PMBL_genes.md
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@@ -9,184 +9,184 @@ link-citations: true
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![](PMBL_sankey-1.svg)
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-## Tier 1 PMBL genes
12
+## Tier 1, high-confidence PMBL genes
13 13
14 14
### *76 total*
15 15
16
-|Gene|Tier| First PMBL evidence | Other entities |
17
-|:-:|:-:|:--|:-|
18
-|[ACTB](ACTB)|1|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019b)[@wienandGenomicAnalysesFlowsorted2019b]|[@lohrDiscoveryPrioritizationSomatic2012a]|
19
-|[ARID1A](ARID1A)|1|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019b)[@wienandGenomicAnalysesFlowsorted2019b]|[@rossiCodingGenomeSplenic2012c; @zhangGeneticHeterogeneityDiffuse2013; @loveGeneticLandscapeMutations2012; @krysiakRecurrentSomaticMutations2017b]|
20
-|[ARID5B](ARID5B)|1|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)[@gomezUltraDeepSequencingReveals2023]|[@reddyGeneticFunctionalDrivers2017]|
21
-|[B2M](B2M)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@pararajalingamCodingNoncodingDrivers2020; @morinFrequentMutationHistonemodifying2011]|
22
-|[BIRC6](BIRC6)|1|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@reddyGeneticFunctionalDrivers2017]|
23
-|[BTG1](BTG1)|1|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@burkhardtClinicalRelevanceMolecular2022b; @morinFrequentMutationHistonemodifying2011]|
24
-|[CD58](CD58)|1|[Schneider et al](papers/schneiderAlterationsCD58Gene2015a)[@schneiderAlterationsCD58Gene2015a]|[@morinFrequentMutationHistonemodifying2011]|
25
-|[CD83](CD83)|1|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@paneaWholeGenomeLandscape2019; @russler-germainMutationsAssociatedProgression2023b; @morinMutationalStructuralAnalysis2013]|
26
-|[CDKN2A](CDKN2A)|1||[@spinaGeneticsNodalMarginal2016b; @morinMutationalStructuralAnalysis2013; @grandeGenomewideDiscoverySomatic2019]|
27
-|[CHD8](CHD8)|1||[@grandeGenomewideDiscoverySomatic2019]|
28
-|[CIITA](CIITA)|1|[Mottok et al](papers/mottokGenomicAlterationsCIITA2015b)[@mottokGenomicAlterationsCIITA2015b]|[@morinFrequentMutationHistonemodifying2011]|
29
-|[CISH](CISH)|1|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]||
30
-|[CREBBP](CREBBP)|1|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@parryWholeExomeSequencing2013; @pasqualucciInactivatingMutationsAcetyltransferase2011a; @loveGeneticLandscapeMutations2012]|
31
-|[CSF2RB](CSF2RB)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
32
-|[DDX3X](DDX3X)|1|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@schmitzBurkittLymphomaPathogenesis2012; @reddyGeneticFunctionalDrivers2017]|
33
-|[DTX1](DTX1)|1|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)[@gomezUltraDeepSequencingReveals2023]|[@loveGeneticLandscapeMutations2012; @rossiCodingGenomeSplenic2012c; @zhangGeneticHeterogeneityDiffuse2013]|
34
-|[DUSP2](DUSP2)|1|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@lohrDiscoveryPrioritizationSomatic2012a]|
35
-|[EBF1](EBF1)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@thomasGeneticSubgroupsInform2023; @bohleRoleEarlyBcell2013]|
36
-|[EEF1A1](EEF1A1)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@hubschmannMutationalMechanismsShaping2021b]|
37
-|[ETS1](ETS1)|1||[@paneaWholeGenomeLandscape2019; @morinFrequentMutationHistonemodifying2011]|
38
-|[EWSR1](EWSR1)|1||[@pararajalingamCodingNoncodingDrivers2020]|
39
-|[EZH2](EZH2)|1|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@morinSomaticMutationsAltering2010a; @loveGeneticLandscapeMutations2012]|
40
-|[FAS](FAS)|1||[@spinaGeneticsNodalMarginal2016b; @schollMutationsRegionFAS2007]|
41
-|[FAT1](FAT1)|1||[@spinaGeneticsNodalMarginal2016b]|
42
-|[FAT4](FAT4)|1||[@morinMutationalStructuralAnalysis2013; @zhangGenomicLandscapeMantle2014; @parryWholeExomeSequencing2013]|
43
-|[GNA13](GNA13)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@morinFrequentMutationHistonemodifying2011; @loveGeneticLandscapeMutations2012]|
44
-|[HIST1H1B](HIST1H1B)|1|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@chapuyMolecularSubtypesDiffuse2018b; @krysiakRecurrentSomaticMutations2017b]|
45
-|[HIST1H1C](HIST1H1C)|1||[@paneaWholeGenomeLandscape2019; @morinFrequentMutationHistonemodifying2011]|
46
