Study
Comprehensive analysis of atypical teratoid rhabdoid tumour (ATRT) using genomic, epigenomic and transcriptomic techniques.
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001000506 | Other |
Study Description
ATRTs (Atypical teratoid rhabdoid tumours) represent one of the most aggressive pediatric brain cancers, but intriguingly exhibit few other recurrently mutated loci except for SMARCB1/hSNF5. We integrated whole genome (n=15), exome, copy number, gene expression and methylation analyses to comprehensively interrogate 64 ATRTs and observed that structural events were relatively frequent in the ATRT genome (~3 tumour). In addition to SMARCB1, which was targeted by structural events in a majority (49/64) of tumours, recurrent structural alterations targeting the LRP1B, CDH13, BCR and MKL1 loci were observed. We observed novel translocation events, including 2 targeting SMARCB1 which were detected only by NGS analyses. Significantly, integration of gene expression and methylation profiles with genomic analyses revealed ATRT comprise two sub-groups with distinct clinical and genetic features. Group 1 tumours were characterized by supra-tentorial brain location, focal intragenic alterations of SMARCB1 and a pro-neural gene expression signature with evidence of NOTCH pathway activation. ... (Show More)
Study Datasets 10 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001004576 |
ATRT whole exome sequencing
|
Illumina HiSeq 2000,unspecified | 32 |
EGAD00001004836 |
ATRT ChIPSeq H3K27ac
|
Illumina HiSeq 2500 | 3 |
EGAD00001004837 |
ATRT RNASeq
|
Illumina HiSeq 2500 | 4 |
EGAD00001004847 |
ATRT ATACSeq
|
Illumina HiSeq 2000 | 18 |
EGAD00010000710 |
ATRT genotyping blood
|
11 | |
EGAD00010000712 |
ATRT genotyping
|
40 | |
EGAD00010000789 |
ATRT expression
|
Illumina Human HT6-v3 Array,unknown | 4 |
EGAD00010000790 |
ATRT expression
|
Illumina Human HT6-v3 Array,unknown | 41 |
EGAD00010001433 |
ATRT methylation
|
Illumina HumanMethylation450 BeadChip | 162 |
EGAD00010001546 |
ATRT expression
|
Illumina HumanHT-12 v4.0 Array | 43 |
Who archives the data?

Publications
Citations
Retrieving...

Retrieving...

Retrieving...

Retrieving...
