Article
IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors.
Human mutation - 1 Jan 2009
Bleeker Fonnet E, Lamba Simona, Leenstra Sieger, Troost Dirk, Hulsebos Theo, Vandertop W Peter, Frattini Milo, Molinari Francesca, Knowles Margaret, Cerrato Aniello, Rodolfo Monica, Scarpa Aldo, Felicioni Lara, Buttitta Fiamma, Malatesta Sara, Marchetti Antonio, Bardelli Alberto
Abstract excerpt
Systematic sequence profiling of the Glioblastoma Multiforme (GBM) genome has recently led to the identification of somatic mutations in the isocitrate dehydrogenase 1 (IDH1) gene. Interestingly, only the evolutionarily conserved residue R132 located in the substrate binding site of IDH1 was found mutated in GBM. At present, the occurrence and the relevance of p.R132 (IDH1(R132)) variants in tumors other than...
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