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Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx
University of Halle, Germany.
2005 (English)In: Familial Cancer, ISSN 1389-9600, E-ISSN 1573-7292, Vol. 4, no 1, 17-23 p.Article in journal (Refereed) Published
Abstract [en]

Pheochromocytoma are tumors derived from chromaffin cells that secrete catecholamines. These catecholamines may lead to increased blood pressure and even death. Historically, pheochromocytoma have been described as 10 tumor, i.e. about 10 were believed to be malignant, 10 were found to be extra-adrenal, and 10 were meant to be bilateral. Also, about 10 were considered to be hereditary. In these instances, they were most often part of either the multiple endocrine neoplasia type 2 (MEN 2) syndrome or the von Hippel-Lindau (VHL) disease. The genes (RET and VHL) involved have been known for several years and their function is the subject of ongoing investigation. Very recently, several genes (SDHD, SDHB, and SDHC) that belong to the mitochondrial complex II have been identified to be involved in the so-called pheochromocytoma-paraganglioma syndrome. Only SDHD and SDHB have so far been implicated in the pathogenesis of pheochromocytoma.

Place, publisher, year, edition, pages
Kluwer Academic Publishers, 2005. Vol. 4, no 1, 17-23 p.
Keyword [en]
function, genes, pheochromocytoma, proteins, RET, SDHx, VHL
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-101416DOI: 10.1007/s10689-004-5740-1PubMedID: 15883706OAI: diva2:666151
Available from: 2013-11-22 Created: 2013-11-22 Last updated: 2013-12-06Bibliographically approved

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Gimm, Oliver
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