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The genomic landscape of retinoblastoma: a review
Author(s) -
Thériault Brigitte L,
Dimaras Helen,
Gallie Brenda L,
Corson Timothy W
Publication year - 2013
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/ceo.12132
Subject(s) - retinoblastoma , epigenetics , medicine , genomics , suppressor , computational biology , genome , gene , bioinformatics , cancer , genetics , cancer research , biology
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.

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