Annotation Detail

Information
Associated Genes
FGFR2
Associated Variants
FGFR2 p.Asn550Lys (p.N550K) ( ENST00000369061.8, ENST00000369060.8, ENST00000369059.5, ENST00000478859.5, ENST00000457416.7, ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000360144.7, ENST00000369056.5, ENST00000613048.4, ENST00000638709.2, ENST00000682550.1, ENST00000682772.1, ENST00000683211.1, ENST00000684153.1 )
FGFR2 p.Asn550Lys (p.N550K) ( ENST00000346997.6, ENST00000351936.11, ENST00000369061.8, ENST00000356226.8, ENST00000357555.9, ENST00000684153.1, ENST00000358487.10, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000457416.7, ENST00000478859.5, ENST00000613048.4, ENST00000638709.2, ENST00000682550.1, ENST00000682772.1, ENST00000683211.1 )
Associated Disease
endometrial cancer
Source Database
CIViC Evidence
Description
The endometrial cancer cell lines, AN3CA and MFE296, which carry the N550K FGFR2 mutation, were found to be sensitive to FGFR inhibition with PD174074 (10 to 40x more sensitive than cell lines with wild type FGFR2.).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1322
Gene URL
https://civic.genome.wustl.edu/links/genes/22
Variant URL
https://civic.genome.wustl.edu/links/variants/545
Rating
3
Evidence Type
Predictive
Disease
Endometrial Cancer
Evidence Direction
Supports
Drug
PD173074
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
18757403
Drugs
Drug NameSensitivitySupported
PD173074Sensitivitytrue