Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Cys797Ser (p.C797S)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Cys797Ser (p.C797S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- An EGFR resistance mutation, C797S, was discovered by deep sequencing of cell-free plasma DNA (cfDNA) from patients with advanced lung cancer whose tumors had developed resistance to osimertinib. Expression of this mutant EGFR construct in a cell line rendered it resistant to osimertinib. ddPCR on serial cfDNA specimens collected from 15 osimertinib-treated subjects (all positive for T790M before treatment) revealed 6 cases with acquired C797S mutation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/964
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/415
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Osimertinib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 25939061
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Osimertinib | Resitance or Non-Reponse | true |