Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Glu374Gly (p.E374G)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Glu374Gly (p.E374G) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- Prior to dasatinib treatment, three imatinib-resistant patients with chronic myeloid leukemia had the BCR-ABL1 fusion with the E355G secondary variant in one or more bacterial clones. Clones were generated using peripheral blood RNA. The first two, in chronic and accelerated phases, had minimal or no best cytogenetic responses but had complete or no evidence of leukemia best hematologic responses, respectively. Of these, the first had E355G and E355G/Q252R variants in 8/10 and 1/10 clones, respectively, and the second had E355G, E355G/L324Q, and L324Q variants in 6/10, 1/10, and 3/10 clones, respectively. The third patient, in lymphoid blast crisis with the E355G variant in 10/10 clones, had complete best hematologic and partial best cytogenetic responses to dasatinib. All responses were comparable to responses in patients with unmutated BCR-ABL1.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4404
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1487
- 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 |