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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





  • 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)


  • 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)


  • 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


- 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, Ara├║jo 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