Journal
NATURE GENETICS
Volume 47, Issue 12, Pages 1411-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3438
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Funding
- Villa Joep Foundation
- Children Cancer-Free Foundation
- KWF/Netherlands Cancer Foundation
- European Union European Research Council (ERC) Advanced grant
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Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up-and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. 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.
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