Article
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
PLoS genetics - 1 Feb 2016
Eloy Philippine, Dehainault Catherine, Sefta Meriem, Aerts Isabelle, Doz François, Cassoux Nathalie, Lumbroso le Rouic Livia, Stoppa-Lyonnet Dominique, Radvanyi François, Millot Gaël A, Gauthier-Villars Marion, Houdayer Claude
Abstract excerpt
Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral tumors, but some Rb families display low penetrance and variable expressivity. In order to decipher the underlying mechanisms, 23...
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