Study
Whole genome sequencing of tumour and normal paired samples of diffuse intrinsic pontine gliomas
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001000572 | Other |
Study Description
Diffuse intrinsic pontine glioma (DIPG) have a universally dismal prognosis (median 9-12 months), with neither chemotherapeutic nor targeted agents showing any substantial survival benefit in clinical trials in children with these tumours. DIPG are highly infiltrative malignant glial neoplasms of the ventral pons, which due to their location within the brain, make them unsuitable for surgical resection and consequently have a universally dismal clinical outcome. Recent high-throughput sequencing approaches have revealed a striking prevalence of K27M mutations in the genes encoding the histone variants H3.3 (H3F3A) or H3.1 (HIST1H3B) in the childhood brain tumour DIPG. This K-to-M substitution confers a trans-dominant ablation of global H3K27 trimethylation, which likely profoundly alters gene expression through de-repression of polycomb repressive complex 2 (PRC2) target genes. Despite these advances in our understanding of the distinct biology of these tumours, approaches for specific novel therapeutic interventions are not clear, and little has been reported of the secondary ... (Show More)
Study Datasets 2 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 |
---|---|---|---|
EGAD00001000705 |
Whole genome sequencing of 20 tumour and normal pairs of diffuse intrinsic pontine glioma (DIPG)
|
Illumina HiSeq 2000 | 40 |
EGAD00001000706 |
Whole exome sequencing of 6 tumour and normal pairs of diffuse intrinsic pontine glioma (DIPG)
|
Illumina HiSeq 2000 | 12 |
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