Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR p.Phe2108Leu (p.F2108L)
(
ENST00000361445.9,
ENST00000703140.1 )
MTOR p.Phe2108Leu (p.F2108L) ( ENST00000361445.9, ENST00000703140.1 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- MCF-7 breast cancer cell line was exposed to mTOR inhibitors AZD8055 or rapamycin until resistance developed. Deep sequencing revealed an MTOR F2108L mutation in rapamycin-resistant clones (RR2 cells). Downstream signalling was independent of inhibitor presence in these clones and expression of the mutations in MDA-MB-468 cells led to resistance.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1543
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2073
- Variant URL
- https://civic.genome.wustl.edu/links/variants/470
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Sirolimus
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 27279227
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sirolimus | Resitance or Non-Reponse | true |