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
- In-vitro studies found this mutation to confer resistance to cetuximab. 2 of 10 patients studied also harbored EGFR S492R and were resistant to cetuximab therapy. Panitumumab was still active in-vitro and in one patient.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/717
- Gene URL
- https://civic.genome.wustl.edu/links/genes/19
- Variant URL
- https://civic.genome.wustl.edu/links/variants/453
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Cetuximab
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 22270724
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cetuximab | Resitance or Non-Reponse | true |