Annotation Detail

Information
Associated Genes
FGFR3
Associated Variants
FGFR3 K650E
FGFR3 K650E
Associated Disease
urinary bladder cancer
Source Database
CIViC Evidence
Description
In this study, 52 patients with Muscle Invasive Bladder Cancer (MIBC) were randomly selected and administered neoadjuvant cisplatin and gemcitabine chemotherapy. 39 out of 52 patients showed pathological response (partial & complete) and 13 patients were resistant to neoadjuvant chemotherapy.35.9% (14/39) patients that responded to neoadjuvant chemotherapy had the following FGFR3 somatic mutations - p.S249C,p.V372C, p.G299S, p.V411M. FGFR3 somatic mutations exclusively occurred in the responder group.The somatic FGFR3 mutation frequency in the responder group was also compared with three unselected bladder cancer populations from TCGA, Kim et al.study and Guo et al. studies.This analysis revealed that FGFR3 somatic mutations were significantly enriched in the responder cohort compared with the unselected bladder cancer cohorts.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7566
Gene URL
https://civic.genome.wustl.edu/links/genes/23
Variant URL
https://civic.genome.wustl.edu/links/variants/2797
Rating
3
Evidence Type
Predictive
Disease
Urinary Bladder Cancer
Evidence Direction
Supports
Drug
Gemcitabine,Cisplatin
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
29941343
Drugs
Drug NameSensitivitySupported
CisplatinSensitivitytrue
GemcitabineSensitivitytrue