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

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 (MA...

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Veröffentlicht in:	Orphanet journal of rare diseases 2013-04, Vol.8 (1), p.54-54, Article 54
Hauptverfasser:	Torrezan, Giovana Tardin, da Silva, Felipe Cavalcanti Carneiro, Santos, Erika Maria Monteiro, Krepischi, Ana Cristina Victorino, Achatz, Maria Isabel Waddington, Aguiar, Jr, Samuel, Rossi, Benedito Mauro, Carraro, Dirce Maria
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenoma Adenoma - genetics Alleles Brazil Codon Colorectal cancer Colorectal Neoplasms - genetics Comparative Genomic Hybridization Cytogenetics DNA Glycosylases - genetics Female Gene mutations Genes Genes, APC Genetic aspects Genetics Genotype Health aspects Humans Male Medical research Mutation Pedigree Phenotype Polymerase Chain Reaction Rare diseases Risk factors Tumors
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