Evidence of predisposing epimutation in retinoblastoma

In conclusion, we documented that promoter methylation can act as the first 'hit' in Knudson's model. This mosaic epimutation mimics the effect of an inactivating mutation and phenocopies RB onset.This article is protected by copyright. All rights reserved

Source: Human Mutation - November 14, 2018 Category: Genetics & Stem Cells Authors: Elisa Gelli, Anna Maria Pinto, Serena Somma, Valentina Imperatore, Marta G. Cannone, Theodora Hadjistilianou, Sonia Francesco, Daniela Galimberti, Aurora Curr ò, Mirella Bruttini, Francesca Mari, Alessandra Renieri, Francesca Ariani Tags: BRIEF REPORT Source Type: research