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
- Bone marrow mononuclear cells (BM MNCs) were isolated from a chronic myeloid leukemia patients with the BCR-ABL1 T315I variant who was pretreated with imatinib, dasatinib, and chemotherapy. The patient's cells were sensitive to Ponatinib and Axitinib and insensitive to Nilotinib, Imatinib, and Dasatinib compared to BM MNCs from healthy controls using drug sensitivity scoring of proliferation assays. Additionally, in a rezasurin proliferation assay, Ba/F3 cells carrying the BCR-ABL1 variant were resistant to imatinib in fusions with the T315I variant of ABL1 compared to wildtype ABL1 (IC50 of >4,000 nM vs. 257 nM).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7780
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Nilotinib,Imatinib,Dasatinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25686603