-|[HIST1H1D](HIST1H1D)|1||[@morinMutationalStructuralAnalysis2013; @jalladesExomeSequencingIdentifies2017; @krysiakRecurrentSomaticMutations2017b]|
47
-|[HIST1H1E](HIST1H1E)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@krysiakRecurrentSomaticMutations2017b; @grandeGenomewideDiscoverySomatic2019; @lohrDiscoveryPrioritizationSomatic2012a]|
48
-|[HLA-B](HLA-B)|1|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019b)[@wienandGenomicAnalysesFlowsorted2019b]|[@lohrDiscoveryPrioritizationSomatic2012a]|
49
-|[IL4R](IL4R)|1|[Vigano et al](papers/viganoSomaticIL4RMutations2018b)[@viganoSomaticIL4RMutations2018b]|[@dunsCharacterizationDLBCLPMBL2021b]|
50
-|[IRF8](IRF8)|1|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019]|
51
-|[ITPKB](ITPKB)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@schmitzGeneticsPathogenesisDiffuse2018a]|
52
-|[JAK1](JAK1)|1|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@zhangGeneticHeterogeneityDiffuse2013]|
53
-|[KMT2C](KMT2C)|1|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@zhangGenomicLandscapeMantle2014; @zhouSporadicEndemicBurkitt2019; @zhangGeneticHeterogeneityDiffuse2013]|
54
-|[LTB](LTB)|1|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]|[@chapuyMolecularSubtypesDiffuse2018b]|
55
-|[MAP3K14](MAP3K14)|1|[Otto et al](papers/ottoGeneticLesionsTRAF32012a)[@ottoGeneticLesionsTRAF32012a]|[@rossiAlterationBIRC3Multiple2011a]|
56
-|[MS4A1](MS4A1)|1|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@rushtonGeneticEvolutionaryPatterns2020]|
57
-|[NFKBIA](NFKBIA)|1|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019b)[@wienandGenomicAnalysesFlowsorted2019b]|[@lakeMutationsNFKBIAEncoding2009; @russler-germainMutationsAssociatedProgression2023b]|
58
-|[NFKBIE](NFKBIE)|1|[Mansouri et al](papers/mansouriFrequentNFKBIEDeletions2016)[@mansouriFrequentNFKBIEDeletions2016]|[@morinGeneticLandscapesRelapsed2016; @pararajalingamCodingNoncodingDrivers2020]|
59
-|[OSBPL10](OSBPL10)|1||[@zhangGeneticHeterogeneityDiffuse2013]|
60
-|[P2RY8](P2RY8)|1||[@muppidiLossSignalingGa132014b; @lohrDiscoveryPrioritizationSomatic2012a]|
61
-|[PCLO](PCLO)|1||[@lohrDiscoveryPrioritizationSomatic2012a]|
62
-|[PHIP](PHIP)|1|||
63
-|[PIM1](PIM1)|1|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@burkhardtClinicalRelevanceMolecular2022b; @pasqualucciHypermutationMultipleProtooncogenes2001a]|
64
-|[PIM2](PIM2)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@arthurGenomewideDiscoverySomatic2018]|
65
-|[PRKDC](PRKDC)|1||[@hubschmannMutationalMechanismsShaping2021b; @schmitzGeneticsPathogenesisDiffuse2018a]|
66
-|[PTPN1](PTPN1)|1|[Gunawardana et al](papers/gunawardanaRecurrentSomaticMutations2014c)[@gunawardanaRecurrentSomaticMutations2014c]||
67
-|[PTPRD](PTPRD)|1||[@spinaGeneticsNodalMarginal2016b]|
68
-|[RHOA](RHOA)|1||[@richterRecurrentMutationID32012a; @zhangGeneticHeterogeneityDiffuse2013]|
69
-|[S1PR2](S1PR2)|1||[@muppidiLossSignalingGa132014b; @morinFrequentMutationHistonemodifying2011]|
70
-|[SGK1](SGK1)|1|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@morinFrequentMutationHistonemodifying2011]|
71
-|[SIN3A](SIN3A)|1||[@chapuyMolecularSubtypesDiffuse2018b; @grandeGenomewideDiscoverySomatic2019; @rossiCodingGenomeSplenic2012c]|
72
-|[SMARCA2](SMARCA2)|1|||
73
-|[SMARCA4](SMARCA4)|1||[@lohrDiscoveryPrioritizationSomatic2012a; @nadeuGenomicEpigenomicInsights2020b; @krysiakRecurrentSomaticMutations2017b; @richterRecurrentMutationID32012a]|
74
-|[SOCS1](SOCS1)|1|[Weniger et al](papers/wenigerMutationsTumorSuppressor2006a)[@wenigerMutationsTumorSuppressor2006a]|[@morinFrequentMutationHistonemodifying2011]|
75
-|[SPEN](SPEN)|1|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@albuquerqueEnhancingKnowledgeDiscovery2017a; @rossiCodingGenomeSplenic2012c]|
76
-|[STAT3](STAT3)|1||[@lohrDiscoveryPrioritizationSomatic2012a]|
77
-|[STAT6](STAT6)|1|[Ritz et al](papers/ritzRecurrentMutationsSTAT62009a)[@ritzRecurrentMutationsSTAT62009a]|[@yildizActivatingSTAT6Mutations2015c]|
78
-|[TAP1](TAP1)|1||[@schmitzGeneticsPathogenesisDiffuse2018a]|
79
-|[TBL1XR1](TBL1XR1)|1||[@rossiCodingGenomeSplenic2012c; @lohrDiscoveryPrioritizationSomatic2012a]|
80
-|[TCF3](TCF3)|1||[@schmitzBurkittLymphomaPathogenesis2012]|
81
-|[TET3](TET3)|1|||
82
