DAC

AMC Neuroblastoma Study

Dac ID Contact Person Email Access Information
EGAC00001000047 Jan Koster jankoster [at] amc [dot] uva [dot] nl No additional information is available

This DAC controls 4 datasets:

Dataset ID Description Technology Samples
EGAD00001000202 Neuroblastoma samples (Analyses_vcf files) 204
EGAD00001000196 Neuroblastoma samples Complete Genomics; 203
EGAD00010000552 Neuroblastoma samples 130
EGAD00001001635 Whole genome sequencing detected structural rearrangements of TERT in 17/75 high stage neuroblastoma with 5 cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted immediate up- and down-stream regions of TERT, placing in 7 cases a super-enhancer close to the breakpoints. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high stage neuroblastoma, each associated with very poor prognosis. This submission contains all newly sequenced samples only. study_refcenter AMC 42