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.

@article{Filipe2009APCOM,
  title={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.},
  author={Bruno Filipe and C{\'e}lia Baltazar and Cristina Albuquerque and Sofia Fragoso and Pedro Lage and In{\^e}s Vitoriano and Susana M{\~a}o de Ferro and Isabel Claro and Pedro Rodrigues and Pedro Fidalgo and Paolo Chaves and Mariana Cravo and Carlos Nobre Leit{\~a}o},
  journal={Clinical genetics},
  year={2009},
  volume={76 3},
  pages={242-55}
}
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 colorectal adenomas) without family history of colorectal cancer or few adenomas (FH… CONTINUE READING

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