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TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors

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

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Policy for EGAS00001001479

European Genome-Phenome Archivec/o European Bioinformatics InstituteWellcome Trust Genome CampusHinxtonCambridgeCB10 1SDUnited KingdomTo whom it may concern,This document refers to the data set, EGAS00001001479, which has been submitted to the European Genome Archive (EGA) for the restricted access by legitimate academic institutions that have agreed to comply with the terms of a Data Access Agreement drafted by the Consortium Data Access Committee (CDAC) of the AMC Neuroblastoma Study Group. There are a number of steps that a researcher must take to obtain access to this data and the process is overseen by our Data Access Committee, called AMC Neuroblastoma Study Group Data Access Committee (r.versteeg@amc.uva.nl). Prof. Dr. Rogier Versteeg is head of the dept of Oncogenomics, Academic Medical Center, Amsterdam and is authorized to approve researchers to have encrypted access to the data submitted to the EGA. Please be advised that Dr. Jan Koster (Jankoster@amc.uva.nl) is authorized to upload data to the EGA for archiving and distribution as part of your submission process, which will enable approved researchers to have encrypted access to the data. We can confirm that this submission is consistent with the informed consent of the participants of the study or has been granted ethical approval and is in accordance with the applicable laws and regulations.Sincerely,Prof. Dr. Rogier Versteeg

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001001479 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000892161 tar 58.9 GB
EGAF00000892162 tar 56.8 GB
EGAF00000892163 tar 67.2 GB
EGAF00000892164 tar 66.3 GB
EGAF00000892165 tar 66.2 GB
EGAF00000892166 tar 56.2 GB
EGAF00000892167 tar 65.7 GB
EGAF00000892168 tar 66.8 GB
EGAF00000892169 tar 65.4 GB
EGAF00000892170 tar 65.8 GB
EGAF00000892171 tar 55.0 GB
EGAF00000892172 tar 55.7 GB
EGAF00000892173 tar 54.8 GB
EGAF00000892174 tar 56.9 GB
EGAF00000892175 tar 80.4 GB
EGAF00000892176 tar 53.8 GB
EGAF00000892177 tar 65.3 GB
EGAF00000892178 tar 81.3 GB
EGAF00000892179 tar 65.7 GB
EGAF00000892180 tar 66.4 GB
EGAF00000892181 tar 58.8 GB
EGAF00000892182 tar 66.6 GB
EGAF00000892183 tar 66.1 GB
EGAF00000892184 tar 67.0 GB
EGAF00000892185 tar 67.2 GB
EGAF00000892186 tar 67.2 GB
EGAF00000892187 tar 66.8 GB
EGAF00000892188 tar 78.0 GB
EGAF00000892189 tar 66.5 GB
EGAF00000892190 tar 67.3 GB
EGAF00000892191 tar 88.6 GB
EGAF00000892192 tar 57.5 GB
EGAF00000892193 tar 59.0 GB
EGAF00000892194 tar 56.3 GB
EGAF00000892195 tar 57.3 GB
EGAF00000892196 tar 56.2 GB
EGAF00000892197 tar 81.1 GB
EGAF00000892198 tar 64.9 GB
EGAF00000892199 tar 65.9 GB
EGAF00000892200 tar 89.0 GB
EGAF00000892201 tar 58.0 GB
EGAF00000892202 tar 58.7 GB
42 Files (2.7 TB)