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Article

Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

Orphanet journal of rare diseases - 5 Apr 2013

Torrezan Giovana Tardin, da Silva Felipe Cavalcanti Carneiro, Santos Erika Maria Monteiro, Krepischi Ana Cristina Victorino, Achatz Maria Isabel Waddington, Aguiar Samuel, Rossi Benedito Mauro, Carraro Dirce Maria

Abstract excerpt

BACKGROUND: Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/AFAP), while patients carrying biallelic MUTYH mutations exhibit MUTYH-associated polyposis (MAP). The spectrum of mutations as well as the genotype-phenotype correlations in polyposis syndromes...

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Source

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Identifiers

PMID: 23561487
DOI: 10.1186/1750-1172-8-54
PMCID: PMC3623842

Genes

MUTYH
APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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