Annotation Detail
Information
- Associated Genes
- PML
- Associated Variants
-
PML B2 DOMAIN MUTATION
PML B2 DOMAIN MUTATION - Associated Disease
- acute promyelocytic leukemia
- Source Database
- CIViC Evidence
- Description
- Mutations in the B2 domain of PML in the PML-RARa fusion have been shown to be associated with resistance to standard ATRA treatment in patients with acute promyelocytic leukemia.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1092
- Gene URL
- https://civic.genome.wustl.edu/links/genes/39
- Variant URL
- https://civic.genome.wustl.edu/links/variants/461
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Acute Promyelocytic Leukemia
- Evidence Direction
- Supports
- Drug
- Tretinoin
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 23670176
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Tretinoin | Resitance or Non-Reponse | true |