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FGFRs
Tuesday 25 November 2003
Definition: The Fibroblast Growth Factor Receptor (FGFR) family consists of Tyrosine Kinase Receptors (TKR) involved in several biological functions.
Alterations of FGFR have been reported to be important for progression and development of several cancers.
Most of the TKR share intracellular signaling pathways; therefore, cancer cells tend to overcome the inhibition of one tyrosine kinase receptor by activating another. T
Members
FGFR1 | FGFR2 | FGFR3 | FGFR4 |
Pathology
FGFR1
- germline mutations in
- Pfeiffer syndrome (MIM.101600)
- Kallmann syndrome with or without cleft palate (MIM.147950)
- FGFR1 rearrangement in proliferations
- BCR/FGFR1 by t(8;22)(p11;q11) in chronic myeloid leukemia
- CEP110/FGFR1 by t(8;9)(p12;q33) in stem cell myeloproliferative disorder (MPD) (10688839)
FGFR2
- germ-line mutations in Crouzon syndrome (MIM.123500)
- germ-line mutations in Apert syndrome (MIM.101200)
- germ-line mutations in Beare-Stevenson cutis gyrata syndrome (MIM.123790)
FGFR3
- constitutional activating mutations in
- several autosomal dominant craniosynostosis syndromes
- chondrodysplasias
- hypochondroplasia
- achondroplasia
- SADDAN
- thanatophoric dysplasia
-
somatic mutations in
- vesical carcinoma (bladder carcinoma)
- myeloma
- uterine cervical carcinoma
FGFR4
FGFRs mutations in osteoglophonic dysplasia
Paywall References
FGFR a promising druggable target in cancer: Molecular biology and new drugs.
Porta R, Borea R, Coelho A, Khan S, Araújo A, Reclusa P, Franchina T, Van Der Steen N, Van Dam P, Ferri J, Sirera R, Naing A, Hong D, Rolfo C.
Crit Rev Oncol Hematol. 2017 May;113:256-267. doi : 10.1016/j.critrevonc.2017.02.018
PMID: 28427515
Germline mutations in FGF receptors and medulloblastomas. Bourdeaut F, Miquel C, Di Rocco F, Grison C, Richer W, Brugieres L, Pierron G, James S, Baujat G, Delattre O, Collet C. Am J Med Genet A. 2013 Feb;161A(2):382-5. doi : 10.1002/ajmg.a.35719 PMID: 23325524
Coumoul X, Deng CX. Roles of FGF receptors in mammalian development and congenital diseases. Birth Defects Res Part C Embryo Today. 2003 Nov;69(4):286-304. PMID: 14745970
Webster MK, Donoghue DJ. FGFR activation in skeletal disorders: too much of a good thing. Trends Genet. 1997 May;13(5):178-82. PMID: 9154000
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