-|[TMSB4X](TMSB4X)|1||[@albuquerqueEnhancingKnowledgeDiscovery2017a]|
83
-|[TNFAIP3](TNFAIP3)|1|[Schmitz et al](papers/schmitzTNFAIP3A20Tumor2009a)[@schmitzTNFAIP3A20Tumor2009a]|[@compagnoMutationsMultipleGenes2009a; @rossiAlterationBIRC3Multiple2011a]|
84
-|[TNFRSF1B](TNFRSF1B)|1|||
85
-|[TP53](TP53)|1|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]|[@beaLandscapeSomaticMutations2013; @lohrDiscoveryPrioritizationSomatic2012a; @rossiCodingGenomeSplenic2012c; @wildaInactivationARFMDM2p53Pathway2004; @morinFrequentMutationHistonemodifying2011]|
86
-|[TRAF3](TRAF3)|1|[Otto et al](papers/ottoGeneticLesionsTRAF32012a)[@ottoGeneticLesionsTRAF32012a]|[@pasqualucciAnalysisCodingGenome2011; @rossiAlterationBIRC3Multiple2011a]|
87
-|[UBE2A](UBE2A)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@lohrDiscoveryPrioritizationSomatic2012a]|
88
-|[UBR5](UBR5)|1||[@zhangGeneticHeterogeneityDiffuse2013; @pararajalingamCodingNoncodingDrivers2020]|
89
-|[UNC5C](UNC5C)|1||[@lohrDiscoveryPrioritizationSomatic2012a]|
90
-|[VPS13B](VPS13B)|1||[@lohrDiscoveryPrioritizationSomatic2012a]|
91
-|[WEE1](WEE1)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@schmitzGeneticsPathogenesisDiffuse2018a]|
92
-|[XPO1](XPO1)|1|[Jardin et al](papers/jardinRecurrentMutationsExportin2016a)[@jardinRecurrentMutationsExportin2016a]|[@mareschalWholeExomeSequencing2016]|
93
-|[ZFP36L1](ZFP36L1)|1|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@paneaWholeGenomeLandscape2019; @morinFrequentMutationHistonemodifying2011]|
16
+|Gene|Summary| First PMBL study | Other entities | QC result |
17
+|:-:|:--:|:-:|:-|:-|
18
+|[ACTB](ACTB)|Tier 1 GE[@wienandGenomicAnalysesFlowsorted2019], aSHM|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019)|[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012]||
19
+|[ARID1A](ARID1A)|Tier 1 GE[@wienandGenomicAnalysesFlowsorted2019], FE[@barisicARID1AOrchestratesSWI2024]|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019)|[@krysiakRecurrentSomaticMutations2017; @loveGeneticLandscapeMutations2012; @rossiCodingGenomeSplenic2012; @zhangGeneticHeterogeneityDiffuse2013]||
20
+|[ARID5B](ARID5B)|Tier 1 GE[@gomezUltraDeepSequencingReveals2023]|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)|[@reddyGeneticFunctionalDrivers2017]||
21
+|[B2M](B2M)|Tier 1 GE[@reichelFlowSortingExome2015], FE[@challa-malladiCombinedGeneticInactivation2011]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@morinFrequentMutationHistonemodifying2011; @pararajalingamCodingNoncodingDrivers2020]||
22
+|[BIRC6](BIRC6)|Tier 1 GE[@sarkozyMutationalLandscapeGray2021]|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@reddyGeneticFunctionalDrivers2017]||
23
+|[BTG1](BTG1)|Tier 1 GE[@sarkozyMutationalLandscapeGray2021], FE[@almasmoumFrequentLossBTG12021], aSHM|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@burkhardtClinicalRelevanceMolecular2022; @drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011]||
24
+|[CD58](CD58)|Tier 1 GE[@schneiderAlterationsCD58Gene2015], FE[@challa-malladiCombinedGeneticInactivation2011]|[Schneider et al](papers/schneiderAlterationsCD58Gene2015)|[@morinFrequentMutationHistonemodifying2011]||
25
+|[CD83](CD83)|Tier 1 GE[@dunsCharacterizationDLBCLPMBL2021], aSHM|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@morinMutationalStructuralAnalysis2013; @paneaWholeGenomeLandscape2019; @russler-germainMutationsAssociatedProgression2023]||
26
+|[CDKN2A](CDKN2A)|Tier 1 GE[@], FE[@kannengiesserFunctionalStructuralGenetic2009]||[@grandeGenomewideDiscoverySomatic2019; @morinMutationalStructuralAnalysis2013; @spinaGeneticsNodalMarginal2016]||
27
+|[CHD8](CHD8)|Tier 1 GE[@]||[@grandeGenomewideDiscoverySomatic2019]||
28
+|[CIITA](CIITA)|Tier 1 GE[@mottokGenomicAlterationsCIITA2015], FE[@mottokGenomicAlterationsCIITA2015], aSHM|[Mottok et al](papers/mottokGenomicAlterationsCIITA2015)|[@morinFrequentMutationHistonemodifying2011]||
29
+|[CISH](CISH)|Tier 1 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|||
30
+|[CREBBP](CREBBP)|Tier 1 GE[@dunsCharacterizationDLBCLPMBL2021], FE[@pasqualucciInactivatingMutationsAcetyltransferase2011]|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@loveGeneticLandscapeMutations2012; @parryWholeExomeSequencing2013; @pasqualucciInactivatingMutationsAcetyltransferase2011]||
