FGFR4 mutant receptor activation

Stable Identifier
Homo sapiens
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FGFR4 is perhaps the least well studied of the FGF receptors, and unlike the case for the other FGFR genes, mutations in FGFR4 are not known to be associated with any developmental disorders. Recently, however, somatically arising mutations in the FGFR4 coding sequence have begun to be identified in some cancers. (Taylor, 2009; Ruhe, 2007; Roidl, 2010). The resulting mutant versions of FGFR4 promote aberrant signaling through ligand-independent dimerization and enhanced autophosphorylation, among other mechanisms (Roidl, 2009; Taylor, 2009).
Literature References
PubMed ID Title Journal Year
19946327 The FGFR4 Y367C mutant is a dominant oncogene in MDA-MB453 breast cancer cells

Hart, S, Streit, S, Bechtold, S, Berger, HJ, Foo, P, Mann, C, Ullrich, A, Ruhe, JE, Roidl, A, Ho, HK, Wong, W

Oncogene 2010
18056464 Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines

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

Cancer Res 2007
19809159 Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models

Chanock, SJ, Cheuk, AT, Catchpoole, D, Desai, K, Chung, JY, Chen, QR, Hewitt, SM, Fang, J, Helman, LJ, Khan, J, Kim, S, Merlino, G, Khanna, C, Mendoza, A, Ngo, V, Tsang, PS, Staudt, LM, Taylor JG, 6th, Song, YK, Shah, K, Qualman, SJ, Wei, JS, Yeung, C, Youngblood, V, Yu, Y

J Clin Invest 2009
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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