MZL_genes.md
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@@ -15,43 +15,43 @@ link-citations: true
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|Gene|Summary| First MZL study | Other entities | QC result |
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|:-:|:--:|:-:|:-|:-|
18
-|[ACTB](ACTB)|Tier 1 GE[@], aSHM||[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012; @wienandGenomicAnalysesFlowsorted2019]||
18
+|[ACTB](ACTB)|Tier 1 GE, aSHM||[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012; @wienandGenomicAnalysesFlowsorted2019]||
19 19
|[ARID1A](ARID1A)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@barisicARID1AOrchestratesSWI2024]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@krysiakRecurrentSomaticMutations2017; @loveGeneticLandscapeMutations2012; @wienandGenomicAnalysesFlowsorted2019; @zhangGeneticHeterogeneityDiffuse2013]||
20 20
|[ATM](ATM)|Tier 1 GE[@braggioGenomicAnalysisMarginal2012], FE[@camachoATMGeneInactivation2002]|[Braggio et al](papers/braggioGenomicAnalysisMarginal2012)|[@beaLandscapeSomaticMutations2013; @reddyGeneticFunctionalDrivers2017]||
21 21
|[BCL10](BCL10)|Tier 1 GE[@spinaGeneticsNodalMarginal2016], FE[@xiaBCL10MutationsDefine2022]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@morinFrequentMutationHistonemodifying2011; @russler-germainMutationsAssociatedProgression2023]||
22
-|[BCL7A](BCL7A)|Tier 1 GE[@], FE[@balinas-gaviraFrequentMutationsAminoterminal2020], aSHM||[@grandeGenomewideDiscoverySomatic2019; @krysiakRecurrentSomaticMutations2017; @morinFrequentMutationHistonemodifying2011; @reichelFlowSortingExome2015]||
22
+|[BCL7A](BCL7A)|Tier 1 GE, FE[@balinas-gaviraFrequentMutationsAminoterminal2020], aSHM||[@grandeGenomewideDiscoverySomatic2019; @krysiakRecurrentSomaticMutations2017; @morinFrequentMutationHistonemodifying2011; @reichelFlowSortingExome2015]||
23 23
|[BIRC3](BIRC3)|Tier 1 GE[@rossiAlterationBIRC3Multiple2011], aSHM|[Rossi et al](papers/rossiAlterationBIRC3Multiple2011)|[@arthurGenomewideDiscoverySomatic2018; @beaLandscapeSomaticMutations2013; @dunsCharacterizationDLBCLPMBL2021]||
24
-|[BRAF](BRAF)|Tier 1 GE[@], FE[@wanMechanismActivationRAFERK2004]||[@loveGeneticLandscapeMutations2012; @tiacciBRAFMutationsHairycell2011]||
25
-|[BTG1](BTG1)|Tier 1 GE[@], FE[@almasmoumFrequentLossBTG12021], aSHM||[@burkhardtClinicalRelevanceMolecular2022; @drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @sarkozyMutationalLandscapeGray2021]||
24
+|[BRAF](BRAF)|Tier 1 GE, FE[@wanMechanismActivationRAFERK2004]||[@loveGeneticLandscapeMutations2012; @tiacciBRAFMutationsHairycell2011]||
25
+|[BTG1](BTG1)|Tier 1 GE, FE[@almasmoumFrequentLossBTG12021], aSHM||[@burkhardtClinicalRelevanceMolecular2022; @drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @sarkozyMutationalLandscapeGray2021]||
26 26
|[CARD11](CARD11)|Tier 1 GE[@yanBCRTLRSignaling2012], FE[@lenzOncogenicCARD11Mutations2008]|[Yan et al](papers/yanBCRTLRSignaling2012)|[@lenzOncogenicCARD11Mutations2008; @morinFrequentMutationHistonemodifying2011; @wuGeneticHeterogeneityPrimary2016]||
27 27
|[CCND3](CCND3)|Tier 1 GE[@jalladesExomeSequencingIdentifies2017], FE[@schmitzBurkittLymphomaPathogenesis2012]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|[@deschGenotypingCirculatingTumor2020; @morinFrequentMutationHistonemodifying2011; @richterRecurrentMutationID32012]||
28
-|[CXCR4](CXCR4)|Tier 1 GE[@], FE[@zmajkovicovaGenotypephenotypeCorrelationsWHIM2022], aSHM||[@khodabakhshiRecurrentTargetsAberrant2012; @krysiakRecurrentSomaticMutations2017; @paneaWholeGenomeLandscape2019]||
28
+|[CXCR4](CXCR4)|Tier 1 GE, FE[@zmajkovicovaGenotypephenotypeCorrelationsWHIM2022], aSHM||[@khodabakhshiRecurrentTargetsAberrant2012; @krysiakRecurrentSomaticMutations2017; @paneaWholeGenomeLandscape2019]||
29 29
|[DTX1](DTX1)|Tier 1 GE[@rossiCodingGenomeSplenic2012], aSHM|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@gomezUltraDeepSequencingReveals2023; @loveGeneticLandscapeMutations2012; @zhangGeneticHeterogeneityDiffuse2013]||
30 30
|[EP300](EP300)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@pasqualucciInactivatingMutationsAcetyltransferase2011]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@pasqualucciInactivatingMutationsAcetyltransferase2011]||
