colon tumourgenesis. The aim of this study was to analyse the T/G mutation (codon 458) in exon 8 of hMSH2 gene in the sporadic colon cancer cells. We also examined the relationship between the T/G mutation of hMSH2 gene, and the selected prognostic factors such as Dukes' stage, histological grade and lymph node metastasis. We analysed samples of tumour from 75 patients with sporadic colorectal cancers. The mutation in the hMSH2 gene ware determined by the RFLP-PCR. We found T/G mutation in exon 8 of hMSH2 gene in 5 patients (6,7%). There was no statistically significant difference between this mutation and selected clinical parameters. The results of our studies revealed that mutations of hMSH2 gene may lead to development of colorectal cancer. No dependence between the mutation of hMSH2 gene and clinical parameters, suggests that the mutation of hMSH2 gene may have a critical significance for the first steps of carcinogenesis in colon epithelial.
authors.affiliation: Departament of General and Colorectal Surgery, Medical University of Lodz, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Langner
authors.forename: K
authors.initials: K
authors.lastname: Przybyłowska
authors.forename: G
authors.initials: G
authors.lastname: Przemysław
authors.forename: J
authors.initials: J
authors.lastname: Kunierz
authors.forename: B
authors.initials: B
authors.lastname: Smolarz
authors.forename: H
authors.initials: H
authors.lastname: Romanowicz-Makowska
authors.forename: J
authors.initials: J
authors.lastname: Migileski
authors.forename: A
authors.initials: A
authors.lastname: Kulig
authors.forename: A
authors.initials: A
authors.lastname: Dziki
mesh_terms: D000368:Aged; D003110:Colonic Neoplasms / Q000235:genetics*; D053843:DNA Mismatch Repair; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D017354:Point Mutation
chemical_list: C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein