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Study Description

Retinoblastoma is a pediatric cancer of the developing retina. All retinoblastomas are believed to initiate with biallelic inactivation of the RB1 gene. To identify subsequent genetic lesions in retinoblastoma, we performed whole genome sequencing of tumor and normal DNA of 4 children with retinoblastoma and one matched orthotopic xenograft. Both alleles of RB1 were inactivated in the tumor samples. 3 of the patients had sporadic retinoblastoma and one patient had inherited retinoblastoma. Overall, there were few single nucleotide changes in coding regions of the genome and some of the tumors had few chromosomal lesions. There were very few new genetic lesions in the xenograft compared to the primary tumor. These data suggest that the genome in retinoblastoma is more stable than previously believed and there are relatively few recurrent genetic lesions in known cancer pathways other than the RB1 pathway.

  • Study Types: Case Set, Tumor vs. Matched-Normal, Whole Genome Sequencing, Xenograft
  • dbGaP estimated ancestry components using GRAF-pop
  • Number of study subjects that have individual level data available through Authorized Access: 46

Authorized Access
Publicly Available Data (Public ftp)

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Study Inclusion/Exclusion Criteria

Cases of untreated retinoblastoma that had progressed and required surgical enucleation. The cases in this cohort have had whole genome sequencing of tumor and normal DNA performed. One of the cases had an orthotopic xenograft established from the primary tumor. Cases were selected that had appropriate consent for genetic studies, and suitable material for sequencing (high purity tumor populations and available normal DNA obtained).

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix AFFY_6.0 934940 52074
Study History

Whole genome sequence data from four cases of retinoblastoma and sequence from matched normal samples. Whole genome sequence from an orthotopic xenograft from one patient.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Authorized Data Access Requests
Study Attribution