Article
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
European journal of human genetics : EJHG - 1 Nov 2015
Amitrano Sara, Marozza Annabella, Somma Serena, Imperatore Valentina, Hadjistilianou Theodora, De Francesco Sonia, Toti Paolo, Galimberti Daniela, Meloni Ilaria, Cetta Francesco, Piu Pietro, Di Marco Chiara, Dosa Laura, Lo Rizzo Caterina, Carignani Giulia, Mencarelli Maria Antonietta, Mari Francesca, Renieri Alessandra, Ariani Francesca
Abstract excerpt
In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this...
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