Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
- ABL1 p.Phe336Leu (p.F336L) ABL1 p.Phe336Leu (p.F336L)
- Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, a Ba/F3 cell line stably expressing the F317L mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with similar sensitivity to nilotinib and bafetinib treatment (IC50: 929.8 nM and 239.5 nM) as compared to wild-type BCR-ABL1 expressing Ba/F3 cells (IC50: 642.3 nM and 152.9 nM). Sensitivity was determined by assessing cell proliferation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2677
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/241
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Does Not Support
- Drug
- Nilotinib,Bafetinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 18191450