31
+|[CSF2RB](CSF2RB)|Tier 1 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
32
+|[DDX3X](DDX3X)|Tier 1 GE[@mottokIntegrativeGenomicAnalysis2019], FE[@gongSequentialInverseDysregulation2021]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@reddyGeneticFunctionalDrivers2017; @schmitzBurkittLymphomaPathogenesis2012]||
33
+|[DTX1](DTX1)|Tier 1 GE[@gomezUltraDeepSequencingReveals2023], aSHM|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)|[@loveGeneticLandscapeMutations2012; @rossiCodingGenomeSplenic2012; @zhangGeneticHeterogeneityDiffuse2013]||
34
+|[DUSP2](DUSP2)|Tier 1 GE[@dunsCharacterizationDLBCLPMBL2021], aSHM|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012]||
35
+|[EBF1](EBF1)|Tier 1 GE[@reichelFlowSortingExome2015], FE[@ramirez-komoSpontaneousLossLineage2017], aSHM|[Reichel et al](papers/reichelFlowSortingExome2015)|[@bohleRoleEarlyBcell2013; @drevalGeneticSubdivisionsFollicular2023; @thomasGeneticSubgroupsInform2023]||
36
+|[EEF1A1](EEF1A1)|Tier 1 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@chapuyMolecularSubtypesDiffuse2018; @hubschmannMutationalMechanismsShaping2021]||
37
+|[ETS1](ETS1)|Tier 1 GE[@], aSHM||[@morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019]||
38
+|[EWSR1](EWSR1)|Tier 1 GE[@]||[@pararajalingamCodingNoncodingDrivers2020]||
39
+|[EZH2](EZH2)|Tier 1 GE[@mottokIntegrativeGenomicAnalysis2019], FE[@sneeringerCoordinatedActivitiesWildtype2010]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@loveGeneticLandscapeMutations2012; @morinSomaticMutationsAltering2010]||
40
+|[FAS](FAS)|Tier 1 GE[@], FE[@wangFasFADDDeathDomain2010]||[@morinFrequentMutationHistonemodifying2011; @schollMutationsRegionFAS2007; @spinaGeneticsNodalMarginal2016]||
41
+|[FAT1](FAT1)|Tier 1 GE[@]||[@spinaGeneticsNodalMarginal2016]||
42
+|[FAT4](FAT4)|Tier 1 GE[@]||[@morinMutationalStructuralAnalysis2013; @parryWholeExomeSequencing2013; @zhangGenomicLandscapeMantle2014]||
43
+|[GNA13](GNA13)|Tier 1 GE[@reichelFlowSortingExome2015], FE[@muppidiLossSignalingGa132014]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@loveGeneticLandscapeMutations2012; @morinFrequentMutationHistonemodifying2011]||
44
+|[HIST1H1B](HIST1H1B)|Tier 1 GE[@sarkozyMutationalLandscapeGray2021], aSHM|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@chapuyMolecularSubtypesDiffuse2018; @krysiakRecurrentSomaticMutations2017]||
45
+|[HIST1H1C](HIST1H1C)|Tier 1 GE[@], aSHM||[@morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019]||
46
+|[HIST1H1D](HIST1H1D)|Tier 1 GE[@], aSHM||[@jalladesExomeSequencingIdentifies2017; @krysiakRecurrentSomaticMutations2017; @morinMutationalStructuralAnalysis2013]||
47
+|[HIST1H1E](HIST1H1E)|Tier 1 GE[@reichelFlowSortingExome2015], aSHM|[Reichel et al](papers/reichelFlowSortingExome2015)|[@grandeGenomewideDiscoverySomatic2019; @krysiakRecurrentSomaticMutations2017; @lohrDiscoveryPrioritizationSomatic2012]||
48
+|[HLA-B](HLA-B)|Tier 1 GE[@wienandGenomicAnalysesFlowsorted2019], FE[@fangazioGeneticMechanismsHLAI2021]|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019)|[@lohrDiscoveryPrioritizationSomatic2012]||
49
+|[IL4R](IL4R)|Tier 1 GE[@viganoSomaticIL4RMutations2018], FE[@viganoSomaticIL4RMutations2018], aSHM|[Vigano et al](papers/viganoSomaticIL4RMutations2018)|[@dunsCharacterizationDLBCLPMBL2021]||
50
+|[IRF8](IRF8)|Tier 1 GE[@mottokIntegrativeGenomicAnalysis2019], FE[@qiuIRF8mutantCellLymphoma2024], aSHM|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019]||
51
+|[ITPKB](ITPKB)|Tier 1 GE[@reichelFlowSortingExome2015], FE[@tiacciPervasiveMutationsJAKSTAT2018], aSHM|[Reichel et al](papers/reichelFlowSortingExome2015)|[@drevalGeneticSubdivisionsFollicular2023; @schmitzGeneticsPathogenesisDiffuse2018]||
52
+|[JAK1](JAK1)|Tier 1 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@reddyGeneticFunctionalDrivers2017]||
53
+|[KMT2C](KMT2C)|Tier 1 GE[@sarkozyMutationalLandscapeGray2021]|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@zhangGeneticHeterogeneityDiffuse2013; @zhangGenomicLandscapeMantle2014; @zhouSporadicEndemicBurkitt2019]||
54
+|[LTB](LTB)|Tier 1 GE[@deschGenotypingCirculatingTumor2020], aSHM|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|[@chapuyMolecularSubtypesDiffuse2018; @drevalGeneticSubdivisionsFollicular2023]||
