description
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. 8% of rhabdomyosarcomas have activating mutations in the kinase domain of FGFR4. Two of these mutations - N535K (paralogous to the FGFR2 N550K allele found in endometrial cancers) and V550E - have been shown to support the oncogenic transformation of NIH 3T3 cells (Taylor, 2009). An FGFR4 Y367C mutation has also been identified in breast cancers (Ruhe, 2007; Roidl, 2010); mutations of paralogous residues in FGFR2 and FGFR3 are associated with both skeletal dysplasias and the development of diverse cancers (Pollock, 2007; Ruhe, 2007; Rousseau, 1996; Chesi, 1997, 2001).Finally, a SNP at position 388 of FGFR4 is associated with aggressive disease development. Expression of the G388R allele in breast, colorectal and prostate cancers is correlated with rapid progression times and increased rates of recurrence and metastasis (Bange, 2002; Spinola, 2005; Wang, 2004)

external resources
NCBI:1268877
REACTOME:R-HSA-5655291
PUBMED:15448004
PUBMED:19809159
PUBMED:8845844
PUBMED:11830541
PUBMED:16012724
PUBMED:17525745
PUBMED:18056464
PUBMED:9207791
PUBMED:19946327
PUBMED:11157491

genes
FGFR4 , GAB1 , GRB2 , HRAS , KRAS , NRAS , PIK3CA , PIK3R1 , PLCG1 , SOS1 , FRS2 ,