Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Phe378Val (p.F378V) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Phe378Val (p.F378V) ( ENST00000318560.6, ENST00000372348.9 )
Associated Disease
chronic myeloid leukemia
Source Database
CIViC Evidence
Description
Prior to dasatinib treatment, one imatinib-resistant patients with chronic myeloid leukemia (CML) in myeloid blast crisis had the BCR-ABL1 fusion with F359V, F359V/Q252R, and L273M secondary variants in 9/12, 1/12, and 2/12 clones, respectively. Clones were generated using peripheral blood RNA. The patient had complete best cytogenetic and no evidence of leukemia best hematologic responses to dasatinib which were better outcomes in comparison to those seen in patients with unmutated BCR-ABL in this phase.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/8002
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/892
Rating
1
Evidence Type
Predictive
Disease
Chronic Myeloid Leukemia
Evidence Direction
Does Not Support
Drug
Dasatinib
Evidence Level
C
Clinical Significance
Resistance
Pubmed
16775234
Drugs
Drug NameSensitivitySupported
DasatinibResitance or Non-Reponsefalse