Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking <i>KIT</i> and <i>PDGFRA</i> mutations

A. Janeway, Katherine; Young Kim, Su; Lodish, Maya; Nosé, Vânia; Rustin, Pierre; Gaal, José; L. M. Dahia, Patricia; Liegl, Bernadette; Ball, Evan; Raygada, Margarita; H. Lai, Angela; Kelly, Lorna; L. Hornick, Jason; J. O’Sullivan, Maureen; R. de Krijger, Ronald; N.M. Dinjens, Winand; D. Demetri, George; R. Antonescu, Cristina; A. Fletcher, Jonathan; J. Helman, Lee; A. Stratakis, Constantine

doi:10.1073/pnas.1009199108

Public

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

Published in Proceedings of the National Academy of Sciences • Dec 20, 2010

Authors:

Katherine A. Janeway

Su Young Kim

Maya Lodish

Abstract

Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C, or D, leading to dysfunction of complex II of the electron transport chain. ...

Subject

PDGFRA

Stromal cell

Cancer research

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