title: Genetics and epigenetics of human retinoblastoma.
abstract: Retinoblastoma is a pediatric tumor of the developing retina from which the genetic basis for cancer development was first described. Inactivation of both copies of the RB1 gene is the predominant initiating genetic lesion in retinoblastoma and is rate limiting for tumorigenesis. Recent whole-genome sequencing of retinoblastoma uncovered a tumor that had no coding-region mutations or focal chromosomal lesions other than in the RB1 gene, shifting the paradigm in the field. The retinoblastoma genome can be very stable; therefore, epigenetic deregulation of tumor-promoting pathways is required for tumorigenesis. This review highlights the genetic and epigenetic changes in retinoblastoma that have been reported, with special emphasis on recent whole-genome sequencing and epigenetic analyses that have identified novel candidate genes as potential therapeutic targets.
authors.affiliation: Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105; email: michael.dyer@stjude.org.
authors.forename: Claudia A
authors.initials: CA
authors.lastname: Benavente
authors.forename: Michael A
authors.initials: MA
authors.lastname: Dyer
mesh_terms: D044127:Epigenesis, Genetic; D057890:Epigenomics; D016161:Genes, Retinoblastoma; D006801:Humans; D009154:Mutation; D019572:Retinal Neoplasms / Q000235:genetics*; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics
chemical_list: D016160:Retinoblastoma Protein
keywords: RB1; epigenetics; genetics; retinoblastoma