Genetic testing by cancer site: endocrine system

Cancer J. 2012 Jul-Aug;18(4):364-71. doi: 10.1097/PPO.0b013e3182609458.

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.

Publication types

  • Review

MeSH terms

  • Adrenal Gland Neoplasms / genetics
  • Endocrine Gland Neoplasms / diagnosis
  • Endocrine Gland Neoplasms / genetics*
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Humans
  • Multiple Endocrine Neoplasia / diagnosis
  • Multiple Endocrine Neoplasia / genetics*
  • Parathyroid Neoplasms / genetics
  • Pituitary Neoplasms / genetics
  • Thyroid Neoplasms / genetics