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- W2024294030 abstract "Retinoblastoma is the most common intraocular malignant tumor in childhood. Approximately 45% of retinoblastoma patients have germline abnormalities. Screening for a constitutional RB1 mutation has become an integral part of the current management of the families of patients with retinoblastoma. Optimization of RB1 mutation detection has decreased test costs and turnaround time, and has increased the likelihood of clinical implementation. This article reviews the different types of mutations and analyzes the genotype–phenotype relationship demonstrating the complexity and the genetic diversity of retinoblastoma. A reminder is given that hereditary retinoblastoma constitutes a cancer predisposition syndrome in children carrying a constitutional RB1 gene mutation. New insights on the genomic changes in the development of retinoblastoma are also discussed, as well as future potential clinical applications and new therapeutic targets" @default.
- W2024294030 created "2016-06-24" @default.
- W2024294030 creator A5055346726 @default.
- W2024294030 date "2010-08-01" @default.
- W2024294030 modified "2023-09-27" @default.
- W2024294030 title "Genetics of retinoblastoma" @default.
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- W2024294030 doi "https://doi.org/10.1586/eop.10.47" @default.
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