Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | High-confidence DLBCL gene |
 |
1 | High-confidence MZL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 50 | 0.0459 | [0.0335,0.0583] |
| DLBCL | GAMBL with Reddy | 2,088 | 63 | 0.0302 | [0.0228,0.0375] |
| DLBCL | BC | 231 | 5 | 0.0216 | [0.0029,0.0404] |
| DLBCL | Dana-Farber | 303 | 5 | 0.0165 | [0.0022,0.0308] |
| DLBCL | NCI | 470 | 32 | 0.0681 | [0.0453,0.0909] |
| DLBCL | Reddy | 999 | 13 | 0.0130 | [0.006,0.02] |
| DLBCL | DLBCL_ICGC | 85 | 8 | 0.0941 | [0.032,0.1562] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 1.7078 | 0.0000 | 1.0000 |
| FL | 1.4409 | 2.2095 | 1.0000 |
| DLBCL | 0.5133 | 0.4711 | 0.0046 |
NOL9 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 6614187 | G>C | L126V |
| chr1 | 6614167 | C>A | Q132H |
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Expression
History
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timeline
title Publication timing
2016-09-08 : Spina : MZL
2018-04-12 : Schmitz : DLBCL
References
1.
Schmitz R, Wright GW, Huang DW, Johnson CA,
Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson
DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC,
Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald
A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard
JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S,
Wilson WH, Staudt LM. Genetics and Pathogenesis of
Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr
12;378(15):1396–1407. PMCID: PMC6010183
2.
Spina V, Khiabanian H, Messina M, Monti S,
Cascione L, Bruscaggin A, Spaccarotella E, Holmes AB, Arcaini L, Lucioni
M, Tabbò F, Zairis S, Diop F, Cerri M, Chiaretti S, Marasca R, Ponzoni
M, Deaglio S, Ramponi A, Tiacci E, Pasqualucci L, Paulli M, Falini B,
Inghirami G, Bertoni F, Foà R, Rabadan R, Gaidano G, Rossi D. The
genetics of nodal marginal zone lymphoma. Blood. 2016 Sep
8;128(10):1362–1373. PMCID: PMC5016706