31
-|[EZH2](EZH2)|Tier 1 GE[@], FE[@sneeringerCoordinatedActivitiesWildtype2010]||[@loveGeneticLandscapeMutations2012; @morinSomaticMutationsAltering2010; @mottokIntegrativeGenomicAnalysis2019]||
31
+|[EZH2](EZH2)|Tier 1 GE, FE[@sneeringerCoordinatedActivitiesWildtype2010]||[@loveGeneticLandscapeMutations2012; @morinSomaticMutationsAltering2010; @mottokIntegrativeGenomicAnalysis2019]||
32 32
|[FAS](FAS)|Tier 1 GE[@spinaGeneticsNodalMarginal2016], FE[@wangFasFADDDeathDomain2010]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@morinFrequentMutationHistonemodifying2011; @schollMutationsRegionFAS2007]||
33 33
|[FAT1](FAT1)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|||
34
-|[FOXO1](FOXO1)|Tier 1 GE[@], FE[@trinhAnalysisFOXO1Mutations]||[@dunsCharacterizationDLBCLPMBL2021; @morinFrequentMutationHistonemodifying2011; @schmitzBurkittLymphomaPathogenesis2012]||
35
-|[H1-4](H1-4)|Tier 1 GE[@]||||
36
-|[H1-5](H1-5)|Tier 1 GE[@]||||
34
+|[FOXO1](FOXO1)|Tier 1 GE, FE[@trinhAnalysisFOXO1Mutations]||[@dunsCharacterizationDLBCLPMBL2021; @morinFrequentMutationHistonemodifying2011; @schmitzBurkittLymphomaPathogenesis2012]||
35
+|[H1-4](H1-4)|Tier 1 GE||||
36
+|[H1-5](H1-5)|Tier 1 GE||||
37 37
|[ID3](ID3)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@richterRecurrentMutationID32012; @schmitzGeneticsPathogenesisDiffuse2018]||
38 38
|[KLF2](KLF2)|Tier 1 GE[@jalladesExomeSequencingIdentifies2017], aSHM|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|[@deschGenotypingCirculatingTumor2020; @drevalGeneticSubdivisionsFollicular2023; @pasqualucciAnalysisCodingGenome2011]||
39 39
|[KLHL6](KLHL6)|Tier 1 GE[@ganapathiGeneticLandscapeDural2016], FE[@choiLossKLHL6Promotes2018], aSHM|[Ganapathi et al](papers/ganapathiGeneticLandscapeDural2016)|[@morinFrequentMutationHistonemodifying2011]||
40 40
|[KMT2D](KMT2D)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@zhangDisruptionKMT2DPerturbs2015]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@beaLandscapeSomaticMutations2013; @deschGenotypingCirculatingTumor2020; @grandeGenomewideDiscoverySomatic2019; @morinFrequentMutationHistonemodifying2011]||
41 41
|[MAP3K14](MAP3K14)|Tier 1 GE[@rossiAlterationBIRC3Multiple2011]|[Rossi et al](papers/rossiAlterationBIRC3Multiple2011)|[@ottoGeneticLesionsTRAF32012]||
42
-|[MPEG1](MPEG1)|Tier 1 GE[@]||[@morinMutationalStructuralAnalysis2013]||
42
+|[MPEG1](MPEG1)|Tier 1 GE||[@morinMutationalStructuralAnalysis2013]||
43 43
|[MYD88](MYD88)|Tier 1 GE[@yanBCRTLRSignaling2012], FE[@ngoOncogenicallyActiveMYD882011]|[Yan et al](papers/yanBCRTLRSignaling2012)|[@drevalGeneticSubdivisionsFollicular2023; @ngoOncogenicallyActiveMYD882011]||
44 44
|[NCOR2](NCOR2)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@sarkozyMutationalLandscapeGray2021; @schmitzBurkittLymphomaPathogenesis2012]||
45 45
|[NOL9](NOL9)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@schmitzGeneticsPathogenesisDiffuse2018]||
46 46
|[NOTCH1](NOTCH1)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@ryanCellRegulomeLinks2017]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@beaLandscapeSomaticMutations2013; @loveGeneticLandscapeMutations2012; @pasqualucciAnalysisCodingGenome2011]||
47 47
|[NOTCH2](NOTCH2)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@leeGainoffunctionMutationsCopy2009]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@beaLandscapeSomaticMutations2013; @zhangGeneticHeterogeneityDiffuse2013]||
48
-|[PCLO](PCLO)|Tier 1 GE[@]||[@lohrDiscoveryPrioritizationSomatic2012]||
49
-|[POU2AF1](POU2AF1)|Tier 1 GE[@], FE[@gonzalez-rinconUnravelingTransformationFollicular2019], aSHM||[@chapuyMolecularSubtypesDiffuse2018; @krysiakRecurrentSomaticMutations2017]||
48
+|[PCLO](PCLO)|Tier 1 GE||[@lohrDiscoveryPrioritizationSomatic2012]||
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+|[POU2AF1](POU2AF1)|Tier 1 GE, FE[@gonzalez-rinconUnravelingTransformationFollicular2019], aSHM||[@chapuyMolecularSubtypesDiffuse2018; @krysiakRecurrentSomaticMutations2017]||
50 50
|[PTPRD](PTPRD)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@drevalGeneticSubdivisionsFollicular2023]||
