Reactome: A Curated Pathway Database

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
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
bone development disease 0080006
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]