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 of the presence of a particular phenotype or distinctive molecular signature. Hereditary PCC/PGL is a good example of how WES has led to breakthroughs in understanding the genetic basis of an exceptionally rare syndrome.
17 - 19 Feb 2016
European Society of Endocrinology