55
+|[MAP3K14](MAP3K14)|Tier 1 GE[@ottoGeneticLesionsTRAF32012]|[Otto et al](papers/ottoGeneticLesionsTRAF32012)|[@rossiAlterationBIRC3Multiple2011]||
56
+|[MS4A1](MS4A1)|Tier 1 GE[@mottokIntegrativeGenomicAnalysis2019], FE[@rushtonGeneticEvolutionaryPatterns2020], aSHM|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@rushtonGeneticEvolutionaryPatterns2020]||
57
+|[NFKBIA](NFKBIA)|Tier 1 GE[@wienandGenomicAnalysesFlowsorted2019], FE[@jungnickelClonalDeleteriousMutations2000]|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019)|[@russler-germainMutationsAssociatedProgression2023; @thomasMutationalAnalysisIkappaBalpha2004]||
58
+|[NFKBIE](NFKBIE)|Tier 1 GE[@mansouriFrequentNFKBIEDeletions2016], FE[@mansouriFunctionalLossIkBe2015]|[Mansouri et al](papers/mansouriFrequentNFKBIEDeletions2016)|[@morinGeneticLandscapesRelapsed2016; @pararajalingamCodingNoncodingDrivers2020]||
59
+|[OSBPL10](OSBPL10)|Tier 1 GE[@], aSHM||[@zhangGeneticHeterogeneityDiffuse2013]||
60
+|[P2RY8](P2RY8)|Tier 1 GE[@], FE[@muppidiLossSignalingGa132014]||[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012; @muppidiLossSignalingGa132014]||
61
+|[PCLO](PCLO)|Tier 1 GE[@]||[@lohrDiscoveryPrioritizationSomatic2012]||
62
+|[PHIP](PHIP)|Tier 1 GE[@]||||
63
+|[PIM1](PIM1)|Tier 1 GE[@dunsCharacterizationDLBCLPMBL2021], FE[@kuoRolePIM1Ibrutinibresistant2016], aSHM|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@burkhardtClinicalRelevanceMolecular2022; @drevalGeneticSubdivisionsFollicular2023; @pasqualucciHypermutationMultipleProtooncogenes2001]||
64
+|[PIM2](PIM2)|Tier 1 GE[@reichelFlowSortingExome2015], aSHM|[Reichel et al](papers/reichelFlowSortingExome2015)|[@reddyGeneticFunctionalDrivers2017]||
65
+|[PRKDC](PRKDC)|Tier 1 GE[@]||[@hubschmannMutationalMechanismsShaping2021; @schmitzGeneticsPathogenesisDiffuse2018]||
66
+|[PTPN1](PTPN1)|Tier 1 GE[@gunawardanaRecurrentSomaticMutations2014]|[Gunawardana et al](papers/gunawardanaRecurrentSomaticMutations2014)|||
67
+|[PTPRD](PTPRD)|Tier 1 GE[@]||[@drevalGeneticSubdivisionsFollicular2023; @spinaGeneticsNodalMarginal2016]||
68
+|[RHOA](RHOA)|Tier 1 GE[@], FE[@ohayreInactivatingMutationsGNA132016]||[@richterRecurrentMutationID32012; @zhangGeneticHeterogeneityDiffuse2013]||
69
+|[S1PR2](S1PR2)|Tier 1 GE[@], FE[@muppidiLossSignalingGa132014], aSHM||[@drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @muppidiLossSignalingGa132014]||
70
+|[SGK1](SGK1)|Tier 1 GE[@dunsCharacterizationDLBCLPMBL2021], FE[@gaoSGK1MutationsDLBCL2021], aSHM|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@morinFrequentMutationHistonemodifying2011]||
71
+|[SIN3A](SIN3A)|Tier 1 GE[@]||[@chapuyMolecularSubtypesDiffuse2018; @grandeGenomewideDiscoverySomatic2019; @rossiCodingGenomeSplenic2012]||
72
+|[SMARCA2](SMARCA2)|Tier 1 GE[@]||||
73
+|[SMARCA4](SMARCA4)|Tier 1 GE[@], FE[@fernandoFunctionalCharacterizationSMARCA42020]||[@krysiakRecurrentSomaticMutations2017; @nadeuGenomicEpigenomicInsights2020b; @reddyGeneticFunctionalDrivers2017; @richterRecurrentMutationID32012]||
74
+|[SOCS1](SOCS1)|Tier 1 GE[@wenigerMutationsTumorSuppressor2006], FE[@melznerBiallelicMutationSOCS12005], aSHM|[Weniger et al](papers/wenigerMutationsTumorSuppressor2006)|[@drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011]||
75
+|[SPEN](SPEN)|Tier 1 GE[@sarkozyMutationalLandscapeGray2021]|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@albuquerqueEnhancingKnowledgeDiscovery2017; @rossiCodingGenomeSplenic2012]||
76
+|[STAT3](STAT3)|Tier 1 GE[@], FE[@huNovelMissenseM206K2013]||[@morinFrequentMutationHistonemodifying2011]||
77
+|[STAT6](STAT6)|Tier 1 GE[@ritzRecurrentMutationsSTAT62009], FE[@mentzPARP14NovelTarget2022]|[Ritz et al](papers/ritzRecurrentMutationsSTAT62009)|[@yildizActivatingSTAT6Mutations2015]||
78
+|[TAP1](TAP1)|Tier 1 GE[@]||[@schmitzGeneticsPathogenesisDiffuse2018]||
79
+|[TBL1XR1](TBL1XR1)|Tier 1 GE[@], FE[@venturuttiTBL1XR1MutationsDrive2020]||[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012; @rossiCodingGenomeSplenic2012]||
80
+|[TCF3](TCF3)|Tier 1 GE[@]||[@schmitzBurkittLymphomaPathogenesis2012]||
81
+|[TET3](TET3)|Tier 1 GE[@]||||
82
+|[TMSB4X](TMSB4X)|Tier 1 GE[@], aSHM||[@drevalGeneticSubdivisionsFollicular2023; @reddyGeneticFunctionalDrivers2017]||
