Abstract
During the past 10 years susceptibility genes have been identified for inherited cancer syndromes involving pheochromocytomas including multiple endocrine neoplasia type 2, caused by germline mutations in the RET proto-oncogene and von Hippel-Lindau disease, caused by germline mutations of the tumor suppressor gene VHL. More recently, the role of the mitochondrial complex II peptides in the tumorigenesis of paragangliomas has unfolded. The challenge for the future is to further clarify the normal functions of the genes involved in the tumorigenesis of pheochromocytomas and paragangliomas and the mechanisms by which their activation or inactivation leads to the tumorigenic phenotype. This review focuses on recent developments in the genetics of pheochromocytomas and paragangliomas and the significance of these genetic changes to understanding the disease phenotype, not only in familial but also in sporadic disease.
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