Signaling by activated point mutants of FGFR1

Stable Identifier
R-HSA-1839122
Type
Pathway
Species
Homo sapiens
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Unlike FGFR2 and FGFR3, FGFR1 appears not to be a frequent target of activating point mutations (reviewed in Wesche, 2011; Turner and Grose, 2010). Germline point mutations at residue P252 have been identified in Pfeiffer syndrome (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007) while mutation of the same residue arising somatically has been identified in melanoma and lung cancer (Ruhe, 2007; Davies, 2005). Two kinase domain mutations have been characterized in glioblastoma (Rand, 2005; Network TCGA, 2008), both at positions that are also mutated in an autosomal disorder in one of the FGFR family members (Muenke, 1994; Bellus, 1995a; Bellus, 2000; Tavormina, 1995a; Tavormina, 1999).

Literature References
PubMed ID Title Journal Year
9154000 FGFR activation in skeletal disorders: too much of a good thing

Webster, MK, Donoghue, DJ

Trends Genet 1997
18772890 Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Cancer Genome Atlas Research, Network

Nature 2008
7773297 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Tavormina, PL, Shiang, R, Thompson, LM, Zhu, YZ, Wilkin, DJ, Lachman, RS, Wilcox, WR, Rimoin, DL, Cohn, DH, Wasmuth, JJ

Nat Genet 1995
16140923 Somatic mutations of the protein kinase gene family in human lung cancer

Davies, H, Hunter, C, Smith, R, Stephens, P, Greenman, C, Bignell, G, Teague, J, Butler, A, Edkins, S, Stevens, C, Parker, A, O'Meara, S, Avis, T, Barthorpe, S, Brackenbury, L, Buck, G, Clements, J, Cole, J, Dicks, E, Edwards, K, Forbes, S, Gorton, M, Gray, K, Halliday, K, Harrison, R, Hills, K, Hinton, J, Jones, D, Kosmidou, V, Laman, R, Lugg, R, Menzies, A, Perry, J, Petty, R, Raine, K, Shepherd, R, Small, A, Solomon, H, Stephens, Y, Tofts, C, Varian, J, Webb, A, West, S, Widaa, S, Yates, A, Brasseur, F, Cooper, CS, Flanagan, AM, Green, A, Knowles, M, Leung, SY, Looijenga, LH, Malkowicz, B, Pierotti, MA, Teh, BT, Yuen, ST, Lakhani, SR, Easton, DF, Weber, BL, Goldstraw, P, Nicholson, AG, Wooster, R, Stratton, MR, Futreal, PA

Cancer Res 2005
9538690 Fibroblast growth factor receptors: lessons from the genes

Burke, D, Wilkes, D, Blundell, TL, Malcolm, S

Trends Biochem Sci 1998
21711248 Fibroblast growth factors and their receptors in cancer

Wesche, J, Haglund, K, Haugsten, EM

Biochem J 2011
7874169 A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Muenke, M, Schell, U, Hehr, A, Robin, NH, Losken, HW, Schinzel, A, Pulleyn, LJ, Rutland, P, Reardon, W, Malcolm, S

Nat Genet 1994
20094046 Fibroblast growth factor signalling: from development to cancer

Turner, N, Grose, RP

Nat Rev Cancer 2010
7670477 A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Bellus, GA, McIntosh, I, Smith, EA, Aylsworth, AS, Kaitila, I, Horton, WA, Greenhaw, GA, Hecht, JT, Francomano, CA

Nat Genet 1995
10053006 A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

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

Am J Hum Genet 1999
17552943 Syndromic craniosynostosis: from history to hydrogen bonds

Cunningham, ML, Seto, ML, Ratisoontorn, C, Heike, CL, Hing, AV

Orthod Craniofac Res 2007
16186508 Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas

Rand, V, Huang, J, Stockwell, T, Ferriera, S, Buzko, O, Levy, S, Busam, D, Li, K, Edwards, JB, Eberhart, C, Murphy, KM, Tsiamouri, A, Beeson, K, Simpson, AJ, Venter, JC, Riggins, GJ, Strausberg, RL

Proc Natl Acad Sci U S A 2005
18056464 Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines

Ruhe, JE, Streit, S, Hart, S, Wong, CH, Specht, K, Knyazev, P, Knyazeva, T, Tay, LS, Loo, HL, Foo, P, Wong, W, Pok, S, Lim, SJ, Ong, H, Luo, M, Ho, HK, Peng, K, Lee, TC, Bezler, M, Mann, C, Gaertner, S, Hoefler, H, Iacobelli, S, Peter, S, Tay, A, Brenner, S, Venkatesh, B, Ullrich, A

Cancer Res 2007
11055896 Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

Bellus, GA, Spector, EB, Speiser, PW, Weaver, CA, Garber, AT, Bryke, CR, Israel, J, Rosengren, SS, Webster, MK, Donoghue, DJ, Francomano, CA

Am J Hum Genet 2000
Participants
Participant Of
Disease
Name Identifier Synonyms
bone development disease 0080006
cancer 162 malignant tumor, malignant neoplasm, primary cancer
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