Genetic landscape of pediatric Medulloblastoma

Study ID Alternative Stable ID Type
EGAS00001000347 Whole Genome Sequencing

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 Datasets 3 datasets.

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Dataset ID Description Technology Samples
OLD DATA FILES FOR SJMB - Superseded by EGAD00001001864
Illumina HiSeq 2000 68
PCGP Germline Study Whole Genome Sequencing
Illumina HiSeq 2000 1337
DATA FILES FOR PCGP MB WGS - Supersedes (EGAD00001000269)
Illumina HiSeq 2000 76

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