title: Genetic testing by cancer site: endocrine system.
abstract: Numerous hereditary syndromes, caused by mutations in multiple tumor suppressor genes and oncogenes, can cause tumors in organs of the endocrine system. The primary syndromes (and genes) addressed here include multiple endocrine neoplasia types 1 and 2 (MEN1 and RET genes), Cowden syndrome (PTEN), hereditary pheochromocytoma/paraganglioma syndromes (multiple genes), and von Hippel-Lindau disease (VHL). Clinical genetic testing is available for each of these syndromes and is generally directed to individuals with endocrine or other tumors and additional features suggestive of a hereditary syndrome. However, for some endocrine tumors, the proportion because of heredity is so high that genetic testing may be appropriate for all affected individuals. Management for hereditary cases typically involves aggressive screening and/or surgical protocols, starting at young ages to minimize morbidity and mortality. Endocrine tumors can be less commonly seen in a number of other hereditary syndromes (eg, neurofibromatosis), which are not reviewed in this section.
authors: Clinical Cancer Genetics Program, The Ohio State University, Columbus, OH 43240, USA. Robert.pilarski@osumc.edu
authors: Robert
authors: R
authors: Pilarski
authors: Rebecca
authors: R
authors: Nagy
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics; D004701:Endocrine Gland Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics*; D010282:Parathyroid Neoplasms / Q000235:genetics; D010911:Pituitary Neoplasms / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics