Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Glu274Val (p.E274V)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Glu274Val (p.E274V) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- Three chronic myeloid leukemia patients had the BCR-ABL1 fusion with the E255V secondary variant in one or more bacterial clones generated using peripheral blood RNA. They had no best cytogenetic responses but had complete (n = 2) or minor best hematologic responses to dasatinib which were comparable to responses in patients with unmutated BCR-ABL1. The first patient, in chronic phase, had E255V, E255V/Q447R, E255V/T345A, and E255V/T345A/H396R variants in 6/10, 2/10, 1/10, and 1/10 clones, respectively. The second patient, in chronic phase, had E255V and E255K variants in 10/11 and 1/11 clones, respectively. The third patient, in myeloid blast crisis, had E255V and E292V variants in 10/12 and 2/12 clones, respectively.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4448
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1173
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Dasatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 16775234
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Dasatinib | Resitance or Non-Reponse | false |