Resumo

MONTENEGRO MEDINA, Jenny et al. Polimorphism 399 C>T in exon 3 of the MSH2 gene in individuals with colorectal cancer. Rev Col Gastroenterol [online]. 2006, vol.21, n.2, pp.91-96. ISSN 0120-9957.

Introduction Colorrectal cancer (CCR) is one of the most common neoplasias in our country, occupying the fourth place after cervix, breast and stomach cancers; being diagnosed most of the cases in advanced stages. In Antioquia the incidence of young people (less of 40 years) affected by this disease is 20,9%, being this rate the highest and doubling the one reported world-wide for this group of age. Aims Molecular characterization of a novel polymorphism 399 C >T in MSH2 exon 3 in sporadic and hereditary colorectal cancer patients. Patients and methods We have analyzed 6 patients with hereditary non polypoid colorectal cancer (HNPCC), 6 sporadic colorectal cancer patients and 6 healthy individuals. Genomic DNA was taken from each patient’s peripheral blood lymphocytes. All samples were amplified by PCR and its products were directly sequenced in a genetic analyzer. Results In all colorectal cancer and healthy individuals evaluated a novel polymorphism 399C>T in the MSH2 gene was detected. Conclusions The identified molecular variant does not change the protein sequence. Therefore, this variant could be considered a neutral mutation, still not identified in other populations. The relationship between 399C>T polymorphism and colorectal cancer is unknown. Further analysis is required in order to determine the role of this polymorphism in Colombian CRC families.

Palavras-chave : Colorectal cancer; MSH2 gene; Lynch Syndrome (HNPCC); Polimorphism; Mismatch repair genes.

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