Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
- ABL1 p.Glu274Lys (p.E274K) ABL1 p.Glu274Lys (p.E274K)
- Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expressed p210 BCR-ABL fusion in Ba/F3 cells using N-ethyl-N-nitrosourea mutagenesis. The E255V mutation was associated with resistance in 4 μM imatinib ( 1 clone, 0.43%) and 500 nM nilotinib (1 clone, 1.25%) tyrosine kinase inhibitors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6194
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/3
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Dasatinib,Imatinib Mesylate,Nilotinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 16772610
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Dasatinib | Resitance or Non-Reponse | true |
| Imatinib Mesylate | Resitance or Non-Reponse | true |
| Nilotinib | Resitance or Non-Reponse | true |