Study

Stratifying and Targeting Pediatric Medulloblastoma through Genomics

Study ID Alternative Stable ID Type
EGAS00001000273 Other

Study Description

In this project, genomic analyses of pediatric medulloblastoma samples, obtained through the international medulloblastoma consortium, will be performed. RNA and miRNA expression profiles of 1000 samples, representing all four subgroups (Wnt, Shh, Group C, and D), will be studied to identify novel subtypes within each subgroup. The resulting subtype-specific expression profiles will support the development of reliable and robust biomarkers to more accurately and reliably classify medulloblastomas for treatment in clinical trials. For that purpose, two assays will be developed: an antibody-based immunohistochemical assay and an orthogonal nucleic acid-based hybridization assay. Additional genomic DNA analysis of the 300 high risk subgroup cases will support the discovery of subgroup specific somatic mutations in order to inform current clinical trials of targeted therapies, and to identify genes and pathways already targeted in other diseases. Such therapies could be rapidly transitioned to Phase II trials in medulloblastoma. Furthermore, the discovery of somatic mutations could be ... (Show More)

Study Datasets 10 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000158
Subgroup-specific structural variation across 1,000 medulloblastoma genomes
23
EGAD00001000723
Relative Spatial Homogeneity of Embryonal Brain Tumors of Childhood
42
EGAD00001000818
Quiescent Sox2+ cells drive hierarchical growth and relapse in Sonic hedgehog subgroup medulloblastoma
4
EGAD00001000946
Divergent clonal selection dominates medulloblastoma at recurrence
125
EGAD00001001210
Medulloblastoma-associated DDX3 variant selectively alters the translational response to stress
28
EGAD00001001461
CBP has opposing functions during cerebellar development and is a targetable tumor suppressor at late stages of medulloblastoma initiation
30
EGAD00001001899
HDAC and PI3K Antagonists Cooperate to Inhibit Growth of MYC-driven Medulloblastoma
102
EGAD00001003907
A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases
79
EGAD00001004435
Childhood cerebellar tumours mirror conserved fetal transcriptional programs
Illumina HiSeq 2000 145
EGAD00001004958
Highly recurrent U1 snRNA mutations drive alternative splicing in HH medulloblastoma
Illumina HiSeq 2000,Illumina HiSeq 2500 234

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Publications

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