Next gen seq of eye cancers (2019-08-14)

Dataset ID Technology Samples
EGAD00001005251 HiSeq X Ten 47

Dataset Description

Retinoblastoma (RB), the commonest eye cancer in children was the first cancer for which a genetic cause was identified: the Rb1 gene is a tumour suppressor gene that is mutated in RB.
The Rb1 gene defect alone does not predict the clinical outcome. We propose to study other possible mechanisms:
1. Stepwise further mutations occur in RB, increasing its carcinogenesis. We will sequence the whole genome in RB tissue, and relate the different genes expressed to the treatments used.
2. Extracellular matric proteins contribute to a tumour permissive environment for RB to continue to grow. This includes Samll Leucine Rich Proteoglycans (SLRP), a family of 15 secreted extracellular matrix proteins involved in eye development.
3. Cancer stem cells (CSC), a subpopulation of treatment resistant cells, drive RB tumours, and whether these stem cells can be manipulated for new therapies.

The aim of this study is to assist finding targeted diagnostic techniques and treatments for RB. .
This dataset contains all the data available for this study on 2019-08-14.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Wellcome Trust Sanger Institute
Contact person: Data Sharing
Email: datasharing [at] sanger [dot] ac [dot] uk
Access information:
More details: EGAC00001000205


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