Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Thr334Ile (p.T334I) ABL1 p.Thr334Ile (p.T334I)
Associated Disease
chronic myeloid leukemia
Source Database
CIViC Evidence
Description
Study describes a phase 1 clinical trial of ponatinib in treatment of 81 refractory Philadelphia chromosome-positive leukemias. 43 of these patients were considered to have chronic-phase CML. All 12 chronic-phase CML patients with a T315I mutation showed a complete hematologic response. Furthermore, 91% of these patients were estimated to remain in response at 1 year (95% CI, Kaplan-Meier analysis).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1390
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/2
Rating
4
Evidence Type
Predictive
Disease
Chronic Myeloid Leukemia
Evidence Direction
Supports
Drug
Ponatinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
23190221
Drugs
Drug NameSensitivitySupported
PonatinibSensitivitytrue