Molecular-genetic profiling of patients with adenomatous polyps of the gastrointestinal tract

Abstract

   Aim: to reveal hereditary mutations in patients with adenomatous polyps of the gastrointestinal tract.   Patients and methods: a retrospective cohort study included 8 patients with adenomatous polyps of the gastrointestinal tract (ranging from 4 to several hundred). The APC, AXIN2, BMPR1A, BRCA2, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MutYH, NTHL1, PMS2, POLD1, POLE, SMAD4, STK11 genes were studied using new generation sequencing.   Results: five patients were found to have pathogenic mutations in the genes APC (3 patients with > 100 polyps), POLE (1 patient with < 10 polyps), MutYH (1 patient with 2 mutations with > 28 polyps; 1 patient with monoallelic mutation in combination with a mutation in the APC gene with a number of polyps > 100).   Conclusion: the probability of detecting a pathogenic mutation increases with an increase in the number of polyps in a patient.