Endocrine Abstracts

The high percentage of germline mutations found in patients with pheochromocytoma (PCC) and/or paraganglioma (PGL) in recent years has made this rare disease the most heritable of all tumors. Whole-exome sequencing (WES) has played a substantial role in deciphering the genetic causes of many of these hereditary cases. Thus, MAX, FH and MDH2 have been identified as PCC/PGL susceptibility genes by sequencing the whole exome of patients selected because...

Alberto Cascon obtained his BSc (1993) and PhD in Biology (2000) from the University of León (Spain). In 2001 he was awarded a Postdoctoral Fellowship by the Madrid City Council and took up position with the Hereditary Endocrine Cancer Group at the Spanish National Cancer Research Centre (CNIO) in Madrid. In 2004, he was awarded a Fellowship by the Spanish Department of Health, and became a Staff Scientist in the...