RAC2.md
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# RAC2
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## History
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-Mutations in this gene were first described in BL in 2019 by Panea et al<sup>1</sup> and in DLBCL 2021 by Hübschmann et al.<sup>2</sup>
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```mermaid
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%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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timeline
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title Publication timing
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- 2019-09-26 : Panea : BL
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2021-05-05 : Hübschmann : DLBCL
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```
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|Entity|Tier|Description |
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|:------:|:----:|-----------------------------------------|
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-|![BL](images/icons/BL_tier2.png) |2 |relevance in BL not firmly established |
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|![DLBCL](images/icons/DLBCL_tier2.png) |2 |relevance in DLBCL not firmly established|
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## Mutation incidence in large patient cohorts (GAMBL reanalysis)
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|Entity|source |frequency (%)|
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|:------:|:---------------------:|:-------------:|
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-|BL |GAMBL genomes+capture|0.69 |
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-|BL |Thomas cohort |0.40 |
27
-|BL |Panea cohort | NA |
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|DLBCL |GAMBL genomes |1.15 |
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|DLBCL |Schmitz cohort |1.70 |
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|DLBCL |Reddy cohort |1.20 |
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@@ -59,10 +53,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/R
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## References
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62
-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;
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-
64
-2. 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
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+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
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<!-- ORIGIN: 33953289 -->
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-<!-- BL: paneaWholeGenomeLandscape2019 -->
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<!-- DLBCL: hubschmannMutationalMechanismsShaping2021b -->
papers/paneaWholeGenomeLandscape2019.md
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@@ -8,7 +8,7 @@ bibliography: 'morinlab.bib'
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|Entity| Tier 1 genes| Tier 2 genes|
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|:-:|:-:|:-:|
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-|BL|4|41|
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+|BL|4|39|
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```mermaid
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---
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config:
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@@ -24,8 +24,8 @@ config:
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sankey-beta
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This study, New Tier 1, 4
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New Tier 1, BL Tier 1, 4
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-This study, New Tier 2, 41
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-New Tier 2, BL Tier 2, 41
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+This study, New Tier 2, 39
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+New Tier 2, BL Tier 2, 39
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All other BL studies, BL Tier 1, 25
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All other BL studies, BL Tier 2, 111
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```
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|[PDZRN3](../PDZRN3)|2 |&starf; &star; &star; &star; &star;|
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|[PIK3R1](../PIK3R1)|2 |&starf; &star; &star; &star; &star;|
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|[PLCG2](../PLCG2)|2 |&starf; &starf; &starf; &star; &star;|
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-|[PXDNL](../PXDNL)|2 |&star; &star; &star; &star; &star;|
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-|[RAC2](../RAC2)|2 |&star; &star; &star; &star; &star;|
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-|[RNF144B](../RNF144B)|2 |&star; &star; &star; &star; &star;|
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-|[SNTB2](../SNTB2)|2 |&star; &star; &star; &star; &star;|
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-|[SP3](../SP3)|2 |&star; &star; &star; &star; &star;|
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+|[PXDNL](../PXDNL)|2 |&starf; &star; &star; &star; &star;|
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+|[RNF144B](../RNF144B)|2 |&starf; &starf; &starf; &star; &star;|
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+|[SNTB2](../SNTB2)|2 |&starf; &starf; &star; &star; &star;|
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|[SYNCRIP](../SYNCRIP)|2 |&star; &star; &star; &star; &star;|
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|[TET2](../TET2)|2 |&star; &star; &star; &star; &star;|
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|[WDR7](../WDR7)|2 |&star; &star; &star; &star; &star;|
papers/paneaWholeGenomeLandscape2019.pdf
primary/Panea_PXDNL_1.svg
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