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, Ba/F3 cell line stably expressing the E255K mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with resistance to nilotinib treatment (IC50: 6.69-fold), as compared to Ba/F3 cells expressing BCR-ABL1 fusion protein (reported to be sensitizing to nilotinib). Sensitivity was determined by assessing cell proliferation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2662
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
Nilotinib
Evidence Level
D
Clinical Significance
Resistance
Pubmed
19075254
Drugs
Drug NameSensitivitySupported
NilotinibResitance or Non-Reponsetrue