Publication
A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
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Linked entities
Linked entities (8)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 8
- cancerMalignant Neoplasmcivic_curation1.00
- drugSirolimuscivic_curation1.00
- geneMTORcivic_curation1.00
- variantMTOR C1483Ycivic_curation1.00
- variantMTOR E1799Kcivic_curation1.00
- variantMTOR R2152Ccivic_curation1.00
- variantMTOR S2215Ycivic_curation1.00
- variantMTOR T1977Kcivic_curation1.00
Curated evidence
Evidence citing this paper (6)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 24631838
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| MTOR C1483Y1 | ||||||||
| Sirolimus | Malignant NeoplasmALIAS | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1320Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line MOLT16, with MTOR mutation C1483Y was hypersensitive to rapamycin treatment (IC50 of 0.75 … (full text at CIViC) PMID 24631838 · Grabiner et al., 2014 · Open in CIViC | civic |
| MTOR E1799K1 | ||||||||
| Sirolimus | Malignant NeoplasmALIAS | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1321Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line SNU349, with MTOR mutation E1799K was hypersensitive to rapamycin treatment (IC50 of 0.19 … (full text at CIViC) PMID 24631838 · Grabiner et al., 2014 · Open in CIViC | civic |
| MTOR S2215Y1 | ||||||||
| Sirolimus | Malignant NeoplasmALIAS | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1319Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line JHUEM7 with the MTOR mutation S2215Y was hypersensitive to rapamycin treatment (IC50 of 0.… (full text at CIViC) PMID 24631838 · Grabiner et al., 2014 · Open in CIViC | civic |
| MTOR R2152C1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Unaltered Function | 2 | accepted | EID9556Functional analysis of the mTOR R2152C mutation was performed in HEK-293T cells co-transfected with HA-GST-S6K1. Immunoblots showed R2152C resulted in similar low level of S6K1 phosphorylation as wild… (full text at CIViC) PMID 24631838 · Grabiner et al., 2014 · Open in CIViC | civic |
| MTOR T1977K1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID9479Public cancer genome sequencing data sets were used to generated a catalog of mTOR pathway mutations, identified 33 MTOR mutations which confer pathway hyperactivation. A single instance of T1977K was… (full text at CIViC) PMID 24631838 · Grabiner et al., 2014 · Open in CIViC | civic |
| MTOR T1977R1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 3 | submitted | EID9480Public cancer genome sequencing data sets were used to generated a catalog of mTOR pathway mutations, identified 33 MTOR mutations which confer pathway hyperactivation. Multiple instances of T1977R we… (full text at CIViC) PMID 24631838 · Grabiner et al., 2014 · Open in CIViC | civic |