FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Multiple Myeloma ×
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 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 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 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 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 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 Among recurrent IGH translocations in MM, the frequency of t(4;14) (IGH and FGFR3) or t(11;14) (IGH and CCND1) is greater than the frequency of t(14;16) (IGH and MAF). 23460268 2013
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 GeneticVariation disease BEFREE The karyotypically silent t(4;14)(p16.3;q32) translocation can be found in approximately 15-20% of multiple myeloma (MM) patients and results in the ectopic expression of fibroblast growth factor receptor 3 (FGFR3) from der4. 12368157 2002
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 The ectopically expressed fibroblast growth factor receptor 3 (FGFR3) and its constitutively active mutations have been detected in patients with multiple myeloma (MM). 21273588 2011
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 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 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 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 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 The t(4;14)(p16;q32) translocation seen in c. 18% of newly diagnosed multiple myeloma (MM) cases, results in FGFR3 activation and creation of an IGH/MMSET fusion transcript. 15198734 2004
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 GeneticVariation disease BEFREE FGFR3 mutation analysis revealed no mutations in the presenting myeloma or MGUS samples. 12139740 2002
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 GeneticVariation disease BEFREE Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. 9207791 1997
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 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 GeneticVariation disease BEFREE This study demonstrated that CCND1 and FGFR3 genes are involved together in about 50% of MM and primary PCL patients with illegitimate IGH rearrangements. 9865713 1998
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 GeneticVariation disease BEFREE The identification in multiple myeloma and in two epithelial cancers-bladder and cervical carcinomas-of somatic FGFR3 mutations identical to the germinal activating mutations found in skeletal dysplasias, together with functional studies, have suggested an oncogenic role for this receptor. 15772091 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 GeneticVariation disease BEFREE The IGH deletions were found in 7 MM analyzed with the FGFR3-IGH probe and all confirmed by the IGH break-apart probe. 29040969 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 GeneticVariation disease BEFREE We and others have recently identified a novel recurring t(4;14)(p16.3; q32) translocation in multiple myeloma (MM) that leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes. 10945609 2000