| FGFR3 R248C14 |
|---|
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 5 | accepted | EID8946In BaF3 cells, the R248C mutant was shown to fully activate FGFR3 with complete independence of the ligand presence. Ligand independent activation was determined by proliferation, phosphorylation, and… (full text at CIViC) PMID 8640234 · Naski et al., 1996 · Open in CIViC | civic |
| (oncogenic) | Lung Squamous Cell Carcinoma | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID7940NIH-3T3 cells with the FGFR3 R248C extracellular domain mutation demonstrated an increase in colony formation compared to wild-type in an anchorage-independence assay, which was counteracted by treatm… (full text at CIViC) PMID 23786770 · Liao et al., 2013 · Open in CIViC | civic |
| 〃 | Squamous Cell Carcinoma | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID8320Expression of FGFR3 carrying the p.Arg248Cys variant in HEK293 cells resulted in increased phospho-ERK, indicating activation of the MAP Kinase pathway. Expression of FGFR3 p.Arg248Cys in a human kera… (full text at CIViC) PMID 24626198 · Duperret et al., 2014 · Open in CIViC | civic |
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 3 | submitted | EID1041339 common nonepidermolytic, nonorganoid keratinocyte epidermal nevi were sampled from 33 patients and analyzed using a SNaPshot assay. FGFR3 R248C was found in 15/39 samples and 9/33 patients. The two… (full text at CIViC) PMID 16841094 · Hafner et al., 2006 · Open in CIViC | civic |
| (oncogenic) | Malignant NeoplasmALIAS | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12841The extracellular domain mutation R248C was tested in a series of assays for an evaluation of oncogenicity.
R248C was stably transfected into 3T3 cells along with WT controls.
TAS (Transformation Ac… (full text at CIViC) PMID 34272467 · Nakamura et al., 2021 · Open in CIViC | civic |
| 〃 | Bladder Carcinoma | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID10387FGFR3 R248C promoted FGF1 and IL-3 independent cell proliferation when transduced into Ba/F3 cells whereas Ba/F3 cells with wildtype FGFR3 were IL-3 independent, but FGF1 dependent. PMID 19381019 · Qing et al., 2009 · Open in CIViC | civic |
| (functional) | —UNRESOLVED | Functional | D | Does Not Support Gain Of Function | 2 | submitted | EID10511Common bladder cancer and thanatophoric dysplasia type I variant FGFR3 R248C dimerization was tested in the absence of ligand via QI-FRET to determine if constitutive dimerization was leading to recep… (full text at CIViC) PMID 26244699 · Sarabipour et al., 2015 · Open in CIViC | civic |
| Dovitinib | Transitional Cell Carcinoma | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID8319Purpose of study was to assess the clinical and pharmacodynamic activity of dovitinib in a treatment resistant non-muscle invasive UC of the bladder. A multi-site pilot phase 2 trial was conducted. Ke… (full text at CIViC) PMID 27932416 · Hahn et al., 2017 · Open in CIViC | civic |
| Erdafitinib | Transitional Cell Carcinoma | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID7305Patients with metastatic or unresectable urothelial carcinoma havoring FGFR2 fusion, FGFR3 fusion or FGFR3 mutation were treated with pan-FGFR inhibitor, erdafitinib, in Phase 2 trial.
96 patients wer… (full text at CIViC) Open in CIViC | civic |
| 〃 | Urothelial Carcinoma | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID13088In a Phase 3 trial (NCT03390504), patients with metastatic or surgically unresectable urothelial carcinoma, who had FGFR2 or FGFR3 alterations erdafitinib was tested against chemotherapy (docetaxel or… (full text at CIViC) PMID 37870920 · Loriot et al., 2023 · Open in CIViC | civic |
| 〃 | Transitional Cell Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | rejected | EID8281The use of erdafitinib was associated with an objective tumor response in 40% of previously treated patients who had locally advanced and unresectable or metastatic urothelial carcinoma with FGFR alte… (full text at CIViC) PMID 31340094 · Loriot et al., 2019 · Open in CIViC | civic |
| Infigratinib | Transitional Cell Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID6410In this one-arm study, 67 patients with metastastic urothelial carcinoma and diverse FGFR3 alterations were treated with pan-FGFR Inhibitor BGJ398. The majority of patients (70.1%) had received two or… (full text at CIViC) PMID 29848605 · Pal et al., 2018 · Open in CIViC | civic |
| 〃 | Bladder Carcinoma | Predictive | B | Supports Sensitivity Response | 1 | submitted | EID8318Phase 2 BGJ398 dose escalation to determine maximum tolerated dose and RP2D dose. There was Antitumor activity PR in FGFR3-mutant bladder/urothelial carcinoma. PMID 27870574 · Nogova et al., 2017 · Open in CIViC | civic |
| R3Mab | Malignant NeoplasmALIAS | Predictive | D | Does Not Support Resistance | 3 | accepted | EID8321In this preclinical study, R3Mab (a monoclonal antibody specific to FGFR3) inhibited ligand-independent proliferation in Ba/F3 cells expressing common bladder carcinoma variant: FGFR3 R248C. Authors n… (full text at CIViC) PMID 19381019 · Qing et al., 2009 · Open in CIViC | civic |