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.
Lynch syndrome, colon cancer, germline mutations

Список литературы: 
  1. Davydov M.I., Aksel` E.M. Statistika zlokachestvennyh novobrazovaniy v Rossii i stranah SNG v 2009 g. VESTNIK RONC im. N.N. Blohina RAMN. 2011; T. 22; 3 (85): 17. [Davydov M. I., Aksel’ E. M. Statistics of malignant tumors in Russia and CIS countries in 2009. VESTNIK RONC im. N.N. Blohina RAMN. 2011; Vol. 22; 3 (85): 17 (in Russian)]
  2. Kastrinos F., Syngal S. Inherited Colorectal Cancer Syndromes. Cancer J. 2011; 17 (6): 405–15.
  3. Shelygin Yu.A., Kashnikov V.N., Frolov S.A., Kuz`minov A.M., Sachkov I.Yu., Porhaeva A.A., Zavadskiy S.V., Shubin V.P., Pospehova N.I., Cukanov A.S. Molekulyarno-geneticheskoe issledovanie nasledstvennoy predraspolozhennosti k raznym formam polipoza tolstoy kishki. Koloproktologiya. 2013; 1 (43): 9–14. [Shelygin Yu.A., Kashnikov V.N., Frolov S.A., Kuzminov A.M., Sachkov I.Yu., Porkhaeva A.A., Zavadskiy S.V., Shubin V.P., Pospekhova N.I., Tsukanov A.S. Molecular-genetic investigation of hereditary predisposition to different forms of large intestine`s polyposis. Coloproctologia. 2013; 1 (43): 9–14 (in Russian)]
  4. Van Lier M.G., Wagner A., Mathus-Vliegen E.M., Kuipers E.J., Steyerberg E.W., van Leerdam M.E. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am. J. Gastroenterol. 2010; 105 (6): 1258–64.
  5. Heald B., Mester J., Rybicki L., Orloff M.S., Burke C.A., Eng C. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology. 2010; 139 (6): 1927–33.
  6. Jasperson K.W., Tuohy T.M., Neklason D.W., Burt R.W. Hereditary and Familial Colon Cancer. Gastroenterology. 2010; 138 (6): 2044–58.
  7. Moreira L., Balaguer F., Lindor N., de la Chapelle A., Hampel H., Aaltonen L.A., Hopper J.L., le Marchand L., Gallinger S., Newcomb P.A., Haile R., Thibodeau S.N., Gunawardena S., Jenkins M.A., Buchanan D.D., Potter J.D., Baron J.A., Ahnen D.J., Moreno V., Andreu M., Ponz de Leon M., Rustgi A.K., Castells A; EPICOLON Consortium. Identification of Lynch Syndrome Among Patients With Colorectal Cancer. JAMA. 2012; 308 (15): 1555–65.
  8. Vasen H.F., Möslein G., Alonso A., Bernstein I., Bertario L., Blanco I., Burn J., Capella G., Engel C., Frayling I., Friedl W., Hes F.J., Hodgson S., Mecklin J.P., Møller P., Nagengast F., Parc Y., Renkonen-Sinisalo L., Sampson J.R., Stormorken A., Wijnen J. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J. Med. Genet. 2007; 44 (6): 353–62.
  9. Lynch H.T., Lynch P.M., Lanspa S.J., Snyder C.L., Lynch J.F., Boland C.R. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin. Genet. 2009; 76 (1): 1–18.
  10. . Vasen H.F., Möslein G., Alonso A., Aretz S., Bernstein I., Bertario L., Blanco I., Bulow S., Burn J., Capella G., Colas C., Engel C., Frayling I., Rahner N., Hes F.J., Hodgson S., Mecklin J.P., Møller P., Myrhøj T., Nagengast F.M., Parc Y., Ponz de Leon M., Renkonen-Sinisalo L., Sampson J.R., Stormorken A., Tejpar S., Thomas H.J., Wijnen J., Lubinski J., Järvinen H., Claes E., Heinimann K., Karagiannis J.A., Lindblom A., Dove-Edwin I., Müller H. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer. 2010; 9 (2): 109–15.
  11. Peltomaki P., Vasen H. Mutations associated with HNPCC predisposition. Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers. 2004; 20 (4–5): 269–76.
  12. . Rahner N., Steinke V., Schlegelberger B., Olschwang S., Eisinger F., Hutter P. Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2). Eur. J. Hum. Genet. 2010; 18 (9).
  13. . Umar A., Boland C.R., Terdiman J.P., Syngal S., de la Chapelle A., Rüschoff J., Fishel R., Lindor N.M., Burgart L.J., Hamelin R., Hamilton S.R., Hiatt R.A., Jass J., Lindblom A., Lynch H.T., Peltomaki P., Ramsey S.D., Rodriguez-Bigas M.A., Vasen H.F., Hawk E.T., Barrett J.C., Freedman A.N., Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J. Natl. Cancer. Inst. 2004; 96 (4): 261–8.
  14. Vasen H.F., Mecklin J.P., Khan P.M., Lynch H.T. International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum. 1991; 34 (5): 424–5.
  15. Vasen H.F., Watson P., Mecklin J.P., Lynch H.T. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999; 116 (6): 1453–6.
  16. Pérez-Cabornero L., Infante M., Velasco E., Lastra E., Miner C., Durán M. Genotype–phenotype correlation in MMR mutation-positive families with Lynch syndrome. Int. J. Colorectal Dis. 2013; 28 (9): 1195–201.
  17. Thiel A., Heinonen M., Kantonen J., Gylling A., Lahtinen L., Korhonen M., Kytölä S., Mecklin J.P., Orpana A., Peltomäki P., Ristimäki A. BRAF mutation in sporadic colorectal cancer and Lynch syndrome. Virchows Arch. 2013; 463 (5): 613–21.
  18. South C.D., Hampel H., Comeras I., Westman J.A., Frankel W.L., de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J. Natl. Cancer. Inst. 2008; 100 (4): 277–81.