Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Gly719Ser (p.G719S)
(
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- This small clinical (n=56) study suggests that patients with minor mutations of EGFR, like G719S, are likely to have a moderate response to Tyrosine kinase inhibitors like Gefitinib and Erlotinib. In this study 44 of 56 patients were treated with either gefitinib or erlotinib. 35 patients had a G719 mutation but the majority of these were G719S (20 with G719S, 9 with G719A, 3 with G719C).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1736
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/134
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Erlotinib,Gefitinib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26124334