Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Ser768Ile (p.S768I)
(
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- S768I mutations in exon 20 of the EGFR gene are rare and are typically seen in conjunction with sensitizing EGFR mutations. Because of this mutation's rarity and the variability of responses of treated cases, its exact prognostic and predictive role is not fully understood. In our experience, S768I mutations in isolation do not necessarily confer sensitivity to erlotinib, but in conjunction with sensitizing EGFR mutations, S768I mutations do not restrict efficacy.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2906
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/562
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Does Not Support
- Drug
- Erlotinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 27211795
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Erlotinib | Sensitivity | false |