Absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.

A common and histologically well defined subtype of glioma are the oligodendroglial brain tumors. Approximately 70% of all oligodendrogliomas have a combined loss of the entire 1p and 19q chromosomal arms. This remarkably high frequency suggests that the remaining arms harbor yet to be identified tu...

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Autores principales: Linda B Bralten, Stephan Nouwens, Christel Kockx, Lale Erdem, Casper C Hoogenraad, Johan M Kros, Michael J Moorhouse, Peter A Sillevis Smitt, Peter van der Spek, Wilfred van Ijcken, Andrew Stubbs, Pim J French
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Publicado: Public Library of Science (PLoS) 2011
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Acceso en línea:https://doaj.org/article/e99b8474a2a34603829260532f3abc87
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spelling oai:doaj.org-article:e99b8474a2a34603829260532f3abc872021-11-18T06:50:36ZAbsence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.1932-620310.1371/journal.pone.0022000https://doaj.org/article/e99b8474a2a34603829260532f3abc872011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21760942/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203A common and histologically well defined subtype of glioma are the oligodendroglial brain tumors. Approximately 70% of all oligodendrogliomas have a combined loss of the entire 1p and 19q chromosomal arms. This remarkably high frequency suggests that the remaining arms harbor yet to be identified tumor suppressor genes. Identification of these causal genetic changes in oligodendrogliomas is important because they form direct targets for treatment. In this study we therefore performed targeted resequencing of all exons, microRNAs, splice sites and promoter regions residing on 1p and 19q on 7 oligodendrogliomas and 4 matched controls. Only one missense mutation was identified in a single sample in the ARHGEF16 gene. This mutation lies within- and disrupts the conserved PDZ binding domain. No similar ARHGEF16 mutations or deletions were found in a larger set of oligodendrogliomas. The absence of common somatic changes within genes located on 1p and 19q in three out of four samples indicates that no additional "second hit" is required to drive oncogenic transformation on either chromosomal arm.Linda B BraltenStephan NouwensChristel KockxLale ErdemCasper C HoogenraadJohan M KrosMichael J MoorhousePeter A Sillevis SmittPeter van der SpekWilfred van IjckenAndrew StubbsPim J FrenchPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 7, p e22000 (2011)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Linda B Bralten
Stephan Nouwens
Christel Kockx
Lale Erdem
Casper C Hoogenraad
Johan M Kros
Michael J Moorhouse
Peter A Sillevis Smitt
Peter van der Spek
Wilfred van Ijcken
Andrew Stubbs
Pim J French
Absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.
description A common and histologically well defined subtype of glioma are the oligodendroglial brain tumors. Approximately 70% of all oligodendrogliomas have a combined loss of the entire 1p and 19q chromosomal arms. This remarkably high frequency suggests that the remaining arms harbor yet to be identified tumor suppressor genes. Identification of these causal genetic changes in oligodendrogliomas is important because they form direct targets for treatment. In this study we therefore performed targeted resequencing of all exons, microRNAs, splice sites and promoter regions residing on 1p and 19q on 7 oligodendrogliomas and 4 matched controls. Only one missense mutation was identified in a single sample in the ARHGEF16 gene. This mutation lies within- and disrupts the conserved PDZ binding domain. No similar ARHGEF16 mutations or deletions were found in a larger set of oligodendrogliomas. The absence of common somatic changes within genes located on 1p and 19q in three out of four samples indicates that no additional "second hit" is required to drive oncogenic transformation on either chromosomal arm.
format article
author Linda B Bralten
Stephan Nouwens
Christel Kockx
Lale Erdem
Casper C Hoogenraad
Johan M Kros
Michael J Moorhouse
Peter A Sillevis Smitt
Peter van der Spek
Wilfred van Ijcken
Andrew Stubbs
Pim J French
author_facet Linda B Bralten
Stephan Nouwens
Christel Kockx
Lale Erdem
Casper C Hoogenraad
Johan M Kros
Michael J Moorhouse
Peter A Sillevis Smitt
Peter van der Spek
Wilfred van Ijcken
Andrew Stubbs
Pim J French
author_sort Linda B Bralten
title Absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.
title_short Absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.
title_full Absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.
title_fullStr Absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.
title_full_unstemmed Absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.
title_sort absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.
publisher Public Library of Science (PLoS)
publishDate 2011
url https://doaj.org/article/e99b8474a2a34603829260532f3abc87
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