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...
Guardado en:
Autores principales: | , , , , , , , , , , , |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2011
|
Materias: | |
Acceso en línea: | https://doaj.org/article/e99b8474a2a34603829260532f3abc87 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
id |
oai:doaj.org-article:e99b8474a2a34603829260532f3abc87 |
---|---|
record_format |
dspace |
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 |
work_keys_str_mv |
AT lindabbralten absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT stephannouwens absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT christelkockx absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT laleerdem absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT casperchoogenraad absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT johanmkros absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT michaeljmoorhouse absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT peterasillevissmitt absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT petervanderspek absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT wilfredvanijcken absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT andrewstubbs absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas AT pimjfrench absenceofcommonsomaticalterationsingeneson1pand19qinoligodendrogliomas |
_version_ |
1718424326681657344 |