Article
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
European journal of human genetics : EJHG - 1 Jan 2008
Pasini Barbara, McWhinney Sarah R, Bei Thalia, Matyakhina Ludmila, Stergiopoulos Sotirios, Muchow Michael, Boikos Sosipatros A, Ferrando Barbara, Pacak Karel, Assie Guillaume, Baudin Eric, Chompret Agnes, Ellison Jay W, Briere Jean-Jacques, Rustin Pierre, Gimenez-Roqueplo Anne-Paule, Eng Charis, Carney J Aidan, Stratakis Constantine A
Abstract excerpt
Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the KIT and platelet-derived growth factor receptor-alpha (PDGFRA) genes and treated by Imatinib mesylate (STI571) or other protein tyrosine kinase inhibitors. However, not all GISTs harbor these genetic defects and several do not respond to STI571 suggesting that other molecular mechanisms may be implicated in GIST pathogenesis. In a...
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