51 51
|[SIN3A](SIN3A)|Tier 1 GE[@rossiCodingGenomeSplenic2012]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@chapuyMolecularSubtypesDiffuse2018; @grandeGenomewideDiscoverySomatic2019]||
52
-|[SOCS1](SOCS1)|Tier 1 GE[@], FE[@melznerBiallelicMutationSOCS12005], aSHM||[@drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @wenigerMutationsTumorSuppressor2006]||
52
+|[SOCS1](SOCS1)|Tier 1 GE, FE[@melznerBiallelicMutationSOCS12005], aSHM||[@drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @wenigerMutationsTumorSuppressor2006]||
53 53
|[SPEN](SPEN)|Tier 1 GE[@rossiCodingGenomeSplenic2012]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@albuquerqueEnhancingKnowledgeDiscovery2017; @sarkozyMutationalLandscapeGray2021]||
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-|[STAT6](STAT6)|Tier 1 GE[@], FE[@mentzPARP14NovelTarget2022]||[@ritzRecurrentMutationsSTAT62009; @yildizActivatingSTAT6Mutations2015]||
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+|[STAT6](STAT6)|Tier 1 GE, FE[@mentzPARP14NovelTarget2022]||[@ritzRecurrentMutationsSTAT62009; @yildizActivatingSTAT6Mutations2015]||
55 55
|[TBL1XR1](TBL1XR1)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@venturuttiTBL1XR1MutationsDrive2020]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012]||
56 56
|[TNFAIP3](TNFAIP3)|Tier 1 GE[@rossiAlterationBIRC3Multiple2011], FE[@compagnoMutationsMultipleGenes2009]|[Rossi et al](papers/rossiAlterationBIRC3Multiple2011)|[@compagnoMutationsMultipleGenes2009; @drevalGeneticSubdivisionsFollicular2023; @schmitzTNFAIP3A20Tumor2009]||
57 57
|[TNFRSF14](TNFRSF14)|Tier 1 GE[@spinaGeneticsNodalMarginal2016], FE[@]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@cheungAcquiredTNFRSF14Mutations2010; @morinFrequentMutationHistonemodifying2011]||
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@@ -88,8 +88,8 @@ link-citations: true
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|[DNAH7](DNAH7)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|||
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|[DNAI1](DNAI1)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|||
90 90
|[DOCK6](DOCK6)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|||
91
-|[DSP](DSP)|Tier 2 GE[@]||[@zhangGeneticHeterogeneityDiffuse2013]||
92
-|[DTNB](DTNB)|Tier 2 GE[@]||||
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+|[DSP](DSP)|Tier 2 GE||[@zhangGeneticHeterogeneityDiffuse2013]||
92
+|[DTNB](DTNB)|Tier 2 GE||||
93 93
|[DTX3L](DTX3L)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|||
94 94
|[EGR1](EGR1)|Tier 2 GE[@rossiCodingGenomeSplenic2012]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@krysiakRecurrentSomaticMutations2017; @reichelFlowSortingExome2015]||
95 95
|[EGR2](EGR2)|Tier 2 GE[@rossiCodingGenomeSplenic2012]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|||
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@@ -121,9 +121,9 @@ link-citations: true
121 121
|[PLA2G4D](PLA2G4D)|Tier 2 GE[@parryWholeExomeSequencing2013]|[Parry et al](papers/parryWholeExomeSequencing2013)|||
122 122
|[PLXNB3](PLXNB3)|Tier 2 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@zhangGenomicLandscapeMantle2014]||
123 123
|[RAF1](RAF1)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|[@fanComprehensiveCharacterizationDriver2020]||
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-|[RAPGEF2](RAPGEF2)|Tier 2 GE[@]||[@zhangGeneticHeterogeneityDiffuse2013]||
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+|[RAPGEF2](RAPGEF2)|Tier 2 GE||[@zhangGeneticHeterogeneityDiffuse2013]||
125 125
|[RCOR1](RCOR1)|Tier 2 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|||
126
-|[RFTN1](RFTN1)|Tier 2 GE[@], aSHM||[@arthurGenomewideDiscoverySomatic2018; @dunsCharacterizationDLBCLPMBL2021]||
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+|[RFTN1](RFTN1)|Tier 2 GE, aSHM||[@arthurGenomewideDiscoverySomatic2018; @dunsCharacterizationDLBCLPMBL2021]||
127 127
|[ROCK1](ROCK1)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|||
128 128
|[RPL1L](RPL1L)|Tier 2 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|||
129 129
|[SAMD5](SAMD5)|Tier 2 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|||