Recent advances in MDS mutation landscape: splicing and signalling

Publication date: Available online 5 November 2019Source: Advances in Biological RegulationAuthor(s): Matilde Y. Follo, Andrea Pellagatti, Stefano Ratti, Giulia Ramazzotti, Irene Faenza, Roberta Fiume, Sara Mongiorgi, Pann-Ghill Suh, James A. McCubrey, Lucia Manzoli, Jacqueline Boultwood, Lucio CoccoAbstractRecurrent cytogenetic aberrations, genetic mutations and variable gene expression have been consistently recognized in solid cancers and in leukaemia, including in Myelodysplastic Syndromes (MDS). Besides conventional cytogenetics, the growing accessibility of new techniques has led to a deeper analysis of the molecular significance of genetic variations. Indeed, gene mutations affecting splicing genes, as well as genes implicated in essential signalling pathways, play a pivotal role in MDS physiology and pathophysiology, representing potential new molecular targets for innovative therapeutic strategies.
Source: Advances in Biological Regulation - Category: Biology Source Type: research