Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Phe378Cys (p.F378C) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Phe378Cys (p.F378C) ( ENST00000318560.6, ENST00000372348.9 )
Associated Disease
chronic myeloid leukemia
Source Database
CIViC Evidence
Description
Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chronic phase had the BCR-ABL1 fusion with G250E and F359C variants in 3/10 and 5/10 clones, respectively. Clones were generated using peripheral blood RNA. The patient had complete best cytogenetic and complete best hematologic responses to dasatinib which were improved compared to responses in patients with unmutated BCR-ABL1.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4483
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/1184
Rating
4
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