Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Ser492Arg (p.S492R)
(
ENST00000275493.7,
ENST00000342916.7,
ENST00000344576.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Ser492Arg (p.S492R) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- Tumor sequencing in pre- and post-therapy specimens from ten individuals with mCRC who experienced disease progression after a prior response to cetuximab with chemotherapy was performed. The S492R mutation was identified in two persons. One of them had already died, the other received treatment with panitumumab and had a partial response (50% tumor reduction in all liver lesions) for 5 months.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1078
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/453
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Panitumumab
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 22270724
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Panitumumab | Sensitivity | true |