Dimerization of FGFR1 point mutants with enhanced kinase activity

Stable Identifier
Reaction [transition]
Homo sapiens
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Large scale genomic characterization of glioblastoma tumors has identified three point mutants in the kinase domain of FGFR1: N546K, R576W and K656E (Rand, 2005, TCGA, 2008), representing the first kinase domain point mutants identified in this gene in any cancer. These mutants are believed or have been shown to have enhanced kinase activity and to be able to function in a ligand-independent manner (Petiot, 2002; Lew, 2009; Raffioni, 1998, Rand, 2005; Hart, 2000)

Literature References
PubMed ID Title Journal Year
18772890 Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Cancer Genome Atlas Research Network, -

Nature 2008
19224897 The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations

Schlessinger, J, Furdui, CM, Anderson, KS, Lew, ED

Sci Signal 2009
9857065 Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation

Thompson, LM, Raffioni, S, Bradshaw, RA, Zhu, YZ

J Biol Chem 1998
10918587 Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4

Tynan, JA, Donoghue, DJ, Hart, KC, Kanemitsu, MY, Robertson, SC, Meyer, AN

Oncogene 2000
16186508 Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas

Li, K, Levy, S, Riggins, GJ, Stockwell, T, Tsiamouri, A, Ferriera, S, Edwards, JB, Beeson, K, Rand, V, Eberhart, C, Busam, D, Strausberg, RL, Venter, JC, Murphy, KM, Simpson, AJ, Huang, J, Buzko, O

Proc Natl Acad Sci U S A 2005
12112473 Induction of chondrogenesis in neural crest cells by mutant fibroblast growth factor receptors

Chan, CT, Petiot, A, Copp, AJ, Ferretti, P

Dev Dyn 2002
Functional status

Gain of function of FGFR1 mutants with enhanced kinase activity [plasma membrane]

Disease Entity
Name Identifier Synonyms
glioblastoma DOID:3068 spongioblastoma multiforme, Spongioblastoma multiforme, primary glioblastoma multiforme, Glioblastoma multiforme, Glioblastoma (morphologic abnormality), GBM (Glioblastoma), Glioblastoma NOS (morphologic abnormality)
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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