Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Asp761Tyr (p.D761Y)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Asp761Tyr (p.D761Y) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- D761Y as a secondary mutation was reported to be associated with resistance to gefitinib and erlotinib in NSCLC cells that contain the L858R-EGFR mutation. This mutation combination was observed in a single patient with lung cancer and specifically in a metastatic brain lesion following gefitinib treatment. Functional validation of its role in drug sensitivity was examined in cell lines (293T and Ba/F3 cells).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1763
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/712
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Gefitinib,Erlotinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 17085664