TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors

Dataset ID Technology Samples
EGAD00001001635 N/A 42

Dataset Description

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

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

AMC Neuroblastoma Study
Contact person: Jan Koster
Email: jankoster [at] amc [dot] uva [dot] nl
More details: EGAC00001000047


You don't have access to the download section.