Cascón Alberto

I have been working as researcher at the CNIO´s Hereditary Endocrine Cancer laboratory since 2001. During these years, my professional activity has been mainly focused on the study of the genetic and molecular basis of the development of pheochromocytomas and paragangliomas (PPGL), rare and orphan tumors of endocrine origin. In addition to my participation in the molecular characterization of the disease, in the development of algorithms and in the implementation of new genetic diagnostic techniques, my most important contribution to the knowledge of the disease has been the identification and characterization of new genes involved in the hereditary susceptibility to develop PPGL. Thanks to this line of research, we were able to identify in 2011 the first gene (MAX) of hereditary predisposition to cancer (PPGL) discovered through the use of whole exome sequencing (Comino-Mendez et al., Nat Genet 2011). Subsequently, several consecutive projects led by myself and based on NGS (exomes and candidate gene panels), allowed us to identify four additional genes (MDH2 [Cascon et al, JNCI 2015], GOT2 [Remacha et al., Clin Can Res 2017], DNMT3A [Remacha et al., Genet Med 2018] and DLST [Remacha et al., AJHG 2019]), all involved in the inherited susceptibility to develop this multi-gene tumor disease. The discovery of these genes has served to improve the genetic diagnosis of PPGL patients and, today, they are included and analyzed as part of most PPGL genetic study panels worldwide.