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

نویسندگان

چکیده

Aim: to reveal hereditary mutations in patients with adenomatous polyps of the gastrointestinal tract. Patients and methods: a retrospective cohort study included 8 tract (ranging from 4 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 found have pathogenic APC (3 > 100 polyps), POLE (1 patient < 10 MutYH 2 28 polyps; 1 monoallelic mutation combination gene number 100). Conclusion: probability detecting increases an increase patient.

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ژورنال

عنوان ژورنال: Koloproktologiâ

سال: 2022

ISSN: ['2073-7556', '2686-7303']

DOI: https://doi.org/10.33878/2073-7556-2022-21-2-58-63