A5046592369- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Multiple and Secondary Primary Cancers
- Digestive system and related health
- RNA Research and Splicing
- Colorectal Cancer Screening and Detection
- Tumors and Oncological Cases
- Soft tissue tumor case studies
- Urologic and reproductive health conditions
- Colorectal Cancer Treatments and Studies
State Scientific Center of Coloproctology
2019-2023
Aim. In this research, we aim to develop a criterion for differentiating MutYH-associated polyposis from sporadic colon polyps. Materials and methods. A search mutations in the MutYH gene was carried out using PCR, electrophoresis direct sequencing methods among following groups of people: 18 patients under 45 years old with more than 100 polyps diagnosed large intestine; 86 over 4–100 polyps; 150 people control group. Results. Mutations were detected 2 having Among polyps, found 10 20 not...
Introduction: Peutz-Jeghers syndrome (PEUTZ-JEGHERS SYNDROME; PJS; OMIM#175200) is hereditary tumor and characterized by the occurrence of hamartomatous polyps gastrointestinal tract, melanocytic pigmentation skin mucous membranes, as well a high predisposition to malignant tumors various locations. Despite fact that clinical features PJS are currently understood, nature variability in phenotypic manifestations disease has not been fully described. Aims: determine patients with depending on...
Background. PeutzJeghers syndrome (PJS) is a rare hereditary characterized by the growth of hamartomatous polyps in gastrointestinal tract, perioral pigmentation and an increased risk malignant neoplasms. The caused pathogenic variant STK11 gene. Aim. To assess clinical picture treatment Russian patients with PJS. Materials methods. A retrospective analysis 30 from 25 families established diagnosis PJS who were Ryzikh State Scientific Center for Coloproctology 2011 to 2021 was carried out....
Familial adenomatous polyposis (FAP) is a hereditary syndrome characterized by the presence of multiple polyps in colon.The main cause disease germline mutation APC gene.Here we report 4 unrelated FAP patients with different large deletions gene detected Multiplex Ligation-dependent Probe Amplification (MLPA) method: deletion exons 7-15, promoters B, A, and 5'-UTR region promoter B (in 2 patients).The was not described literature earlier, so it for first time.In families deletion, could...
Objective: to study the features of CT and MRI diagnostics desmoid fibroids (DF) in familial colon adenomatosis (SATC). Patients methods: included 35 patients with All were examined using computed tomography (CT) magnetic resonance imaging (MRI) intravenous contrast. Localization, size, growth pattern, prevalence DF, contrast intensity MR signal on T2-VI post-contrast T1-VI evaluated. Twenty-five (71.4%) observed dynamics, including during systemic therapy. Results: 21 (60.0 %) patients, a...