350 rub
Journal №1 for 2014 г.
Article in number:
Lynch syndrome among russian colorectal cancer patients with family history
Keywords: colon cancer Lynch syndrome germline mutation MLH1/MSH2 genes
Authors:
N.I. Pospekhova - D.Sc. (Biol.), Head of Genetic Laboratory, State Scietific Centr of Coloproctology, Moscow
V.P. Shubin - Ph.D., senior researcher of Genetic Laboratory, State Scietific Centr of Coloproctology, Moscow
S.I. Achkasov - MD., Professor, Head of Oncology Department of colonsurgery, State Scietific Centr of Coloproctology, Moscow
V.N. Kashnikov - MD., deputy Director, State Scietific Centr of Coloproctology, Moscow
S.A. Frolov - MD, deputy Director, State Scietific Centr of Coloproctology, Moscow
A.S. Tsukanov - Ph.D. (Med.), Head of Genetic Department, State Scientific Center of Coloproctology, Moscow
Y.A. Shelygin - MD., Professor, Head of State Scientific Center of Coloproctology, Moscow
Abstract:
Lynch syndrome is a hereditary disease with high risk of colon cancer, caused by germline mutation, most in MLH1 and MSH2 genes. Mutation testing was carried out among Russian colorectal cancer patients with family history or multiple primary colon cancer up to 50 years. DNA-diagnostics was performed using the following techniques: polymerase chain reaction, conformation-sensitive electrophoresis, sequencing. Among 47 patients with colorectal cancer 9 mutation carriers were identified. In Amsterdam-positive families, the mutation was found in 50% (6 mutations of 12). Eight of the nine mutations were detected in the gene MLH1, and one was detected in the gene MSH2. Two of the nine mutations were described for first time.
Pages: 59-64
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