Table of Contents
Overview
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.1
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
MCL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| MCL | GAMBL | 160 | 3 | 0.0187 | [0,0.0397] |
| MCL | BC_MCL | 103 | 2 | 0.0194 | [0,0.0461] |
| MCL | Barcelona | 57 | 1 | 0.0175 | [0,0.0516] |
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 31 | 0.0285 | [0.0186,0.0383] |
| DLBCL | GAMBL with Reddy | 2,088 | 48 | 0.0230 | [0.0166,0.0294] |
| DLBCL | BC | 231 | 5 | 0.0216 | [0.0029,0.0404] |
| DLBCL | Dana-Farber | 303 | 9 | 0.0297 | [0.0106,0.0488] |
| DLBCL | NCI | 470 | 16 | 0.0340 | [0.0176,0.0504] |
| DLBCL | Reddy | 999 | 17 | 0.0170 | [0.009,0.025] |
| DLBCL | DLBCL_ICGC | 85 | 1 | 0.0118 | [0,0.0347] |
Mutation pattern and selective pressure estimates
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Expression
All Mutations
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References
1.
Hübschmann D, Kleinheinz K, Wagener R, Bernhart
SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M,
Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann
AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo
de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann
ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C,
Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA,
Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P,
Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero
JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A,
Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W,
Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining
consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R.
Mutational mechanisms shaping the coding and noncoding genome of
germinal center derived B-cell lymphomas.
Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491