Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Cys494ValfsTer8 (p.C494Vfs*8)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Cys494ValfsTer8 (p.C494Vfs*8) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretreated with imatinib aimed at evaluating the efficacy of bosutanib monotherapy. All patients had chronic phase CML and BCR-ABL fusions. Complete hematologic response (CHR) and major cytogenetic response (MCyR) were comparable for patients with Abl1 mutation versus without. Of patients with C475V, 1/1 had a CHR and 1/1 had a MCyR. 9 patients in this study had multiple kinase domain mutations, but it was not indicated when mutations were co-occuring.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4768
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1639
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Bosutinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 22371878
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Bosutinib | Resitance or Non-Reponse | false |