A familiaris adenomatosus polyposis molekularis genetikaja es az eufenikai megelozes lehetosege

Translated title of the contribution: Molecular genetic diagnosis of mutant gene carriers and the euphenic prevention of familial adenomatous polyposis

L. Ritter, M. Tomcsik, E. Czeizel

Research output: Contribution to journalArticle

Abstract

Familial adenomatous polyposis (FAP) with an autosomal dominant inheritance has a particular importance among colorectal cancers. The first step in the development of familial adenomatous polyposis is the mutation of a tumor-suppressor APC gene, localised on the 21. region of the long arm of chromosome 5. The group of familial adenomatous polyposis includes the previously separated familial intestinal polyposis, Gardner-syndrome and most cases of Turcot-syndrome. Different mutations of the large APC gene explain the different clinical manifestations of familial adenomatous polyposis. The identification of the APC gene and/or its proteins can help the early, such as fetal diagnosis and more affective screening. Due to the understanding of the pathogenesis of familial adenomatous polyposis, there may be an euphenic prevention e.g. the longterm use of aspirin, the efficacy of which, is the goal of the European Union's CAPP programme inviting Hungarian familial adenomatous polyposis cases for participation, as well.

Original languageHungarian
Pages (from-to)808-813
Number of pages6
JournalLege Artis Medicinae
Volume7
Issue number12
Publication statusPublished - 1997

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Adenomatous Polyposis Coli
Molecular Biology
APC Genes
Genes
Gardner Syndrome
Chromosomes, Human, Pair 5
Mutation
European Union
Tumor Suppressor Genes
Aspirin
Colorectal Neoplasms

ASJC Scopus subject areas

  • Medicine(all)

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A familiaris adenomatosus polyposis molekularis genetikaja es az eufenikai megelozes lehetosege. / Ritter, L.; Tomcsik, M.; Czeizel, E.

In: Lege Artis Medicinae, Vol. 7, No. 12, 1997, p. 808-813.

Research output: Contribution to journalArticle

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