Молекулярно-генетическая диагностика наследственного неполипозного рака толстой кишки

Résumé fourni par la source

Hereditary non-polyposis colorectal cancer (HNPCC) contributes to 2-3 % of colorectal cancer incidence and is caused by mutations in the DNA mismatch genes. We considered 672 clinical records for colorectal cancer patients, who underwent surgical treatment in the N.N. Petrov Institute of Oncology (St.-Petersburg, Russia). 16 cases with single or multiple clinical features of the HNPCC were selected for the microsatellite instability (MSI) testing by ВАТ26, ВАТ25 and ВАТ40 monucleotide markers, and 10 MSI+ tumors were revealed. Normal tissues from these patients were analyzed by high resolution melting analysis (HRMA) and DNA sequencing for the presence of mutations in MLH1 and MSH2 genes. Potentially pathogenic mutations were identified in 5 out of these patients.

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