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Correlation of Genetic Characteristics with Development of Specific Diseases in Patients with Familial Adenomatous Polyposis

Not Applicable
Conditions
Family Adenomatous Polyposis, Colorectal Neoplasms, Gene APC, Mutation, Phenotype, Genotype
C04.588.274
G05.695
G05.365.590
G05.380
Registration Number
RBR-84qkkv
Lead Sponsor
Fundação Pio XII
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Recruitment completed
Sex
Not specified
Target Recruitment
Not specified
Inclusion Criteria

Carriers of Classical Familial Adenomatous Polyposis Syndrome. Carriers of pathogenic germline variants in the APC gene.

Exclusion Criteria

Familiar members tested to the mutation in the APC gene not carrying APC gene-related mutation.
Patients carrying the mutation in the APC gene who are not willing to undergo the protocol of screening tests for colonic and extra-colonic manifestations.

Study & Design

Study Type
Intervention
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod
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