Official Title
Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis
Brief Title
MUTYH-associated Polyposis
Protocol ID
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.
Study Period
-
Enrollment Count
25 participants
Eligibility Criteria
Inclusion Criteria:
1. patients with multiple colon polyps (n polyps = 4+)
2. patient consent to participate in the study
Exclusion Criteria:
1. presence of mutations in the APC gene
2. patient's refusal to participate in the study
Filters
MutYH-associated Polyposis
NA
UNKNOWN
ADULT
OLDER_ADULT