Gene expression profile of a MDH2-mutated tumor
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: ALBERTO SORIANO
PROVIDER: E-GEOD-56573 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.
Cascón Alberto A Comino-Méndez Iñaki I Currás-Freixes María M de Cubas Aguirre A AA Contreras Laura L Richter Susan S Peitzsch Mirko M Mancikova Veronika V Inglada-Pérez Lucía L Inglada-Pérez Lucía L Pérez-Barrios Andrés A Calatayud María M Azriel Sharona S Villar-Vicente Rosa R Aller Javier J Setién Fernando F Moran Sebastian S Garcia Juan F JF Río-Machín Ana A Letón Rocío R Gómez-Graña Álvaro Á Apellániz-Ruiz María M Roncador Giovanna G Esteller Manel M Rodríguez-Antona Cristina C Satrústegui Jorgina J Eisenhofer Graeme G Urioste Miguel M Robledo Mercedes M
Journal of the National Cancer Institute 20150311 5
Disruption of the Krebs cycle is a hallmark of cancer. IDH1 and IDH2 mutations are found in many neoplasms, and germline alterations in SDH genes and FH predispose to pheochromocytoma/paraganglioma and other cancers. We describe a paraganglioma family carrying a germline mutation in MDH2, which encodes a Krebs cycle enzyme. Whole-exome sequencing was applied to tumor DNA obtained from a man age 55 years diagnosed with multiple malignant paragangliomas. Data were analyzed with the two-sided Stude ...[more]
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