Article
A functional assay to classify RB1 variants of uncertain significance.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2026
Le Gall Jessica, Dehainault Catherine, Petitalot Ambre, Amouyal Elsa, Petitou Jeanne, Caputo Sandrine M, Radvanyi François, Matet Alexandre, Cassoux Nathalie, Lumbroso-Le Rouic Livia, Aerts Isabelle, Doz François, Gauthier-Villars Marion, Stoppa-Lyonnet Dominique, Houdayer Claude, Golmard Lisa, Lallemand François
Abstract excerpt
PURPOSE: The RB1 gene encodes the retinoblastoma protein (pRB) playing a major role in cell cycle control, particularly by its interaction with E2F transcription factors. Familial forms of retinoblastoma are caused by germline pathogenic variants in the RB1 gene predisposing to retinoblastoma and other tumors. By analyzing the RB1 gene in patients with retinoblastoma, we found that missense variants often remain...
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