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
- thyroid gland carcinoma
- Source Database
- CIViC Evidence
- Description
- The pretreatment tumor contained a somatic nonsense mutation (Q1178*) in the tumor-suppressor gene TSC2 that inactivates the gene, allowing for activation of the mTOR pathway and resulting in sensitivity to mTOR inhibition by everolimus. The patient received a sustained response to everolimus for 18 months, after which time resistance developed. The resistant tumor had a somatic mutation in MTOR (F2108L), that was not detected in the pretreatment tumor.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1110
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2073
- Variant URL
- https://civic.genome.wustl.edu/links/variants/470
- Rating
- 5
- Evidence Type
- Predictive
- Disease
- Thyroid Gland Carcinoma
- Evidence Direction
- Supports
- Drug
- Everolimus
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 25295501
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Everolimus | Resitance or Non-Reponse | true |