N84: Mutations In MutYH Gene Among Russian Patients With Colorectal Polyps

Y. A. Shelygin, V. N. Kashnikov, A. M. Kuzminov, M. K. Toboeva, D. Y. Pikunov, V. P. Shubin, A. Tsukanov

State Scientific Center of Coloproctology

 

Aim: MutYH-associated polyposis is one of the important inherited colorectal cancer syndromes. It is caused by germline mutations in the MutYH gene. Biallelic MutYH mutations are the genetic reason of an autosomal recessive mode of inheritance but we also observed risk of developing polyposis in monoallelic MutYH gene mutation carriers of some populations. The aim of this investigation was to study frequency of germline mutations in MutYH gene among Russian patients with different number of colorectal polyps

Method: Germline mutations in MutYH gene were detected by PCR, SSCP, Sanger sequencing and NGS among 19 patients with 100 and more colorectal polyps; 93 patients with 4-99 polyps and 150 healthy controls

Results: We found 11 germline mutations (8 biallelic and 3 monoallelic) in MutYH gene among 93 patients with 4-100 polyps and 2 mutations (1 biallelic and 1 heterozygous) in 19 patients with 100 and more colorectal polyps. We don’t found heterozygous mutations among 150 healthy controls

Conclusion: Frequency of germline mutations in MutYH gene among Russian patients with 4-99 and more than 100 colorectal polyps was 11,8% and 10,5% respectively

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