Article
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
Clinical genetics - 1 Sept 2009
Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão de Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão C
Abstract excerpt
Patients presenting familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP) or multiple colorectal adenomas (MCRAs) phenotype are clinically difficult to distinguish. We aimed to genetically characterize 107 clinically well-characterized patients with FAP-like phenotype, and stratified according to the recent guidelines for the clinical management of FAP: FAP, AFAP, MCRA (10-99...
Topics
- Adenoma
- Adenomatous Polyposis Coli
- Adenomatous Polyposis Coli Protein
- Adolescent
- Adult
- Aged
- Alleles
- Cohort Studies
- Colorectal Neoplasms
- DNA Glycosylases
- DNA Mutational Analysis
- Family
- Genetic Testing