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primary topic: Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions

Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions
type: AcademicArticle
type: Article
abstract: Background: Desmoid tumors are neoplastic proliferations of connective tissues. The mutation status of the gene coding for catenin (cadherin-associated protein) beta 1 (CTNNB1) and trisomy 8 on the chromosomal level have been described to have prognostic relevance. Patients and Methods: In order to elucidate new molecular mechanisms underlying these tumors, we carried out a molecular analysis with a genome-wide human high-density single-nucleotide polymorphism (SNP) array, in 9 patients. Results: Single samples showed numerical aberrations on chromosomes (Chrs) 20 and 6 with either trisomy 20 or monosomy 6. No trisomy 8 could be detected. Recurrent heterozygous deletions were found in Chr 5q (including the APC gene locus, n = 3) and Chr 8p23 (n = 4, containing coding regions for the potential tumor suppressor gene CSMD1). This novel deletion in 8p23 showed an association with local recurrence. In addition, structural chromosomal changes (gain of Chrs 8 and 20) were found in a minority of cases. Conclusion: The genomic alteration affecting the candidate gene CSMD1 could be important in the development of desmoid tumors.
date: 2012
volume: 35
issue: 11
is part of: Onkologie
author list: authors
type: EPrint
type: ArticleEPrint
is part of: repository
has document: Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (PDF)
has document: Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (Other)
subject: 610 Medizin

Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (PDF)
type: Document
has file: ONK2012035011684.pdf
has part: ONK2012035011684.pdf

S. Karger AG
type: Organization

Onkologie
type: Collection
issn: 0378584X

Daniel Nowak
type: Person
given name: Daniel
family name: Nowak

Ralf-Dieter Hofheinz
type: Person
given name: Ralf-Dieter
family name: Hofheinz

Peter Hohenberger
type: Person
given name: Peter
family name: Hohenberger

Wolf-Karsten Hofmann
type: Person
given name: Wolf-Karsten
family name: Hofmann

Philipp Erben
type: Person
given name: Philipp
family name: Erben

Bernd Kasper
type: Person
given name: Bernd
family name: Kasper

Philipp Ströbel
type: Person
given name: Philipp
family name: Ströbel

Christian Sauer
type: Person
given name: Christian
family name: Sauer

Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (Other)
type: Document
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Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (Other)
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Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (Other)
type: Document
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Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (Other)
type: Document
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Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (Other)
type: Document
is version of: Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions (PDF)
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primary topic: Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions

610 Medizin
type: Concept
preferred label: 610 Medical sciences Medicine @en