MUTYH-associated Polyposis (MAP)

State Scientific Centre of Coloproctology, Russian Federation

Status: Unknown

Conditions: MutYH-associated Polyposis

Treatments: Genetic: Sanger sequencing method

Study type: Interventional

Funder types: Other

Identifiers

NCT03847532

119

Details and patient eligibility

About

This is single-center, prospective, non-randomized study

Full 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.

Enrollment: 25 estimated patients

Sex: All

Ages: 18 to 71 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)

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25 participants in 3 patient groups

Patients with mutations in the MutYH-gene

Other group

Description:

Patients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene

Treatment:

Genetic: Sanger sequencing method

Patients with multiple colon polyps

Other group

Description:

Number of polyps from 4+

Treatment:

Genetic: Sanger sequencing method

Control sample

Other group

Description:

Patients who did not have colon polyps

Treatment:

Genetic: Sanger sequencing method