Metabolome-guided genomics to identify mutations in isocitrate dehydrogenase, fumarate hydratase and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

PURPOSE: Metabolic aberrations have been described in neoplasms with mutations in the Krebs cycle genes encoding succinate dehydrogenase (SDH), fumarate hydratase (FH) and isocitrate dehydrogenase (IDH). In turn, accumulation of oncometabolites succinate, fumarate, and 2-hydroxyglutarate can be empl...

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Publicado en:Genet Med
Main Authors: Richter, Susan, Gieldon, Laura, Pang, Ying, Peitzsch, Mirko, Huynh, Thanh, Leton, Rocio, Viana, Bruna, Ercolino, Tonino, Mangelis, Anastasios, Rapizzi, Elena, Menschikowski, Mario, Aust, Daniela, Kroiss, Matthias, Beuschlein, Felix, Gudziol, Volker, Timmers, Henri JLM, Lenders, Jacques, Mannelli, Massimo, Cascon, Alberto, Pacak, Karel, Robledo, Mercedes, Eisenhofer, Graeme, Klink, Barbara
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6353556/
https://ncbi.nlm.nih.gov/pubmed/30050099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0106-5
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