Signaling by FGFR3 in disease
Yuan L, Liu Z, Lin Z, Xu L, Zhong Q, Zeng M. Recurrent FGFR3-TACC3 fusion gene in nasopharyngeal carcinoma. Cancer Biology & Therapy. 2014 Dec 02;15(12):1613–21. doi: 10.4161/15384047.2014.961874.; Singh P, Thomas GE, Gireesh KK, Manna TK. TACC3 Protein Regulates Microtubule Nucleation by Affecting ?-Tubulin Ring Complexes. Journal of Biological Chemistry. 2014 Nov;289(46):31719–35. doi: 10.1074/jbc.m114.575100.; Wang R, Wang L, Li Y, Hu H, Shen L, Shen X, Pan Y, Ye T, Zhang Y, Luo X, Zhang Y, Pan B, Li B, Li H, Zhang J, Pao W, Ji H, Sun Y, Chen H. FGFR1/3 tyrosine kinase fusions define a unique molecular subtype of non-small cell lung cancer. Clin Cancer Res. 2014 Aug 01;20(15):4107–14. doi: 10.1158/1078-0432.ccr-14-0284. PMID: 24850843.; Parker BC, Engels M, Annala M, Zhang W. Emergence of FGFR family gene fusions as therapeutic targets in a wide spectrum of solid tumours. The Journal of Pathology. 2013 Dec 06;232(1):4–15. doi: 10.1002/path.4297.; Wu YM, Su F, Kalyana-Sundaram S, Khazanov N, Ateeq B, Cao X, Lonigro RJ, Vats P, Wang R, Lin SF, Cheng AJ, Kunju LP, Siddiqui J, Tomlins SA, Wyngaard P, Sadis S, Roychowdhury S, Hussain MH, Feng FY, Zalupski MM, Talpaz M, Pienta KJ, Rhodes DR, Robinson DR, Chinnaiyan AM. Identification of targetable FGFR gene fusions in diverse cancers. Cancer Discov. 2013 Jun;3(6):636–47. PMID: 23558953; PMCID: PMC3694764.; Parker BC, Annala MJ, Cogdell DE, Granberg KJ, Sun Y, Ji P, Li X, Gumin J, Zheng H, Hu L, Yli-Harja O, Haapasalo H, Visakorpi T, Liu X, Liu CG, Sawaya R, Fuller GN, Chen K, Lang FF, Nykter M, Zhang W. The tumorigenic FGFR3-TACC3 gene fusion escapes miR-99a regulation in glioblastoma. J Clin Invest. 2013 Feb;123(2):855–65. PMID: 23298836; PMCID: PMC3561838.; Williams SV, Hurst CD, Knowles MA. Oncogenic FGFR3 gene fusions in bladder cancer. Hum Mol Genet. 2013 Feb 15;22(4):795–803. PMID: 23175443; PMCID: PMC3554204.; Wesche J, Haglund K, Haugsten EM. Fibroblast growth factors and their receptors in cancer. Biochem J. 2011 Jul 15;437(2):199–213. doi: 10.1042/bj20101603. PMID: 21711248.; di Martino E, L'Hôte CG, Kennedy W, Tomlinson DC, Knowles MA. Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. Oncogene. 2009 Dec 03;28(48):4306–16. PMID: 19749790; PMCID: PMC2789045.; Harada D, Yamanaka Y, Ueda K, Tanaka H, Seino Y. FGFR3-related dwarfism and cell signaling. Journal of Bone and Mineral Metabolism. 2008 Dec 09;27(1):9–15. doi: 10.1007/s00774-008-0009-7.; Ibrahimi OA, Zhang F, Eliseenkova AV, Itoh N, Linhardt RJ, Mohammadi M. Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. Hum Mol Genet. 2004 Oct 01;13(19):2313–24. PMID: 15282208; PMCID: PMC4140565.; Sibley K, Stern P, Knowles MA. Frequency of fibroblast growth factor receptor 3 mutations in sporadic tumours. Oncogene. 2001 Jul 19;20(32):4416–8. doi: 10.1038/sj.onc.1204543. PMID: 11466624.; Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA. Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype. The American Journal of Human Genetics. 2000 Dec;67(6):1411–21. doi: 10.1086/316892.; Cappellen D, De Oliveira C, Ricol D, de Medina S, Bourdin J, Sastre-Garau X, Chopin D, Thiery JP, Radvanyi F. Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. Nat Genet. 1999 Sep;23(1):18–20. doi: 10.1038/12615. PMID: 10471491.; Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJR, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am. J. Med. Genet. 1999 Jul 02;85(1):53–65. doi: 10.1002/(sici)1096-8628(19990702)85:1<53::aid-ajmg10>3.0.co;2-f.; Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA. A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene. The American Journal of Human Genetics. 1999 Mar;64(3):722–31. doi: 10.1086/302275.; Avet-Loiseau H, Li JY, Facon T, Brigaudeau C, Morineau N, Maloisel F, Rapp MJ, Talmant P, Trimoreau F, Jaccard A, Harousseau JL, Bataille R. High incidence of translocations t(11;14)(q13;q32) and t(4;14)(p16;q32) in patients with plasma cell malignancies. Cancer Res. 1998 Dec 15;58(24):5640–5. PMID: 9865713.; Burke D, Wilkes D, Blundell TL, Malcolm S. Fibroblast growth factor receptors: lessons from the genes. Trends Biochem Sci. 1998 Feb;23(2):59–62. doi: 10.1016/s0968-0004(97)01170-5. PMID: 9538690.; d'Avis PY, Robertson SC, Meyer AN, Bardwell WM, Webster MK, Donoghue DJ. Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I. Cell Growth Differ. 1998 Jan;9(1):71–8. PMID: 9438390.; Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet. 1997 Aug;34(8):632–6. PMID: 9279753; PMCID: PMC1051023.; Chesi M, Nardini E, Brents LA, Schröck E, Ried T, Kuehl WM, Bergsagel PL. Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nat Genet. 1997 Jul;16(3):260–4. PMID: 9207791; PMCID: PMC3901950.; Webster MK, Donoghue DJ. FGFR activation in skeletal disorders: too much of a good thing. Trends Genet. 1997 May;13(5):178–82. doi: 10.1016/s0168-9525(97)01131-1. PMID: 9154000.; Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet. 1996 Oct;14(2):174–6. doi: 10.1038/ng1096-174. PMID: 8841188.; Naski MC, Wang Q, Xu J, Ornitz DM. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet. 1996 Jun;13(2):233–7. doi: 10.1038/ng0696-233. PMID: 8640234.; Rousseau F, el Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet. 1996 Apr;5(4):509–12. doi: 10.1093/hmg/5.4.509. PMID: 8845844.; Tavormina PL, Rimoin DL, Cohn DH, Zhu YZ, Shiang R, Wasmuth JJ. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet. 1995 Nov;4(11):2175–7. doi: 10.1093/hmg/4.11.2175. PMID: 8589699.; Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet. 1995 Jul;10(3):357–9. doi: 10.1038/ng0795-357. PMID: 7670477.; Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet. 1995 May;10(1):11–2. doi: 10.1038/ng0595-11. PMID: 7647778.; Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet. 1995 Mar;9(3):321–8. doi: 10.1038/ng0395-321. PMID: 7773297.; Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995 Feb;56(2):368–73. PMID: 7847369; PMCID: PMC1801129.; Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature. 1994 Sep 15;371(6494):252–4. doi: 10.1038/371252a0. PMID: 8078586.; Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994 Jul 29;78(2):335–42. doi: 10.1016/0092-8674(94)90302-6. PMID: 7913883.