Article
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.
Scientific reports - 29 Apr 2016
Kooi Irsan E, Mol Berber M, Massink Maarten P G, Ameziane Najim, Meijers-Heijboer Hanne, Dommering Charlotte J, van Mil Saskia E, de Vries Yne, van der Hout Annemarie H, Kaspers Gertjan J L, Moll Annette C, Te Riele Hein, Cloos Jacqueline, Dorsman Josephine C
Abstract excerpt
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...
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