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Article

Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.

Genetic testing and molecular biomarkers - 1 Dec 2016

Marabelli Monica, Molinaro Valeria, Abou Khouzam Raefa, Berrino Enrico, Panero Mara, Balsamo Antonella, Venesio Tiziana, Ranzani Guglielmina Nadia

Abstract excerpt

AIMS: Colorectal adenomatous polyposis entailing cancer predisposition is caused by constitutional mutations in different genes. APC is associated with the familial adenomatous polyposis (FAP/AFAP) and MUTYH with the MUTYH-associated polyposis (MAP), while POLE and POLD1 mutations cause the polymerase proofreading-associated polyposis (PPAP). METHODS: We screened for mutations in patients with multiple...

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Identifiers

PMID: 27705013
DOI: 10.1089/gtmb.2016.0198

Genes

MUTYH
APC
FAP
POLD1
POLE

Variants

Provenance

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