The genomic landscape of retinoblastoma: A review

Brigitte L. Thériault, Helen Dimaras, Brenda L. Gallie, Timothy W. Corson

Research output: Contribution to journalReview article

86 Scopus citations


Retinoblastoma is a paediatric ocular tumour that continues to reveal much about the genetic basis of cancer development. Study of genomic aberrations in retinoblastoma tumours has exposed important mechanisms of cancer development and identified oncogenes and tumour suppressors that offer potential points of therapeutic intervention. The recent development of next-generation genomic technologies has allowed further refinement of the genomic landscape of retinoblastoma at high resolution. In a relatively short period of time, a wealth of genetic and epigenetic data has emerged on a small number of tumour samples. These data highlight the inherent molecular complexity of this cancer despite the fact that most retinoblastomas are initiated by the inactivation of a single tumour suppressor gene. This review outlines the current understanding of the genomic, genetic and epigenetic changes in retinoblastoma, highlighting recent genome-wide analyses that have identified exciting candidate genes worthy of further validation as potential prognostic and therapeutic targets. copy; 2013 Royal Australian and New Zealand College of Ophthalmologists.

Original languageEnglish (US)
Pages (from-to)33-52
Number of pages20
JournalClinical and Experimental Ophthalmology
Issue number1
StatePublished - Jan 2014


  • Cytogenetics
  • Epigenetics
  • MicroRNA
  • Retinoblastoma
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Ophthalmology

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