Retinoblastoma is the most common intraocular cancer of infancy and childhood, with an incidence of one case per 15,000 - 20,000 live births. An early event in retinoblastoma genesis is a functional loss of both alleles of the RB1 gene. However, other genes are likely to be involved in the development of this cancer. In this study we sought to build a comprehensive molecular portrait of this cancer by performing transcriptomic, methylomic, as well as genomic profiling of primary retinoblastoma samples. The patients whose tumors were studied had received no treatment prior to surgical enucleation.
This SuperSeries is composed of the SubSeries listed below.
Overall design: Refer to individual Series: 118 samples distincts
Expression profiling by array (62 samples distincts, 66 files with replicates)
Genome variation profiling by SNP array (44 samples by SNP 370k, 22 samples by SNP 610k and 28 samples by Cytoscan)
Methylation profiling by genome tiling array (70 samples distincts, 74 files with replicates)
Genome variation profiling by genome tiling array (51 samples by BAC 3k and 26 samples by BAC 5k)
| Accession | PRJNA253480; GEO: GSE58785 |
| Type | Umbrella project |
| Publications | Liu J et al., "A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.", Nat Commun, 2021 Sep 22;12(1):5578 |
| Submission | Registration date: 24-Jun-2014
Equipe Radvanyi, UMR 144, Institut Curie |
| Relevance | Superseries |
Project Data:
| Resource Name | Number
of Links |
|---|
| Publications |
| PubMed | 1 |
| PMC | 1 |
| Other datasets |
| GEO DataSets | 5 |
GEO Data Details| Parameter | Value |
|---|
| Data volume, Spots | 1667898 |
| Data volume, Processed Mbytes | 38 |
| Data volume, Supplementary Mbytes | 5653 |
Pan-genomic study of primary human retinoblastoma samples encompasses the following 4 sub-projects:
| Project Type | Number of Projects |
| Epigenomics | 1 |
BioProject
accession | Organism | Title |
|---|
| PRJNA253483 | Homo sapiens | Retinoblastoma genome methylation data (Equipe Radvanyi, UMR 144,...) |
|
| Transcriptome or Gene expression | 1 |
BioProject
accession | Organism | Title |
|---|
| PRJNA253482 | Homo sapiens | Retinoblastoma gene expression data (Equipe Radvanyi, UMR 144,...) |
|
| Variation | 2 |
BioProject
accession | Organism | Title |
|---|
| PRJNA253481 | Homo sapiens | Retinoblastoma genome variation profiling by genome tiling array (Equipe Radvanyi, UMR 144,...) | | PRJNA253484 | Homo sapiens | Retinoblastoma SNP array data (Equipe Radvanyi, UMR 144,...) |
|