83
+|[TNFAIP3](TNFAIP3)|Tier 1 GE[@schmitzTNFAIP3A20Tumor2009], FE[@compagnoMutationsMultipleGenes2009]|[Schmitz et al](papers/schmitzTNFAIP3A20Tumor2009)|[@compagnoMutationsMultipleGenes2009; @drevalGeneticSubdivisionsFollicular2023; @rossiAlterationBIRC3Multiple2011]||
84
+|[TNFRSF1B](TNFRSF1B)|Tier 1 GE[@]||||
85
+|[TP53](TP53)|Tier 1 GE[@tiacciPervasiveMutationsJAKSTAT2018], FE[@katoUnderstandingFunctionstructureFunctionmutation2003]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|[@beaLandscapeSomaticMutations2013; @morinFrequentMutationHistonemodifying2011; @rossiCodingGenomeSplenic2012; @wildaInactivationARFMDM2p53Pathway2004]||
86
+|[TRAF3](TRAF3)|Tier 1 GE[@ottoGeneticLesionsTRAF32012]|[Otto et al](papers/ottoGeneticLesionsTRAF32012)|[@pasqualucciAnalysisCodingGenome2011; @rossiAlterationBIRC3Multiple2011]||
87
+|[UBE2A](UBE2A)|Tier 1 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@lohrDiscoveryPrioritizationSomatic2012]||
88
+|[UBR5](UBR5)|Tier 1 GE[@]||[@albuquerqueEnhancingKnowledgeDiscovery2017; @pararajalingamCodingNoncodingDrivers2020]||
89
+|[UNC5C](UNC5C)|Tier 1 GE[@]||[@lohrDiscoveryPrioritizationSomatic2012]||
90
+|[VPS13B](VPS13B)|Tier 1 GE[@]||||
91
+|[WEE1](WEE1)|Tier 1 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@schmitzGeneticsPathogenesisDiffuse2018]||
92
+|[XPO1](XPO1)|Tier 1 GE[@jardinRecurrentMutationsExportin2016], FE[@miloudiXPO1E571KMutationModifies2020]|[Jardin et al](papers/jardinRecurrentMutationsExportin2016)|[@mareschalWholeExomeSequencing2016]||
93
+|[ZFP36L1](ZFP36L1)|Tier 1 GE[@reichelFlowSortingExome2015], aSHM|[Reichel et al](papers/reichelFlowSortingExome2015)|[@morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019]||
94 94
95
-## Tier 2 PMBL genes
95
+## Tier 2, low-confidence PMBL genes
96 96
97 97
### *82 total*
98 98
99
-|Gene|Tier| First PMBL evidence | Other entities |
100
-|:-:|:-:|:--|:-|
101
-|[ABCA13](ABCA13)|2|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@spinaGeneticsNodalMarginal2016b]|
102
-|[ACTG1](ACTG1)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]|[@spinaGeneticsNodalMarginal2016b; @hubschmannMutationalMechanismsShaping2021b]|
103
-|[AKAP6](AKAP6)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]||
104
-|[ARIH2](ARIH2)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
105
-|[AXDND1](AXDND1)|2|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)[@gomezUltraDeepSequencingReveals2023]||
106
-|[BCL2](BCL2)|2|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@tanakaFrequentIncidenceSomatic1992; @burkhardtClinicalRelevanceMolecular2022b; @morinFrequentMutationHistonemodifying2011]|
107
-|[BCL7A](BCL7A)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@krysiakRecurrentSomaticMutations2017b; @grandeGenomewideDiscoverySomatic2019; @zhangGeneticHeterogeneityDiffuse2013]|
108
-|[BIRC3](BIRC3)|2|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@rossiAlterationBIRC3Multiple2011a; @beaLandscapeSomaticMutations2013; @arthurGenomewideDiscoverySomatic2018]|
109
-|[CCND3](CCND3)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]|[@morinFrequentMutationHistonemodifying2011; @jalladesExomeSequencingIdentifies2017; @richterRecurrentMutationID32012a]|
110
-|[CDH2](CDH2)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]||
111
-|[CDH5](CDH5)|2|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)[@gomezUltraDeepSequencingReveals2023]||
112
-|[CXCR5](CXCR5)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@schmitzGeneticsPathogenesisDiffuse2018a]|
113
-|[DGKB](DGKB)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]||
114
-|[DMD](DMD)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
115
-|[DNAH12](DNAH12)|2|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019b)[@wienandGenomicAnalysesFlowsorted2019b]||
116
-|[EGR1](EGR1)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@rossiCodingGenomeSplenic2012c; @krysiakRecurrentSomaticMutations2017b]|
117
-|[EPHA7](EPHA7)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@zhangGeneticHeterogeneityDiffuse2013]|
118
-|[EZR](EZR)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]||
119
-|[FOXO1](FOXO1)|2|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@schmitzBurkittLymphomaPathogenesis2012; @morinFrequentMutationHistonemodifying2011]|
