Article
Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma.
Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Aug 2010
Cerecer-Gil Nidia Y, Figuera Luis E, Llamas Francisco J, Lara Mauricio, Escamilla José G, Ramos Ruben, Estrada Gerardo, Hussain A Karim, Gaal José, Korpershoek Esther, de Krijger Ronald R, Dinjens Winand N M, Devilee Peter, Bayley Jean Pierre
Abstract excerpt
PURPOSE: Paragangliomas of the head and neck are neuroendocrine tumors and are associated with germ line mutations of the tricarboxylic acid cycle-related genes SDHB, SDHC, SDHD, and SDHAF2. Hypoxia is important in most solid tumors, and was directly implicated in tumorigenesis over 40 years ago when it was shown that dwelling at high altitudes increases the incidence of carotid body hyperplasia and...
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