Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Gln22Ter (p.Q22*)
(
ENST00000685328.1,
ENST00000557334.6,
ENST00000256078.10,
ENST00000688940.1,
ENST00000686969.1,
ENST00000311936.8,
ENST00000692768.1,
ENST00000556131.2,
ENST00000693229.1 )
KRAS p.Gln22Ter (p.Q22*) ( ENST00000256078.10, ENST00000686969.1, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 ) - Associated Disease
- colon mucinous adenocarcinoma
- Source Database
- CIViC Evidence
- Description
- A 43-year-old female was diagnosed with an adenocarcinoma of the ascending colon and received 6-months of adjuvant chemotherapy. After 5 years of completion of adjuvant chemotherapy, the disease relapsed. EGFR was assessed by immunohistochemistry, and the patient was subsequently treated with the anti-EGFR monoclonal antibody panitumumab. However, there was a rapid clinical worsening, which may possibly be attributed to a somatic mutation in KRAS (Q22*).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1131
- Gene URL
- https://civic.genome.wustl.edu/links/genes/30
- Variant URL
- https://civic.genome.wustl.edu/links/variants/479
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Colon Mucinous Adenocarcinoma
- Evidence Direction
- Supports
- Drug
- Panitumumab
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 19661358
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Panitumumab | Resitance or Non-Reponse | true |