FGFR1 mutant receptor activation

Stable Identifier
R-HSA-1839124
Type
Pathway
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Summation

The FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on whether these events occur in the germline or arise somatically (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007; Wesche, 2011; Greulich and Pollock, 2011). Many of the resulting mutant FGFR1 proteins can dimerize and promote signaling in a ligand-independent fashion, although signal transduction may still be amplified in the presence of ligand (reviewed in Turner and Gross, 2010; Greulich and Pollock, 2011; Wesche et al, 2011).

Literature References
PubMed ID Title Journal Year
9154000 FGFR activation in skeletal disorders: too much of a good thing

Webster, MK, Donoghue, DJ

Trends Genet 1997
21367659 Targeting mutant fibroblast growth factor receptors in cancer

Greulich, H, Pollock, PM

Trends Mol Med 2011
17552943 Syndromic craniosynostosis: from history to hydrogen bonds

Cunningham, ML, Seto, ML, Ratisoontorn, C, Heike, CL, Hing, AV

Orthod Craniofac Res 2007
9538690 Fibroblast growth factor receptors: lessons from the genes

Burke, D, Wilkes, D, Blundell, TL, Malcolm, S

Trends Biochem Sci 1998
21711248 Fibroblast growth factors and their receptors in cancer

Wesche, J, Haglund, K, Haugsten, EM

Biochem J 2011
20094046 Fibroblast growth factor signalling: from development to cancer

Turner, N, Grose, RP

Nat Rev Cancer 2010
Participants
Participant Of
Disease
Name Identifier Synonyms
bone development disease 0080006
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Authored
Reviewed