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TranscriptomicsmRNA expression data of 62 human medulloblastoma tumors
To identify molecular subtypes of medulloblastoma we have profiled a series of 62 medulloblastoma tumors. Unsupervised hierarchical cluster analysis of these data identified 5 distinct molecular subtypes. Manuscript submitted. Title: Identification of medulloblastoma subtypes with distinct genetic p...
ORGANISM(S): Homo sapiens 
2008-09-02 | E-GEOD-10327 | biostudies-arrayexpress
TranscriptomicsAffymetrix SNP array data for low-grade astrocytoma samples
Copy number analysis of 21 paediatric low-grade astrocytomas identified a discrete copy number gain of 1.9Mb in chromosome band 7q34. The gain was present in 12/14 cerebellar pilocytic astrocytomas. Subsequent analysis of tumour cDNA indentified a novel gene fusion between KIAA1549 and BRAF in these...
ORGANISM(S): Homo sapiens 
2010-04-09 | E-GEOD-14960 | biostudies-arrayexpress
TranscriptomicsHierarchical synergy of Pten, p53 and Rb pathways in high-grade astrocytoma induced in adult brain
Mutations in the PTEN, TP53 and RB1 pathways are obligate events in the pathogenesis of human glioblastomas, the highest grade of astrocytoma. To investigate synergy between these tumor suppressors in mice, we induced various combinations of compound deletions conditionally in astrocytes and neural ...
ORGANISM(S): Mus musculus 
2011-03-23 | E-GEOD-22927 | biostudies-arrayexpress
TranscriptomicsGenome-wide Analyses of Diffuse Intrinsic Pontine Gliomas
Purpose: More than 90% of children with diffuse intrinsic pontine glioma (DIPG) die within 2 years of diagnosis. There is a dire need to identify therapeutic targets, however lack of patient material for research has limited progress. We evaluated a large cohort of diffuse intrinsic pontine gliomas ...
ORGANISM(S): Homo sapiens 
2011-09-20 | E-GEOD-26576 | biostudies-arrayexpress
TranscriptomicsIntegrated molecular genetic profiling of pediatric-high grade gliomas reveals key differences with adult disease
Purpose: To define copy number alterations and gene expression signatures underlying pediatric high-grade glioma (HGG). Patients and Methods: We conducted a high-resolution analysis of genomic imbalances in 78 de novo pediatric HGG, including 7 diffuse intrinsic pontine gliomas, and 10 HGG cases ar...
ORGANISM(S): Homo sapiens 
2010-06-15 | E-GEOD-19578 | biostudies-arrayexpress
TranscriptomicsNovel mutations target distinct subgroups of medulloblastoma.
Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive medulloblastoma we sequenced the entire genomes of 37 tumours and matched normal blood. One hundred and thirty-six genes harbouring somatic mutations in this discovery set wer...
ORGANISM(S): Homo sapiens 
2012-07-05 | E-GEOD-37418 | biostudies-arrayexpress
TranscriptomicsRobust Molecular Classification of Ependymal Tumors Across All Anatomic Compartments
Ependymal tumors across age groups have been classified solely by histopathology. It is, however, commonly accepted that this classification has limited clinical utility based on its poor reliability. We aimed at establishing a reliable and reproducible molecular classification using DNA methylation...
ORGANISM(S): Homo sapiens 
2015-05-21 | E-GEOD-65362 | biostudies-arrayexpress
TranscriptomicsHigh-resolution copy number analysis of medulloblastoma
We used high-resolution SNP genotyping to identify regions of genomic gain and loss in the genome of 212 medulloblastomas, a malignant pediatric brain tumor. Focal amplifications of fifteen known oncogenes and focal deletions of twenty known tumor suppressor genes (TSG) were revealed, most not prev...
ORGANISM(S): Homo sapiens 
2010-04-06 | E-GEOD-14437 | biostudies-arrayexpress
GenomicsMedullo-PAN-GATC - samples
Exome controls for 70 individuals, PAN-GATC cohort, sequenced on Illumina machines from the paper "Germline Elongator mutations in Sonic Hedgehog medulloblastoma" (Waszak et al. 2020 Nature).
EGAD00001006661 | EGA
GenomicsGenetic landscape of Early T-cell precursor acute lymphoblastic leukaemia
Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases and assessed the frequency of the identified somatic mutations in 94 T-cell acute lymphoblastic leukaemia cases. ETP ALL was c...
EGAS00001000348 | EGA
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