Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Thr790Met (p.T790M)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- 48 tumor samples from 41 patients with EGFR mutant lung adenocarcinoma that were resistant to tyrosine kinase inhibition underwent next generation sequencing (NGS failed in 5 samples leading to a remaining 43 specimens from 39 patients). The prevalence of various mutations post-treatment was analyzed. 79%, or 31 out of the 39 patients, had the T790M EGFR mutation present, indicating its importance in the development of resistance.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1667
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/34
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Erlotinib,Afatinib,Gefitinib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 27304188