Pathway
Signaling by FGFR2 in disease
The FGFR2 gene has been shown to be subject to activating mutations and gene amplification leading to a variety of proliferative and developmental disorders depending on whether these events occur in the germline or arise somatically. Activating FGFR2 mutations in the germline give rise to a range of craniosynostotic conditions including Pfeiffer, Apert, Jackson-Weiss, Crouzon and Beare-Stevensen Cutis Gyrata syndromes. These autosomal dominant skeletal disorders are characterized by premature fusion of several sutures in the skull, and in some cases also involve syndactyly (abnormal bone fusions in the hands and feet) (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007).
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Activating FGFR2 mutations arising somatically have been linked to the development of gastric and endometrial cancers (reviewed in Greulich and Pollock, 2011; Wesche, 2011). Many of these mutations are similar or identical to those that contribute to the autosomal disorders described above. Notably, loss-of-function mutations in FGFR2 have also been recently described in melanoma. FGFR2 may also contribute to tumorigenesis through overexpression, as FGFR2 has been identified as a target of gene amplification in gastric and breast cancers.
What the reference databases state
Statements
38 statements
38 statements · 1 reference database · Subject: Signaling by FGFR2 in disease · Sources: Reactome
- FGF1 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF10 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF16 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF18 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF2 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF20 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF22 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF23 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF3 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF4 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF6 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGF7 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
Show the remaining 26
- FGF9 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FGFR2 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- FRS2 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- GAB1 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- GTF2F1 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- GTF2F2 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- HRAS participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- NCBP1 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- NCBP2 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- NRAS participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- PIK3CA participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- PIK3R1 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- PLCG1 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2A participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2B participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2C participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2D participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2E participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2F participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2G participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2H participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2I participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2J participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2K participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- POLR2L participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only
- SOS1 participates in Signaling by FGFR2 in diseaseProteinReactome R-HSA-5655253Inferred only