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. These cells remained sensitive to rapamycin and RapaLink-1 in vitro and in mouse xenografts. Expression of the mutation in MDA-MB-468 cells led to AZD8055 resistance and these cells were also rapamycin and RapaLink-1 sensitive.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1545
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2073
- Variant URL
- https://civic.genome.wustl.edu/links/variants/609
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Does Not Support
- Drug
- Sirolimus,RapaLink-1
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 27279227
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| RapaLink-1 | Resitance or Non-Reponse | false |
| Sirolimus | Resitance or Non-Reponse | false |