Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR MUTATION
EGFR MUTATION - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- In a study of 1261 non-small cell lung cancer patients, 49.8% of the analyzed tumors had EGFR mutations including deletions in exon 19 (n=258), L858R (n=260), T790M (n=6) and insertions or duplications in exon 20 (n=25). Patients with EGFR deletions in exon 19 or L858R mutations were associated with an improved response to erlotinib or gefitinib with partial or complete response (74.1% vs. 16.5%, P<0.001) when compared to wildtype EGFR patients. Additionally, tumors with EGFR mutations in L858R or deletions in exon 19 were associated with increased overall survival (19.6mo vs. 10.4mo) compared to wildtype (all patients were treated with either erlotinib or gefitinib). From 61 patients with uncommon EGFR mutations of unknown clinical significance, 47.5% were responders in contrast to the 74.1% responders in the exon 19 deletion/L858R group.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4759
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1854
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Erlotinib,Gefitinib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 21531810