Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR p.Ala2034Val (p.A2034V)
(
ENST00000361445.9,
ENST00000703140.1 )
MTOR p.Ala2034Val (p.A2034V) ( ENST00000361445.9, ENST00000703140.1 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- MCF-7 breast cancer cell line was exposed to mTOR inhibitor rapamycin until resistance developed. Deep sequencing revealed an MTOR A2034V mutation in the resistant clone. Downstream signalling was independent of inhibitor presence in these clones and expression of the mutation in MDA-MB-468 cells led to resistance. Xenografts of these cells were more resistant to rapamycin than AZD8055 or RapaLink-1 treatment.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1547
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2073
- Variant URL
- https://civic.genome.wustl.edu/links/variants/610
- 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 |