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 CausalMutation disease CGI
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 CausalMutation disease CLINVAR
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 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 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 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 Biomarker disease BEFREE These findings provide a rational explanation for the mechanism by which FGFR3 contributes to both the viability and propagation of the myeloma clone and provide a basis for the development of therapies targeting this pathway. 10648414 2000
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 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
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 AlteredExpression disease BEFREE The presence of switch translocations was supported by demonstrating up-regulated expression in myeloma marrow of cyclin D1 and fibroblast growth factor receptor 3 (FGFR3), candidate oncogenes on chromosomes 11q13 and 4p16, respectively. 11154227 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 AlteredExpression disease BEFREE Thus, FGFR3, when overexpressed in MM, may be not only oncogenic when stimulated by FGF ligands in the bone marrow microenvironment, but is also a target for activating mutations that enable FGFR3 to play a ras-like role in tumor progression. 11157491 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE The myeloma-associated oncogene fibroblast growth factor receptor 3 is transforming in hematopoietic cells. 11290605 2001
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 Biomarker disease BEFREE There is a promiscuous array of nonrandom chromosomal partners (and oncogenes), with the 3 most frequent partners (11q13 [cyclin D1]; 4p16 [FGFR3 and MMSET]; 16q23 [c-maf]) involved in nearly half of MM tumors. 11418483 2001
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 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 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 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 AlteredExpression disease BEFREE 14.5% (16/110) of MM BM samples showed dysregulated FGFR3 expression. 12028033 2002
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 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 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 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 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 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