Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Gly719Ala (p.G719A)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Gly719Ala (p.G719A) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- In a study of 297 non-small cell lung cancer patients, 15% of the analyzed tumors had EGFR mutations including deletions in exon 19 (n=22), L858R (n=16) and G719A (n=2). Patients with EGFR mutations treated with gefitinib were associated with improved response rates (42.1% vs. 6.6%, P=0.04) compared to wildtype EGFR patients.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2508
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/999
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Gefitinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 20038723
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Gefitinib | Sensitivity | true |