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 GeneticVariation disease LHGDN We investigated the presence of FGFR3 expression and activating mutations in a series of newly diagnosed MM patients. 12368157 2002
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 AlteredExpression disease LHGDN A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. 12433679 2003
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 CausalMutation disease CGI
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease CTD_human Discovery of 3-(2,6-dichloro-3,5-dimethoxy-phenyl)-1-{6-[4-(4-ethyl-piperazin-1-yl)-phenylamino]-pyrimidin-4-yl}-1-methyl-urea (NVP-BGJ398), a potent and selective inhibitor of the fibroblast growth factor receptor family of receptor tyrosine kinase. 21936542 2011
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 CausalMutation disease CLINVAR
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 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 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 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 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 GeneticVariation disease BEFREE A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. 12433679 2003
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 AlteredExpression disease BEFREE Thalidomide consolidation improves progression-free survival in myeloma with normal but not up-regulated expression of fibroblast growth factor receptor 3: analysis from the Australasian Leukaemia and Lymphoma Group MM6 clinical trial. 22329352 2012
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE The identification of these overlapping sets of co-modulated tyrosine phosphorylations presents an outline of an FGFR3 network in the MM model and demonstrates the potential for pharmacodynamic monitoring by label-free quantitative phospho-proteomics. 19901323 2009
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE Finally, using a mouse model of FGFR3 myeloma, we demonstrate a delay in tumor progression and prolonged survival of mice treated with PD173074. 14715624 2004
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 AlteredExpression disease BEFREE Translocation t(4;14) is observed in about 15% of patients with MM leading to constitutive activation of FGFR3 in two-thirds of these patients. 30349651 2018
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 AlteredExpression disease BEFREE To detect FGFR3 protein expression, bone marrow (BM) aspirate from 200 consecutive newly diagnosed (n = 116) or relapsing (n = 74) MM patients was studied by flow cytometry (FC) using anti-CD138 and anti-FGFR3 antibodies. 17223917 2007
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE Expression of fibroblast growth factor receptor 3 (FGFR3), presumptively dysregulated on der(14), was detected by RT-PCR in only 23 of 31 (74%) patients with t(4;14)(+) MM. 12393535 2003
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE Findings from multiple myeloma (MM) indicate that FGFR3 also can act as an oncogene, and mutation of codon 249 in the fibroblast growth factor receptor 3 (FGFR3) gene was recently detected in 3/12 primary cervical carcinomas. 11904459 2001
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 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 Frequent FGFR3 kinase activating mutations in MM with t(4;14) translocations substantiate an oncogenic role for FGFR3. 9787135 1998
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE Bortezomib, dexamethasone, and fibroblast growth factor receptor 3-specific tyrosine kinase inhibitor in t(4;14) myeloma. 19147757 2009