Article
Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers.
The Journal of molecular diagnostics : JMD - 1 Dec 2021
Le Gall Jessica, Dehainault Catherine, Benoist Camille, Matet Alexandre, Lumbroso-Le Rouic Livia, Aerts Isabelle, Jiménez Irene, Schleiermacher Gudrun, Houdayer Claude, Radvanyi François, Frouin Eleonore, Renault Victor, Doz François, Stoppa-Lyonnet Dominique, Gauthier-Villars Marion, Cassoux Nathalie, Golmard Lisa
Abstract excerpt
Retinoblastoma is a malignant tumor of the infant retina. Nearly half of patients are predisposed to retinoblastoma by a germline RB1 pathogenic variant. Nonhereditary retinoblastoma is mainly caused by inactivation of both RB1 alleles at a somatic level. Several polymorphisms have been reported as biomarkers of retinoblastoma risk, aggressiveness, or invasion. The most informative genetic testing is obtained...
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