Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR p.Met2327Ile (p.M2327I)
(
ENST00000703140.1,
ENST00000361445.9 )
MTOR p.Met2327Ile (p.M2327I) ( ENST00000361445.9, ENST00000703140.1 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- MCF-7 breast cancer cell line was exposed to mTOR inhibitor AZD8055 until resistance developed. Deep sequencing revealed an MTOR M2327I mutation in the AZD8055-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. Tumor volume grew more rapidly in mice with xenografts of M2327I mTOR mutant MCF7 cells treated with AZD8055 than rapamycin or RapaLink-1 treatment.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1544
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2073
- Variant URL
- https://civic.genome.wustl.edu/links/variants/609
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- MTOR Kinase Inhibitor AZD8055
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 27279227
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| MTOR Kinase Inhibitor AZD8055 | Resitance or Non-Reponse | true |