FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE From a clinical standpoint, it is critical to identify MM patients carrying the t(4;14) translocation, which is present in 15% of myelomas and is associated with dysregulation of WHSC1/MMSET and often FGFR3. 22160056 2011
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 AlteredExpression disease BEFREE High levels of FGFR3 mRNA expression were observed in the cloned MM tumors and KMS-11 cell line, but not in the cases that were apparently negative for this lesion. 9354676 1997
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE Immunohistochemistry accurately predicts FGFR3 aberrant expression and t(4;14) in multiple myeloma. 15761022 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE In addition, histone deacetylase inhibitors are already in use for the treatment of MM in combination therapy, and targeted inhibition of FGFR3 (AZD4547) is effective in myeloma cells with t(4;14) translocation. 31036508 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE In this study, the prognostic significance of morphology, CyclinD1 expression, proliferation index (Mib1) and presence of the translocations FGFR3/IgH [t(4;14)] and CCND1/IgH [t(11;14)] are compared in 119 patients with PM. 17460451 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 AlteredExpression disease BEFREE Markedly increased MMSET expression was found in 1 MM showing associated FGFR3 and MMSET signals on an unidentified chromosome. 15543617 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas. 10918587 2000
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Mutations in FGFR3 have been identified in several tumour types including bladder carcinoma, cervical carcinoma, and multiple myeloma. 11466624 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Nearly 40% of MM tumors have immunoglobulin H (IgH) translocations involving four recurrent chromosomal loci (oncogenes): 11q13 (cyclin D1), 6p21 (cyclin D3), 4p16 (MMSET and FGFR3), and 16q23 (c-maf). 12846810 2003
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE Nearly half of these tumors are nonhyperdiploid and mostly have immunoglobulin H (IgH) translocations that involve 5 recurrent chromosomal loci, including 11q13 (cyclin D1), 6p21 (cyclin D3), 4p16 (fibroblast growth factor receptor 3 [FGFR3] and multiple myeloma SET domain [MMSET]), 16q23 (c-maf), and 20q11 (mafB). 15090448 2004
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE New information regarding FGFR3 as an oncogene as well as how activating mutations may contribute to disease evolution and may be an important target for novel therapeutics of MM is presented. 11722983 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Our data indicates that Y373C mutation and wild-type FGFR3 may be associated with bortezomib-related treatment resistance in multiple myeloma. 19331127 2009
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Our results indicate that FGFR3 mutations occur in only a small fraction of MM cases with t(4;14). 11529856 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 AlteredExpression disease BEFREE Overexpression of the myeloma-associated oncogene FGFR3, which upregulates bcl-x(L), delayed but did not prevent caspase-3-mediated killing. 12907145 2003
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 AlteredExpression disease BEFREE Previously, we showed that expression of myeloma-associated (proto)oncogene fibroblast growth factor receptor 3 (FGFR-3) is increased in white blood cells from patients with chronic myeloid leukemia (CML). 14562121 2003
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE Protein Expression for Novel Prognostic Markers (Cyclins D1, D2, D3, B1, B2, ITGβ7, FGFR3, PAX5) Correlate With Previously Reported Gene Expression Profile Patterns in Plasma Cell Myeloma. 25265432 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Recently, activating FGFR3 mutations have also been found to be present in cancer, i.e. at high frequency in carcinoma of the bladder and rarely in multiple myeloma and carcinoma of the cervix. 12461689 2002
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Reciprocal IGH/14q32 translocations are detectable in 55-70% of patients with plasma cell myeloma; e.g., the adverse t(4;14)(p16;q32) fusing the IGH and FGFR3 genes (immunoglobulin heavy chain/fibroblast growth factor receptor 3). 20620602 2010
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE Ribosomal protein metallopanstimulin-1 impairs multiple myeloma CAG cells growth and inhibits fibroblast growth factor receptor 3. 21889435 2011
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease LHGDN Ribozyme cleavage leads to decreased expression of fibroblast growth factor receptor 3 in human multiple myeloma cells, which is associated with apoptosis and downregulation of vascular endothelial growth factor. 15788896 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Simultaneous translocations of FGFR3/MMSET and CCND1 into two different IGH alleles in multiple myeloma: lack of concurrent activation of both proto-oncogenes. 17498561 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Since cell lines may represent useful models for investigating the effects of deregulated FGFR3 mutants in MM, we analysed the expression, activation, signaling pathways and oncogenic potential of three mutants identified so far: the Y373C and K650E in the KMS-11 and OPM-2 cell lines respectively, and the novel G384D mutation here identified in the KMS-18 cell line. 11429702 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation disease BEFREE Somatic FGFR3 mutations have been identified in several cancer entities such as urothelial carcinoma and multiple myeloma. 17172848 2006
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 PosttranslationalModification disease BEFREE SU5402 inhibited FGFR3 phosphorylation in vitro and in murine MM tumour models. 14871245 2004