Article
Retinoblastoma: From genes to patient care.
European journal of medical genetics - 1 Jan 2023
Bouchoucha Y, Matet A, Berger A, Carcaboso A M, Gerrish A, Moll A, Jenkinson H, Ketteler P, Dorsman J C, Chantada G, Beck-Popovic M, Munier F, Aerts I, Doz F, Golmard L
Abstract excerpt
Retinoblastoma is the most common paediatric neoplasm of the retina, and one of the earliest model of cancer genetics since the identification of the master tumour suppressor gene RB1. Tumorigenesis has been shown to be driven by pathogenic variants of the RB1 locus, but also genomic and epigenomic alterations outside the locus. The increasing knowledge on this "mutational landscape" is used in current practice...
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