120
-|[GCSAM](GCSAM)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]||
121
-|[GPR126](GPR126)|2|[Weniger et al](papers/wenigerMutationsTumorSuppressor2006a)[@wenigerMutationsTumorSuppressor2006a]||
122
-|[HECW2](HECW2)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
123
-|[HELLS](HELLS)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
124
-|[HIST1H2BC](HIST1H2BC)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@krysiakRecurrentSomaticMutations2017b; @lohrDiscoveryPrioritizationSomatic2012a]|
125
-|[HIST1H3B](HIST1H3B)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@lohrDiscoveryPrioritizationSomatic2012a]|
126
-|[HIST1H4C](HIST1H4C)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
127
-|[HIST1H4E](HIST1H4E)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]||
128
-|[HIST1H4J](HIST1H4J)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@paneaWholeGenomeLandscape2019]|
129
-|[HLA-A](HLA-A)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]|[@lohrDiscoveryPrioritizationSomatic2012a]|
130
-|[HLA-C](HLA-C)|2|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)[@gomezUltraDeepSequencingReveals2023]|[@chapuyMolecularSubtypesDiffuse2018b]|
131
-|[HRNR](HRNR)|2|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]||
132
-|[IGLL5](IGLL5)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]|[@paneaWholeGenomeLandscape2019; @russler-germainMutationsAssociatedProgression2023b; @chapuyMolecularSubtypesDiffuse2018b]|
133
-|[IKBKB](IKBKB)|2|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019b)[@wienandGenomicAnalysesFlowsorted2019b]|[@reddyGeneticFunctionalDrivers2017; @rossiAlterationBIRC3Multiple2011a]|
134
-|[IL13RA1](IL13RA1)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]||
135
-|[IL1RAPL2](IL1RAPL2)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]||
136
-|[IRF2BP2](IRF2BP2)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]||
137
-|[IRF4](IRF4)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@morinFrequentMutationHistonemodifying2011]|
138
-|[ITGB2](ITGB2)|2|||
139
-|[ITPR3](ITPR3)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]|[@loveGeneticLandscapeMutations2012]|
140
-|[JUNB](JUNB)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@reddyGeneticFunctionalDrivers2017]|
141
-|[KLF2](KLF2)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]|[@pasqualucciAnalysisCodingGenome2011; @jalladesExomeSequencingIdentifies2017]|
142
-|[KMT2D](KMT2D)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]|[@beaLandscapeSomaticMutations2013; @morinFrequentMutationHistonemodifying2011; @rossiCodingGenomeSplenic2012c; @grandeGenomewideDiscoverySomatic2019]|
143
-|[LIMD2](LIMD2)|2|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)[@gomezUltraDeepSequencingReveals2023]||
144
-|[LPHN3](LPHN3)|2|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]||
145
-|[LRRN3](LRRN3)|2|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@zhangGeneticHeterogeneityDiffuse2013]|
146
-|[MAGEC2](MAGEC2)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]||
147
-|[MCL1](MCL1)|2|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@reddyGeneticFunctionalDrivers2017; @paneaWholeGenomeLandscape2019]|
148
-|[MFHAS1](MFHAS1)|2|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]||
149
-|[MPDZ](MPDZ)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@morinMutationalStructuralAnalysis2013]|
150
-|[MYB](MYB)|2|[Desch et al](papers/deschGenotypingCirculatingTumor2020)[@deschGenotypingCirculatingTumor2020]|[@reddyGeneticFunctionalDrivers2017]|
151
-|[MYC](MYC)|2|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@pasqualucciHypermutationMultipleProtooncogenes2001a; @johnstonCmycHypermutationBurkitt1992; @jalladesExomeSequencingIdentifies2017]|
152
-|[NCOR2](NCOR2)|2|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@schmitzBurkittLymphomaPathogenesis2012; @spinaGeneticsNodalMarginal2016b]|
153
-|[NEK1](NEK1)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
154
-|[NFKB2](NFKB2)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@reddyGeneticFunctionalDrivers2017]|
155
-|[NSD2](NSD2)|2||[@zhangGeneticHeterogeneityDiffuse2013; @beaLandscapeSomaticMutations2013]|
156
-|[NUP214](NUP214)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]||
