Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Leu403Met (p.L403M) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Leu403Met (p.L403M) ( 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, a majority of patients with and without ABL1 mutation had comparable complete hematologic response, major cytogenetic response, complete cytogenetic response (CCyR), and major molecular response. However, out of 2 patients with the L384M mutation, 0 achieved CCyR with dasatinib monotherapy. 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/4527
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/1230
Rating
1
Evidence Type
Predictive
Disease
Chronic Myeloid Leukemia
Evidence Direction
Supports
Drug
Dasatinib
Evidence Level
C
Clinical Significance
Resistance
Pubmed
19779040
Drugs
Drug NameSensitivitySupported
DasatinibResitance or Non-Reponsetrue