MUTYH-associated Polyposis
Not Applicable
- Conditions
- MutYH-associated Polyposis
- Interventions
- Genetic: Sanger sequencing method
- Registration Number
- NCT03847532
- Lead Sponsor
- State Scientific Centre of Coloproctology, Russian Federation
- Brief Summary
This is single-center, prospective, non-randomized study
- Detailed Description
The study will include patients with more than 3 polyps, without mutations in the APC gene. Using molecular genetic research methods (polymerase chain reaction, SSCP, sequencing by Sanger method) mutations in the MutYH gene will be studied. For all patients with mutations in the MutYH gene, an optimal diagnostic algorithm will be developed. The significance of monoallelic mutations in the MutYH gene will be determined. Clinical monitoring will be defined. Optimal amount of surgical intervention will be suggested.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 25
Inclusion Criteria
- patients with multiple colon polyps (n polyps = 4+)
- patient consent to participate in the study
Exclusion Criteria
- presence of mutations in the APC gene
- patient's refusal to participate in the study
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Control sample Sanger sequencing method Patients who did not have colon polyps Patients with multiple colon polyps Sanger sequencing method Number of polyps from 4+ Patients with mutations in the MutYH-gene Sanger sequencing method Patients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene
- Primary Outcome Measures
Name Time Method Patients with germIine mutations in MutYH from 0 to 6 months number of patients with monoallelic and biallelic mutations in the MutYH-gene
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
State Scientific Centre of Coloproctology
🇷🇺Moscow, Russian Federation