WGS dataset of Characterization of UV DNA damage in B-cell precursor acute lymphoblastic leukemia
We characterized B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patients that present with the mutational signature SBS7a. We found clear subtype specificity, but presence of SBS7a did not seem linked to heterogeneity within subtypes. To further distinguish the incidence of SBS7a in pediatric cancer we analyzed a pan-cancer WGS cohort and identified frequent SBS7a in anaplastic large cell lymphomas. As SBS7a is commonly found in skin cancers and has been linked to UV-light induced DNA damage, we compared the features of UV-light induced DNA damage in skin cancer and SBS7a in ALL, and found high similarity. We found no defects in UV damage response pathways in SBS7a-positive samples, indicating no additional UV vulnerability. Additionally, transcriptomic data showed no differences between samples with and without SBS7a. Finally we looked into the moment of exposure to the source of SBS7a by deep sequencing of diagnosis-relapse pairs and single cell whole genome sequencing of diagnosis samples with high SBS7a.
- 19/05/2025
- 22 samples
- DAC: EGAC00001001864
- Technology: Illumina NovaSeq 6000
DUO:0000007 version: 2021-02-23
disease specific research
This data use permission indicates that use is allowed provided it is related to the specified disease.
ModifiersMONDO_0006517
Data Access Agreement of data controlled by the Data Access Commitee of the Princess Maxima Center for Pediatric Oncology
The Princess Maxima Center for pediatric oncology default access policy to enable re-production of research and re-use of data for scientific purposes. Please contact the DAC (EGAC00001001864) for the most up to date policies.
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 |
|---|---|---|
| EGAS00001008128 | Cancer Genomics |
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 | Quality Report |
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| EGAF00008740141 | cram | 18.2 GB |
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| EGAF00008740142 | cram | 9.2 GB |
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| EGAF00008740143 | cram | 11.9 GB |
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| EGAF00008740144 | cram | 9.1 GB |
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| EGAF00008740145 | cram | 18.2 GB |
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| EGAF00008740146 | cram | 18.4 GB |
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| EGAF00008740147 | cram | 10.6 GB |
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| EGAF00008740148 | cram | 22.9 GB |
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| EGAF00008740149 | cram | 6.3 GB |
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| EGAF00008740150 | cram | 11.3 GB |
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| EGAF00008740151 | cram | 15.5 GB |
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| EGAF00008740152 | cram | 24.9 GB |
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| EGAF00008740153 | cram | 10.7 GB |
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| EGAF00008740154 | cram | 19.5 GB |
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| EGAF00008740155 | cram | 25.7 GB |
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| EGAF00008740156 | cram | 12.2 GB |
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| EGAF00008740157 | cram | 17.9 GB |
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| EGAF00008740158 | cram | 8.4 GB |
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| EGAF00008740159 | cram | 15.1 GB |
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| EGAF00008740160 | cram | 16.5 GB |
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| EGAF00008740161 | cram | 8.1 GB |
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| EGAF00008740162 | cram | 14.6 GB |
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| 22 Files (325.3 GB) | ||||