Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Glu472Gln (p.E472Q)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Glu472Gln (p.E472Q) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and BCR-ABL fusions, were treated with bosutanib monotherapy. Complete hematologic response (CHR) and major cytogenetic response (MCyR) were comparable for patients with Abl1 mutation versus without. The authors conclude that bosutanib is effective across all BCR-ABL mutations observed except T315I. Of patients with E453Q evaluated, 1/1 had a complete hematologic response and 1/1 had a major cytogenetic response.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4486
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1509
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Bosutinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 21865346
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Bosutinib | Resitance or Non-Reponse | false |