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Lynch syndrome is a hereditary colorectal cancer syndrome caused by mutations in the DNA repair system genes. We studied the clinical and genetic characteristics of 27 Russian patients with Lynch syndrome. Germinal mutations were found in genes MLH1 (14 patients), MSH2 (11 patients) and MSH6 (2 patients). Eight mutations have not been described previously. The clinical features of this group of patients consisted of early average age of the first cancer - 36.7 years, predominant (72.4%) damage of the left colon, occurs most (70.6%) metachronous tumors for 10 years after the previous surgery, high (53.6%) frequency of poorly differentiated adenocarcinomas. The described genetic and phenotypic pattern indicates a need for more targeted selection of patients with suspected Lynch syndrome as well as the feasibility of the development of clinical guidelines for monitoring and surgical treatment exactly Russian patients.References
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