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- Title
SDHC mutations in hereditary paraganglioma/pheochromocytoma.
- Authors
Müller, Ulrich; Troidl, Christian; Niemann, Stephan
- Abstract
Mutations in genes coding for three of the four components of mitochondrial complex II can cause paragangliomas (PGLs)/pheochromocytomas. The three genes include SDHB, -C, and -D. SDHC and SDHD anchor the catalytic subunits SDHA and -B of mitochondrial complex II in the inner mitochondrial membrane. SDHD is maternally imprinted but SDHB and -C are not. While SDHD and -- to a lesser degree -- SDHB mutations have been found in many cases of hereditary PGL, SDHC mutations are rare. This article reviews the SDHC mutations described to date and discusses possible mechanisms of tumorigenesis.
- Publication
Familial cancer, 2005, Vol 4, Issue 1, p9
- ISSN
1389-9600
- Publication type
Journal Article
- DOI
10.1007/s10689-004-0621-1