Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Gly12Asp (p.G12D)
(
ENST00000256078.10,
ENST00000311936.8,
ENST00000556131.2,
ENST00000557334.6,
ENST00000685328.1,
ENST00000686969.1,
ENST00000688940.1,
ENST00000692768.1,
ENST00000693229.1 )
KRAS p.Gly12Asp (p.G12D) ( ENST00000692768.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000693229.1 ) - Associated Disease
- hairy cell leukemia
- Source Database
- CIViC Evidence
- Description
- One patient enrolled in a clinical study to evaluate vemurafenib treatment of BRAF V600E mutant hairy-cell leukemia developed resistance to vemurafenib retreatment. 300-gene targeted sequencing of the patient’s genome revealed activating subclonal KRAS mutations (KRAS G12D, 15.2% allele frequency; KRAS K117N, 1.2%), as well as a RUNX1 A55E mutation (5.9%) that had not been seen prior to vemurafenib treatment or at remission. BRAF V600E allele frequency was detectable (2.4%) at the time of remission but dramatically increased at relapse (64.9%).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1580
- Gene URL
- https://civic.genome.wustl.edu/links/genes/30
- Variant URL
- https://civic.genome.wustl.edu/links/variants/79
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Hairy Cell Leukemia
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 26352686
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |