Annotation Detail
Information
- Associated Genes
- NF2
- Associated Variants
-
NF2 K159FS*16
(
ENST00000338641.10 )
NF2 K159FS*16 ( ENST00000338641.10 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- 23 patients were treated with temsirolimus containing regimens. 1 patient with a complete response >3 years had a K159fs*16 mutation in NF2. 2 patients were tested for NF2 mutations.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/715
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3870
- Variant URL
- https://civic.genome.wustl.edu/links/variants/279
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Temsirolimus
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25878190
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Temsirolimus | Sensitivity | true |