Paraganglioma and phaeochromocytoma: from genetics to personalized medicine

  title={Paraganglioma and phaeochromocytoma: from genetics to personalized medicine},
  author={J. Favier and L. Amar and A. Gimenez-Roqueplo},
  journal={Nature Reviews Endocrinology},
  • J. Favier, L. Amar, A. Gimenez-Roqueplo
  • Published 2015
  • Medicine
  • Nature Reviews Endocrinology
  • Paragangliomas and phaeochromocytomas are neuroendocrine tumours whose pathogenesis and progression are very strongly influenced by genetics. A germline mutation in one of the susceptibility genes identified so far explains ∼40% of all cases; the remaining 60% are thought to be sporadic cases. At least one-third of these sporadic tumours contain a somatic mutation in a predisposing gene. Genetic testing, which is indicated in every patient, is guided by the clinical presentation as well as by… CONTINUE READING
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