Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

doi:10.1093/jnci/djv053

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Article

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

Journal of the National Cancer Institute - 11 Mar 2015

Cascón Alberto, Comino-Méndez Iñaki, Currás-Freixes María, de Cubas Aguirre A, Contreras Laura, Richter Susan, Peitzsch Mirko, Mancikova Veronika, Inglada-Pérez Lucía, Pérez-Barrios Andrés, Calatayud María, Azriel Sharona, Villar-Vicente Rosa, Aller Javier, Setién Fernando, Moran Sebastian, Garcia Juan F, Río-Machín Ana, Letón Rocío, Gómez-Graña Álvaro, Apellániz-Ruiz María, Roncador Giovanna, Esteller Manel, Rodríguez-Antona Cristina, Satrústegui Jorgina, Eisenhofer Graeme, Urioste Miguel, Robledo Mercedes

Abstract excerpt

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...

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Identifiers

PMID: 25766404
DOI: 10.1093/jnci/djv053

Genes

MDH2
IDH1
IDH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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