Annotation Detail

Information
Associated Genes
FGFR3
Associated Variants
FGFR3 p.Ser249Cys (p.S249C) ( ENST00000412135.7, ENST00000340107.9, ENST00000440486.8, ENST00000352904.6, ENST00000481110.7 )
FGFR3 p.Ser249Cys (p.S249C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
Associated Disease
transitional cell carcinoma
Source Database
CIViC Evidence
Description
Case report of a 67 year old woman with high-grade papillary urothelial carcinoma. The patient underwent chemotherapy and palliative cystectomy followed by tumor progression and pulmonary lesion enlargement. Genomic profiling of the cystectomy specimen identified FGFR3, CCND1 and FGF19 amplification as well as an FGFR3 S249C mutation (allele frequency 58%). Pazopanib was initiated on the basis of these findings and a partial response was achieved for >6 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1603
Gene URL
https://civic.genome.wustl.edu/links/genes/23
Variant URL
https://civic.genome.wustl.edu/links/variants/628
Rating
2
Evidence Type
Predictive
Disease
Urothelial Carcinoma
Evidence Direction
Supports
Drug
Pazopanib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25766722
Drugs
Drug NameSensitivitySupported
PazopanibSensitivitytrue