MTOR
Overview
Although mutations in MTOR have been reported in DLBCL and some BL, their role in lymphomagenesis has not been thoroughly studied.
History
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timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
2019-09-26 : Panea : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2-F | Failed QC1 | |
| 1 | high-confidence DLBCL gene2 |
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
1.
Panea R, Love C, Shingleton JR, Reddy A, Bailey
J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N,
Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles
R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung
R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop
A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S,
Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome
landscape of Burkitt lymphoma subtypes. Blood. 2019;
2.
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. Proceedings of the
National Academy of Sciences of the United States of America.
2013;110:1398–1403. PMCID: PMC3557051

