Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE A simple and fast method for the simultaneous detection of nine fibroblast growth factor receptor 3 mutations in bladder cancer and voided urine. 16278395 2005
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE Somatic mutations of FGFR3 have been identified in bladder cancer, multiple myeloma, and other neoplasms. 16778799 2006
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE Activating mutations of FGFR3 are a common and early event in bladder cancer. 25223521 2015
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE Analysing only previously reported point mutations, TERT mutations were found in 55% of patients with bladder cancer (independent of stage), FGFR3 mutations in 30% of patients with bladder cancer, PIK3CA in 14% and TP53 mutations in 12% of patients with bladder cancer. 26901314 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE In view of these findings, the authors investigated the incidence of TD mutations in the FGFR3 gene in a large series of bladder carcinomas to clarify their role in the progression of bladder carcinoma. 11745189 2001
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE We conclude that FGFR3 is commonly mutated in bladder carcinoma and only rarely in cervical carcinoma. 11466624 2001
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE We carried out a meta-analysis of published findings for FGFR3 and TP53 mutations in bladder cancer (535 tumours, 6 publications) and additional unpublished data for 382 tumours. 23272046 2012
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE In non-invasive BC, these mutations were related to high risk and grade (p<0.0001) as well as progression to muscle-invasive disease (p=0.01), whereas FGFR3 mutations were observed in low-grade BC (p=0.02) and patients with recurrences (p=0.05). 27611947 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE FGFR3 and Tp53 mutations have been proposed as defining two alternative pathways in the pathogenesis of transitional bladder cancer. 16061860 2005
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer. 30975452 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE Oncogenic FGFR3 gene fusions in bladder cancer. 23175443 2013
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE FGFR3 mutations are common in low-grade BC, while TP53 mutation or loss of RB1 is associated with muscle-invasive BC. 26924873 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC. 20348956 2010
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE Search terms included 'FGFR3 genomic alterations' and 'urothelial cancer' or 'bladder cancer'. 27271022 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE We analyzed the possible prognostic value of the recently discovered fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer. 11245416 2001
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE The detection of FGFR3 mutations in FUH further supports the role of this lesion as precursor of papillary bladder cancer. 16570285 2006
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE 1-tert-butyl-3-[6-(3,5-dimethoxy-phenyl)-2-(4-diethylamino-butylamino)-pyrido[2,3-d]pyrimidin-7-yl]-urea (PD173074), a selective tyrosine kinase inhibitor of fibroblast growth factor receptor-3 (FGFR3), inhibits cell proliferation of bladder cancer carrying the FGFR3 gene mutation along with up-regulation of p27/Kip1 and G1/G0 arrest. 19955487 2010
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE When we examined detailed data on a prevalent occupational exposure associated with increased bladder cancer risk, straight metalworking fluids, we also observed statistically significant additive interaction for rs798766 (TMEM129-TACC3-FGFR3, P interaction = .02), with the interaction more apparent in patients with tumors positive for FGFR3 expression.All statistical tests were two-sided. 26374428 2015
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE Recent developments in the field of molecular mutational pathway analyses based on next generation sequencing technology together with classic data derived from the description of mutations in the FGFR3 (fibroblast growth factor receptor 3) gene, mutations on TP53 gene, and cDNA technology profiling data gives support to a differentiated taxonomy of bladder cancer. 25654736 2015
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE The aim of this review was to overview the outcomes of different mutations in FGFR3 receptor in the context of BC. 26542242 2015
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE We assessed the performance of associating a FGFR3 mutation assay and a DNA methylation analysis to improve bladder cancer detection and to predict disease recurrence of NMIBC patients. 27586786 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE The two most important developments are the identification of a mutation in the fibroblast growth factor receptor 3 gene in more than 50% of urothelial carcinomas and the discovery of cDNA profiles characteristic of different subsets of bladder cancer. 19031931 2009
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE Plasma 25-hydroxyvitamin D(3) and bladder cancer risk according to tumor stage and FGFR3 status: a mechanism-based epidemiological study. 23108201 2012
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease BEFREE The FGFR3<sup>S249C</sup> mutation may therefore be used as a predictor of chemosensitivity in patients with BCa. 31316618 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014