MTOR
Overview
Although mutations in MTOR have been reported in DLBCL1 and some BL, their role in lymphomagenesis has not been thoroughly studied.
History
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2-F | Failed QC |
 |
1 | high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 4.62 |
| BL | Thomas cohort | 3.40 |
| BL | Panea cohort | 10.90 |
| DLBCL | GAMBL genomes | 4.02 |
| DLBCL | Schmitz cohort | 4.04 |
| DLBCL | Reddy cohort | 2.40 |
| DLBCL | Chapuy cohort | 2.14 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.204 | 0 |
| DLBCL | No | No | 5.630 | 0 |
| FL | No | No | 1.429 | 0 |
MTOR Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 11169376 | A>T | I2500N |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
MTOR Expression
Representative Mutations
BL
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References
- Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1398-403. doi: 10.1073/pnas.1205299110. Epub 2013 Jan 4. PMID: 23292937; PMCID: PMC3557051.
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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