Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Glu274Val (p.E274V) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Glu274Val (p.E274V) ( ENST00000318560.6, ENST00000372348.9 )
Associated Disease
chronic myeloid leukemia
Source Database
CIViC Evidence
Description
This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myeloid leukemia (chronic-phase), patients with mutations in the BCR-ABL gene fusion kinase domain from the START-C, START-R, and CA180-034 trials. With dasatinib monotherapy, patients with and without ABL1 mutation had comparable complete hematologic response (CHR), major cytogenetic response (MCyR), complete cytogenetic response (CCyR), and major molecular response (MMR). Out of 11 patients with E255V mutations, 4, 4, and 9 achieved a CCyR, MCyR, and CHR with dasatinib monotherapy, respectively. Analyses by variant included patients with multiple kinase domain mutations.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4447
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/1173
Rating
3
Evidence Type
Predictive
Disease
Chronic Myeloid Leukemia
Evidence Direction
Does Not Support
Drug
Dasatinib
Evidence Level
B
Clinical Significance
Resistance
Pubmed
19779040
Drugs
Drug NameSensitivitySupported
DasatinibResitance or Non-Reponsefalse