Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary

J. Papp, Marietta Eva Kovacs, Zoltan Matrai, Enikő Orosz, M. Kásler, Anne Lise Børresen-Dale, E. Oláh

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome with considerable genetic and phenotypic heterogeneity, defined by the development of multiple adenomas throughout the colorectum. FAP is caused either by monoallelic mutations in the adenomatous polyposis coli gene APC, or by biallelic germline mutations of MUTYH, this latter usually presenting with milder phenotype. The aim of the present study was to characterize the genotype and phenotype of Hungarian FAP patients. Mutation screening of 87 unrelated probands from FAP families (21 of them presented as the attenuated variant of the disease, showing

Original languageEnglish
JournalFamilial Cancer
DOIs
Publication statusAccepted/In press - Oct 7 2015

Fingerprint

Adenomatous Polyposis Coli
Hungary
Mutation
APC Genes
Phenotype
Genetic Heterogeneity
Germ-Line Mutation
Adenoma
Colorectal Neoplasms
Genotype

Keywords

  • APC
  • Colorectal cancer
  • Familial adenomatous polyposis
  • Genotype–phenotype correlations
  • Germline mutations
  • MUTYH

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Oncology
  • Genetics(clinical)

Cite this

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. / Papp, J.; Kovacs, Marietta Eva; Matrai, Zoltan; Orosz, Enikő; Kásler, M.; Børresen-Dale, Anne Lise; Oláh, E.

In: Familial Cancer, 07.10.2015.

Research output: Contribution to journalArticle

Papp, J. ; Kovacs, Marietta Eva ; Matrai, Zoltan ; Orosz, Enikő ; Kásler, M. ; Børresen-Dale, Anne Lise ; Oláh, E. / Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. In: Familial Cancer. 2015.
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