Study
The landscape of chromothripsis across adult cancer types
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001004250 | Other |
Study Description
Chromothripsis is a recently identified mutational phenomenon, by which a presumably single catastrophic event generates extensive genomic rearrangements of one or a few chromosome(s). Considered as an early event in tumour development, this form of genome instability plays a prominent role in tumour onset. Chromothripsis prevalence might have been underestimated when using low-resolution methods, and pan-cancer studies based on sequencing are rare. We analysed chromothripsis in 28 tumour types covering all major adult cancers (634 tumours, 316 whole-genome and 318 whole-exome sequences). We show that chromothripsis affects a substantial proportion of human cancers, with a prevalence of 49% across all cases. Chromothripsis generates entity-specific genomic alterations driving tumour development, including clinically relevant druggable fusions. Chromothripsis is linked with specific telomere patterns and univocal mutational signatures in distinct tumour entities. Longitudinal analysis of chromothriptic patterns in 24 matched tumour pairs reveals novel insights in the clonal evolution ... (Show More)
Study Datasets 8 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 |
|---|---|---|---|
| EGAD00001009272 |
WES/WGS sequencing data of 234 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired
|
Illumina HiSeq 2000,Illumina HiSeq 2500,Illumina HiSeq 4000 | 233 |
| EGAD00001009273 |
WES/WGS sequencing data of 86 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired
|
Illumina HiSeq 2000,Illumina HiSeq 2500,Illumina HiSeq 4000 | 86 |
| EGAD00001009274 |
WES/WGS sequencing data of 337 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired
|
HiSeq X Ten,Illumina HiSeq 4000 | 319 |
| EGAD00001009275 |
WES/WGS sequencing data of 56 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired
|
HiSeq X Ten | 56 |
| EGAD00001009276 |
WES/WGS sequencing data of 75 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired
|
Illumina HiSeq 2000,Illumina HiSeq 2500,Illumina HiSeq 4000 | 74 |
| EGAD00001009277 |
WES/WGS sequencing data of 44 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired
|
HiSeq X Ten | 40 |
| EGAD00001009278 |
WES/WGS sequencing data of 242 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired
|
Illumina HiSeq 2500,Illumina HiSeq 4000 | 242 |
| EGAD00001009279 |
WES/WGS sequencing data of 239 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired
|
HiSeq X Ten | 218 |
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