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The Genomic Analysis of Medulloblastoma
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Richard Gilbertson,  
Project

About This Dataset
Medulloblastoma is a heterogenous disease made up of at least four distinct subtypes of disease which appear to exploit and disrupt naturally occurring developmental pathways of cellular growth and hindbrain development. To better understand the driver mutations of this disease, we performed whole genome sequencing of 37 medulloblastomas and the corresponding normal DNA of the 37 affected children treated at St. Jude Children's Research Hospital. We have found several novel mutations which appear subtype specific. These mutations were checked for frequency in a separate tumor cohort of 56 children with medulloblastoma, also treated on the St. Jude Medulloblastoma 2003 trial, and were tested in several animal models of medulloblastoma for proof of oncogenic potential.
Core Data Elements
Number of Cases
93
Case Sex
Female (30); Male (63)
Case Age At Diagnosis
0 to 4 years (27); 5 to 9 years (48); 10 to 14 years (15); 15 to 19 years (3)
Case Race
Black or African American (6); White (62); Not Reported (25)
Case Ethnicity
Hispanic or Latino (14); Not Hispanic or Latino (79)
Case Disease Diagnosis
Medulloblastoma (93)
Case Tumor Site
Posterior Fossa (93)
Number of Samples
40
Sample Assay Method
Whole Genome Sequencing (40)
Additional Data Elements
DBGAP STUDY IDENTIFIER
GEO STUDY IDENTIFIER
Grant Information
P30CA021765
Cancer Center Support Grant (CCSG)
R01CA129541
An Investigation of Radial Glia as the Source of Ependymoma Stem Cells
Published In
https://doi.org/10.1038/nature11213
Charts
Male (63); Female (30)
63Male