CLINICAL AND GENETIC CHARACTERISTICS OF RUSSIAN PATIENTS WITH LYNCH SYNDROME

DOI: https://doi.org/None

A.S. Tsukanov (1), N.I. Pospekhova (1), V.P. Shubin (1), I.Yu., Sachkov (1), S.I. Achkasov (1), E.G. Rybakov (1), S.A. Frolov (1), V.N. Kashnikov 1), Yu.A. Shelygin (1,2) 1 -State Scientific Center of Coloproctology, Salyama Adilya str., 2, Moscow, Russian Federation, 123423; 2 -Department of Coloproctology, Russian Academy of Postgraduate Education, Salyama Adilya str., 2, Moscow, Russian Federation, 123423

Aim. Lynch Syndrome, which is caused by a defect in one of the mismatch repair (MMR) genes, is the most common among all hereditary colorectal cancer syndromes. Patients with Lynch syndrome in different populations are inherent in both genetic and clinical features. Currently, no documented clinical and genetic characteristics for patients of the Russian sample are published. The elimination of this gap was the aim of the present research. Materials and methods. Material for the study was the clinical data about 10 patients with genetically confirmed Lynch syndrome. In addition, molecular genetic study was conducted in 6 out of their blood relatives. Results. Following characteristics of these patients were studied: frequency of mutations in a particular gene, carcinoma site, TNM stage, pathology, multiple tumors, surgery and family history. Conclusion. As result of the study, clinical peculiarities of Russian patients with Lynch syndrome were found. Genetic testing in relevant group of individuals should be recommended.
Keywords: 
Lynch syndrome, colon cancer, germline mutations
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