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Study Description

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.

  • Study Types: Case Set, Whole Genome Sequencing, Tumor vs. Matched-Normal
  • Number of study subjects that have individual level data available through Authorized Access: 93

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Cases of medulloblastoma treated at St. Jude Children's Hospital - St. Jude Medulloblastoma 2003 trial (SJMB03) with central pathology review confirming the diagnosis of medulloblastoma. The cases in this cohort have had whole genome sequencing of tumor and normal DNA performed. Cases were selected that had appropriate consent for genetic studies, and suitable material for sequencing (high purity tumor populations and available normal DNA).

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix AFFY_6.0 934940 52074
Study History

Whole genome sequence from 40 cases of medulloblastoma and sequence from matched normal samples.

Selected publications
Diseases Related to Study (MESH terms)
Links to Other NCBI Resources
Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • Richard Gilbertson. St. Jude Children's Research Hospital, Memphis, TN, USA
  • Institute
    • St. Jude Children's Research Hospital, Memphis, TN, USA