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Frequent driver mutations in histone H3.3 and chromatin remodeling genes in paediatric glioblastoma

ABSTRACT: Whole exome sequencing identified frequent driver mutations in a series of paediatric glioblastomas We used microarray-based profiling to investigate differences in gene expression according to mutational status of driver genes RNA from 27 primary tumor samples was subject to QC by Agilent BioAnalyser analysis and then hybridised to an Affymetrix U133 Plus2 gene expression array

ORGANISM(S): Homo sapiens

SUBMITTER: Marcel Kool 

PROVIDER: E-GEOD-34824 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.

Schwartzentruber Jeremy J   Korshunov Andrey A   Liu Xiao-Yang XY   Jones David T W DT   Pfaff Elke E   Jacob Karine K   Sturm Dominik D   Fontebasso Adam M AM   Quang Dong-Anh Khuong DA   Tönjes Martje M   Hovestadt Volker V   Albrecht Steffen S   Kool Marcel M   Nantel Andre A   Konermann Carolin C   Lindroth Anders A   Jäger Natalie N   Rausch Tobias T   Ryzhova Marina M   Korbel Jan O JO   Hielscher Thomas T   Hauser Peter P   Garami Miklos M   Klekner Almos A   Bognar Laszlo L   Ebinger Martin M   Schuhmann Martin U MU   Scheurlen Wolfram W   Pekrun Arnulf A   Frühwald Michael C MC   Roggendorf Wolfgang W   Kramm Christoph C   Dürken Matthias M   Atkinson Jeffrey J   Lepage Pierre P   Montpetit Alexandre A   Zakrzewska Magdalena M   Zakrzewski Krzystof K   Liberski Pawel P PP   Dong Zhifeng Z   Siegel Peter P   Kulozik Andreas E AE   Zapatka Marc M   Guha Abhijit A   Malkin David D   Felsberg Jörg J   Reifenberger Guido G   von Deimling Andreas A   Ichimura Koichi K   Collins V Peter VP   Witt Hendrik H   Milde Till T   Witt Olaf O   Zhang Cindy C   Castelo-Branco Pedro P   Lichter Peter P   Faury Damien D   Tabori Uri U   Plass Christoph C   Majewski Jacek J   Pfister Stefan M SM   Jabado Nada N  

Nature 20120129 7384

Glioblastoma multiforme (GBM) is a lethal brain tumour in adults and children. However, DNA copy number and gene expression signatures indicate differences between adult and paediatric cases. To explore the genetic events underlying this distinction, we sequenced the exomes of 48 paediatric GBM samples. Somatic mutations in the H3.3-ATRX-DAXX chromatin remodelling pathway were identified in 44% of tumours (21/48). Recurrent mutations in H3F3A, which encodes the replication-independent histone 3  ...[more]

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