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Ena-DATASET-VUMC-CCA-03-02-2016-12:25:24:488-68 - samples

ABSTRACT: Paired-end whole exome sequenncing (Illumina) of primary enucleated retinoblastoma and matching lymphocyte DNA was performed to find somatic alterations that are related to oncogenesis.

PROVIDER: EGAD00001001909 | EGA |

REPOSITORIES: EGA

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Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Kooi Irsan E IE Mol Berber M BM Massink Maarten P G MP Ameziane Najim N Meijers-Heijboer Hanne H Dommering Charlotte J CJ van Mil Saskia E SE de Vries Yne Y van der Hout Annemarie H AH Kaspers Gertjan J L GJ Moll Annette C AC Te Riele Hein H Cloos Jacqueline J Dorsman Josephine C JC

Scientific reports 20160429

Retinoblastoma is a rare childhood cancer initiated by RB1 mutation or MYCN amplification, while additional alterations may be required for tumor development. However, the view on single nucleotide variants is very limited. To better understand oncogenesis, we determined the genomic landscape of retinoblastoma. We performed exome sequencing of 71 retinoblastomas and matched blood DNA. Next, we determined the presence of single nucleotide variants, copy number alterations and viruses. Aside from ...[more]

PMID: 27126562

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