Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Gln271His (p.Q271H)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Gln271His (p.Q271H) ( 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). Of 6 patients with Q252H mutations, 1, 1, and 3 achieved CCyR, MCyR, and CHR with dasatinib monotherapy, respectively. Analyses by variant included patients with multiple kinase domain mutations. The authors identify Q252H as one of 4 variants with a low CCyR but advise caution when interpreting these results due to low sample size.
- Rating
- 3
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4327
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1024
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Dasatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 19779040
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Dasatinib | Resitance or Non-Reponse | false |