FGFR2


Also found in: Acronyms, Encyclopedia.

FGFR2

A gene on chromosome 10q25.3-q26 that encodes fibroblast growth factor receptor-3, which has an extracellular region composed of 3 immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Binding of a ligand unleashes a cascade of downstream signals that impact on mitogenesis and differentiation.

Molecular pathology
FGFR3 mutations are associated with Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome and syndromic craniosynostosis.
References in periodicals archive ?
A partir de las muestras de sangre se realizo la extraccion del ADN, por medio del metodo Salting-out, seguido esto de la amplificacion por PCR de los exones 8, 9 y 10 del gen FGFR2.
The aim of this study was to determine the localization of FGFR1 and FGFR2 in the mouse testes during postnatal development, and to elucidate the effect of each Fgfr1 and Fgfr2 on spermatogenesis and fertility using mouse models with postnatal germ cell-specific deletion.
FGF9 has been shown to interact with only FGFR2 and FGFR3, whereas FGFI and FGF8 can activate all four FGFRs (Table 1; Ornitz et al.
Estas malformaciones pueden confirmarse con la realizacion de ecografia tridimensional, resonancia magnetica nuclear (18) y la realizacion de una prueba genetica que demuestre la mutacion en el gen FGFR2.
Other groups (29,30,34,35) also found other targetable pathways in TNBCs, such as FGFR2 gene amplification.
For example, the regex for the FGFR2 (fibroblast growth factor receptor 2) variant S267_D273dup would be:
The agents include: a selective small molecule panFGFR1-3 kinase inhibitor (BAY 1163877); an anti-FGFR2 monoclonal antibody (BAY 1179470), as well as an FGFR2 antibody-drug conjugate (ADC).
One group comprised regulators that were predicted to be inhibited, including TGFP, BMP2/4, WNT1/3A, FGFR2 (fibroblast growth factor receptor 2), NFkB (nuclear factor kappa B), NKX2-5, Hedgehog, and a few others that regulate differentiation pathways.
The differences in the EDAR and FGFR2 genes were identified last year and are thought to have occurred as part of the evolution of Asian populations following their prehistoric divergence from Europeans.
The majority of family clusters are not attributable to any of these high-risk susceptibility genes and attention has recently turned to 'low-risk' genes such as FGFR2 and TNCR9, which may collectively be responsible for up to 25% of familial breast cancer [32].
Findings from AVEO's work on the FGFR pathway, which strongly support the belief that FGFR2 plays an essential role in the initiation and/or maintenance of human cancers harboring FGFR2 amplification, were highlighted in a poster presentation earlier this week titled, "Essential role of fibroblast growth factor receptor 2 (FGFR2) in tumorigenesis of human cancers harboring FGFR2 amplification demonstrated by a functional blocking antibody.
Its lead candidate is infigratinib, a best-in-class FGFR kinase inhibitor that has shown meaningful clinical activity in chemotherapy-refractory cholangiocarcinoma with FGFR2 fusions.