Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
- ABL1 p.Thr334Ile (p.T334I) ABL1 p.Thr334Ile (p.T334I)
- 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. Resulting clones were grown in a range of tyrosine kinase inhibitor concentrations to identify resistance mutations. The T315I mutation was associated with resistance in 400 nM imatinib + 50 nM nilotinib (3 clones, ~16%), 2 μM imatinib + 1 μM nilotinib (8 clones, 100%), and 4 μM imatinib + 2 μM nilotinib (2 clones, 100%) combination treatments.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6196
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Nilotinib,Imatinib Mesylate
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 16772610
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib Mesylate | Resitance or Non-Reponse | true |
| Nilotinib | Resitance or Non-Reponse | true |