Annotation Detail
Information
- Associated Genes
- FBXW7
- Associated Variants
-
FBXW7 LOSS-OF-FUNCTION
FBXW7 LOSS-OF-FUNCTION - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- FBXW7 was shown to target mTOR for ubiquitination and degradation. A reciprocal relationship between FBXW7 or PTEN loss was identified in breast cancer tumors and cell lines (mutual exclusivity of these two events). In total only 4 out of 450 tumor and cell line samples had concomitant loss of both genes (p=4.9x10^-7). Cell lines (n=5) with FBXW7 mutations or deletions were significantly sensitive to rapamycin and downregulation of FBXW7 (shRNA) increased the sensitivity to rapamycin. In summary, this evidence suggests that FBXW7 may be a biomarker for cancers sensitivity to inhibitors of the mTOR pathway.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1632
- Gene URL
- https://civic.genome.wustl.edu/links/genes/12903
- Variant URL
- https://civic.genome.wustl.edu/links/variants/637
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Sirolimus
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 18787170
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sirolimus | Sensitivity | true |