Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Diagnostic potential of TERT promoter and FGFR3 mutations in urinary cell-free DNA in upper tract urothelial carcinoma. 30887605 2019
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Very recently, erdafitinib, a pan-FGFR inhibitor, has been granted accelerated approval by FDA for platinum-pretreated advanced metastatic UC with susceptible FGFR3 or FGFR2 genetic alterations. 31030123 2019
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 AlteredExpression disease BEFREE Here we report several key insights from our molecular dissection of this disease: 1) Most UTUCs are luminal-papillary; 2) UTUC has a T-cell depleted immune contexture; 3) High FGFR3 expression is enriched in UTUC and correlates with its T-cell depleted immune microenvironment; 4) Sporadic UTUC is characterized by a lower total mutational burden than urothelial carcinoma of the bladder. 31278255 2019
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Activating mutations of fibroblast growth factor receptor 3 (FGFR3) are common in urothelial carcinoma of the bladder (UC). 30952872 2019
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 Biomarker disease BEFREE The frequency of FGFR3 aberrations was higher in bladder UC (25%) than in UC of the renal pelvis and ureter (18%) but the difference was not statistically significant (P = 0.444). 30064409 2018
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 AlteredExpression disease BEFREE The differential expression levels of FGFR3-AS1 and FGFR3 in tumor tissues and paired normal tissues were determined using Real-Time qPCR in a total of 36 patients diagnosed with bladder cancer (urothelial carcinoma). 29226855 2018
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 Biomarker disease BEFREE Absent clinical activity suggests that patient selection by pFGFR3 IHC alone does not enrich for response to FGFR3 kinase inhibitors in urothelial carcinoma.<i></i>. 27932416 2017
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 Biomarker disease BEFREE We argue that routine use of molecular genomic tumour analysis in UC may inform selection of patients for appropriate trials and we further investigate the potential of FGFR3 as a meaningful clinical target for this difficult disease. 27271022 2016
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE The aim of this study was to analyze the frequency and association of FGFR3 and RAS gene mutations in UC cases. 27356691 2016
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 Biomarker disease BEFREE FGFR3 immunohistochemistry staining is present in one third of primary muscle-invasive UCs and half of metastases, while FGFR3 mutations and copy number changes are relatively uncommon. 24846059 2014
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 Biomarker disease BEFREE Alterations in fibroblast growth factor receptor 3 (FGFR3) have been implicated in the pathogenesis of urothelial carcinoma. 24360661 2014
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE In this review, we discuss the biologic and prognostic impact of FGFR3 mutations in UC as well as FGFR3 as a potential target for novel therapeutics. 22285006 2013
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 Biomarker disease CTD_human Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. 24121792 2013
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE We determined whether FGFR3 mutation analysis of voided urine samples would be cost-effective to partly replace cystoscopy in the surveillance of patients treated for nonmuscle invasive urothelial carcinoma. 23142690 2013
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Mutations in FGFR3 are known to be associated with urothelial carcinoma and have a positive predictive value of 95% when detected in patients with no history of TCC. 22873290 2012
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE • Paraffin-embedded transurethral resection tissue from 113 patients with UC was investigated for the association of p85aPI3K, p-AKT, p-mTOR, p-p70S6K and p-4E-BP1 (eukaryotic initiation factor 4E-binding protein 1) expression status, as well as PIK3CA and AKT1 mutations with p-extracellular signal-regulated kinase 1/2 (ERK1/2), fibroblast growth factor receptor 3 (FGFR3), pathological features, recurrence and cancer-specific survival. 23107319 2012
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Somatic point mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in certain types of urological cancers, especially urothelial carcinoma of the bladder and the renal pelvis, and could be correlated with a favourable outcome. 22203473 2012
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE FGFR3 appears to be the most frequently mutated oncogene in transitional cell carcinoma; its mutation is strongly associated with low tumor grade, early stage, and low recurrence rate, which confer a better overall prognosis. 21106220 2011
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE These results indicate that inhibition of FGFR1 and wild-type or mutant FGFR3 may represent a useful therapeutic approach in patients with both non-muscle invasive and muscle invasive UC. 21119661 2011
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Several downstream targets of FGFR3 are also mutated in UC, e.g., PIK3CA, AKT1, and RAS. 21533174 2011
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Somatic mutation of fibroblast growth factor receptor-3 (FGFR3) defines a distinct morphological subtype of high-grade urothelial carcinoma. 21547910 2011
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE No mutations of FGFR3 in normal urothelium in the vicinity of urothelial carcinoma of the bladder harbouring activating FGFR3 mutations in patients with bladder cancer. 19621447 2009
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE FGFR3 is frequently activated by mutation in urothelial carcinoma (UC) and represents a potential target for therapy. 17668422 2007
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Somatic FGFR3 mutations have been reported in various cancers such as urothelial carcinoma. 17568799 2007
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.400 GeneticVariation disease BEFREE Recently, the same FGFR3 mutations known from skeletal dysplasia syndromes and urothelial carcinoma have been shown to cause benign human skin tumors such as seborrheic keratoses and epidermal nevi. 17172848 2006