Table of Contents
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.15 |
| DLBCL | Schmitz cohort | 1.70 |
| DLBCL | Reddy cohort | 1.20 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
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RAC2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr22 | 37627984 | G>T | N92K |
| chr22 | 37627985 | T>C | N92S |
| chr22 | 37627985 | T>G | N92T |
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Expression
All Mutations
SP59408 SP116726 SP59444 SP124969 SP124979
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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