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Genetic testing by cancer site: endocrine system.

Authors
  • Pilarski, Robert1
  • Nagy, Rebecca
  • 1 Clinical Cancer Genetics Program, The Ohio State University, Columbus, OH 43240, USA. [email protected]
Type
Published Article
Journal
Cancer journal (Sudbury, Mass.)
Publication Date
Jan 01, 2012
Volume
18
Issue
4
Pages
364–371
Identifiers
DOI: 10.1097/PPO.0b013e3182609458
PMID: 22846739
Source
Medline
License
Unknown

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.

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