Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson’s disease, which is…

• SF
  Sontag Foundation
• GC
  Genome Canada

  Award: 110814
• CD
  Children's Discovery Institute
• CH
  Children's Hospital Foundation
• CC
  Children's Cancer and Leukaemia Group
• OI
  Ontario Institute for Cancer Research
• CM
  Canada's Michael Smith Genome Sciences Centre
• GO
  Government of Ontario
• GB
  Genome British Columbia
• UO
  University of Toronto
• DK
  Deutsche Krebshilfe

  Award: 109252
• HF
  Hospital for Sick Children
• BC
  BC Cancer Foundation
• BT
  Brain Tumour Research
• NI
  National Institutes of Health

  Awards: CA86335, CA116804, CA138292
• CI
  Canadian Institutes of Health Research
• GF
  Garron Family Cancer Centre
• NC
  National Cancer Institute

  Awards: CA159859, CA138292, CA116804