ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2016) 40 L12 | DOI: 10.1530/endoabs.40.L12

Identification of new familial pheochromocytoma/paraganglioma genes using next generation sequencing (NGS)

Alberto Cascon

Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

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.

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