Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.

doi:10.1158/1078-0432.CCR-16-2250

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Article

Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.

Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Oct 2017

Remacha Laura, Comino-Méndez Iñaki, Richter Susan, Contreras Laura, Currás-Freixes María, Pita Guillermo, Letón Rocío, Galarreta Antonio, Torres-Pérez Rafael, Honrado Emiliano, Jiménez Scherezade, Maestre Lorena, Moran Sebastian, Esteller Manel, Satrústegui Jorgina, Eisenhofer Graeme, Robledo Mercedes, Cascón Alberto

Abstract excerpt

Purpose: Mutations in Krebs cycle genes are frequently found in patients with pheochromocytomas/paragangliomas. Disruption of SDH, FH or MDH2 enzymatic activities lead to accumulation of specific metabolites, which give rise to epigenetic changes in the genome that cause a characteristic hypermethylated phenotype. Tumors showing this phenotype, but no alterations in the known predisposing genes, could harbor...

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Identifiers

PMID: 28720665
DOI: 10.1158/1078-0432.CCR-16-2250

Genes

GOT2
IDH1
MDH2
RBP1
SDHC

Variants

Provenance

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