Article
Prevalence of the Predisposing Gene MBD4 for Uveal Melanoma.
JAMA ophthalmology - 1 Jun 2026
Le Ven Anaïs, Villy Marie-Charlotte, Le Mentec Marine, Houy Alexandre, Dubois d'Enghien Catherine, Matet Alexandre, Malaise Denis, Bubien Virginie, Lortholary Alain, Ait Omar Amal, Stoppa-Lyonnet Dominique, Cassoux Nathalie, Rodrigues Manuel, Golmard Lisa, Stern Marc-Henri, Colas Chrystelle
Abstract excerpt
Importance: MBD4 monoallelic germline pathogenic and likely pathogenic variants have recently been identified as predisposing to uveal melanoma, a rare primary intraocular tumor, with an estimated 9.15-fold increased risk of developing the disease for pathogenic variant carriers. Objective: To assess the risk of developing uveal melanoma for carriers of the MBD4 monoallelic germline pathogenic variant. Design,...
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