Oncogenetic Testing for Persons With Hereditary Endocrine Cancer Syndromes

This clinical practice guideline discusses genetic testing for patients diagnosed with or suspected of having hereditary endocrine cancer syndromes, specifically multiple endocrine neoplasia type 2 (MEN2), multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Lindau (VHL) syndrome, and paraganglioma and phaeochromocytoma. Indications for genetic testing of relatives of patients is also reviewed. Genetic testing for Succinate Dehydrogenase B, C and D (SDHB, SDHC, SDHD), menin, VHL and RET mutations are discussed. Outcomes of interest include diagnostic accuracy, health outcomes, and psychosocial outcomes.