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 adenocarcinoma
- Source Database
- CIViC Evidence
- Description
- Case report of a patient with stage IV lung adenocarcinoma and a 15–base pair deletion in EGFR exon 19. Partial response with erlotinib was achieved for 15 months after initial chemotherapy. After further progression, rebiopsy additionally identified the EGFR T790M mutation and the patient received several cycles of chemotherapy and targeted therapy including afatinib, cetuximab, erlotinib, AZD9291. She was treated with AZD9291 for 9 months until disease progression. Repeat biopsy detected EGFRC797S mutation additionally to both aforementioned EGFR aberrations. In addition, PTEN Y27C and CTNNB1 S37F mutations were present in all 3 samples, and a TSC2 N486I was seen in the third biopsy sample only
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1396
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/415
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Lung Adenocarcinoma
- Evidence Direction
- Supports
- Drug
- Osimertinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 26181354
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Osimertinib | Resitance or Non-Reponse | true |