157
-|[OR13C2](OR13C2)|2|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)[@gomezUltraDeepSequencingReveals2023]||
158
-|[PCBP1](PCBP1)|2||[@schmitzBurkittLymphomaPathogenesis2012]|
159
-|[PCDH7](PCDH7)|2||[@zhangGeneticHeterogeneityDiffuse2013]|
160
-|[PRUNE2](PRUNE2)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]||
161
-|[RANBP2](RANBP2)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
162
-|[RBM38](RBM38)|2|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019b)[@wienandGenomicAnalysesFlowsorted2019b]||
163
-|[RDH12](RDH12)|2|||
164
-|[RELN](RELN)|2|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021a)[@sarkozyMutationalLandscapeGray2021a]|[@zhangGeneticHeterogeneityDiffuse2013]|
165
-|[RFTN1](RFTN1)|2|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]|[@arthurGenomewideDiscoverySomatic2018]|
166
-|[RGS1](RGS1)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]|[@zhangGeneticHeterogeneityDiffuse2013]|
167
-|[SCN9A](SCN9A)|2|||
168
-|[SENP7](SENP7)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
169
-|[SETD5](SETD5)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]|[@reddyGeneticFunctionalDrivers2017]|
170
-|[SETDB1](SETDB1)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
171
-|[SIAH2](SIAH2)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@hubschmannMutationalMechanismsShaping2021b]|
172
-|[SMAD3](SMAD3)|2|||
173
-|[STAT5B](STAT5B)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]|[@zhangGeneticHeterogeneityDiffuse2013]|
174
-|[STRAP](STRAP)|2|||
175
-|[TBC1D15](TBC1D15)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
176
-|[TICRR](TICRR)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]||
177
-|[TNIP1](TNIP1)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]||
178
-|[TRIP11](TRIP11)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@zhangGeneticHeterogeneityDiffuse2013]|
179
-|[VMP1](VMP1)|2|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019b)[@mottokIntegrativeGenomicAnalysis2019b]||
180
-|[WDR87](WDR87)|2|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021b)[@dunsCharacterizationDLBCLPMBL2021b]||
181
-|[ZCCHC11](ZCCHC11)|2|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018b)[@tiacciPervasiveMutationsJAKSTAT2018b]||
182
-|[ZNF217](ZNF217)|2|[Reichel et al](papers/reichelFlowSortingExome2015a)[@reichelFlowSortingExome2015a]|[@hubschmannMutationalMechanismsShaping2021b]|
99
+|Gene|Summary| First PMBL study | Other entities | QC result |
100
+|:-:|:--:|:-:|:-|:-|
101
+|[ABCA13](ABCA13)|Tier 2 GE[@sarkozyMutationalLandscapeGray2021]|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@spinaGeneticsNodalMarginal2016]||
102
+|[ACTG1](ACTG1)|Tier 2 GE[@deschGenotypingCirculatingTumor2020], aSHM|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|[@fanComprehensiveCharacterizationDriver2020; @hubschmannMutationalMechanismsShaping2021; @spinaGeneticsNodalMarginal2016]||
103
+|[AKAP6](AKAP6)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|||
104
+|[ARIH2](ARIH2)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
105
+|[AXDND1](AXDND1)|Tier 2 GE[@gomezUltraDeepSequencingReveals2023]|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)|||
106
+|[BCL2](BCL2)|Tier 2 GE[@sarkozyMutationalLandscapeGray2021], aSHM|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@burkhardtClinicalRelevanceMolecular2022; @morinFrequentMutationHistonemodifying2011; @tanakaFrequentIncidenceSomatic1992]||
107
+|[BCL7A](BCL7A)|Tier 2 GE[@reichelFlowSortingExome2015], FE[@balinas-gaviraFrequentMutationsAminoterminal2020], aSHM|[Reichel et al](papers/reichelFlowSortingExome2015)|[@grandeGenomewideDiscoverySomatic2019; @krysiakRecurrentSomaticMutations2017; @morinFrequentMutationHistonemodifying2011]||
108
+|[BIRC3](BIRC3)|Tier 2 GE[@dunsCharacterizationDLBCLPMBL2021], aSHM|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@arthurGenomewideDiscoverySomatic2018; @beaLandscapeSomaticMutations2013; @rossiAlterationBIRC3Multiple2011]||
109
+|[CCND3](CCND3)|Tier 2 GE[@deschGenotypingCirculatingTumor2020], FE[@schmitzBurkittLymphomaPathogenesis2012]|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|[@jalladesExomeSequencingIdentifies2017; @morinFrequentMutationHistonemodifying2011; @richterRecurrentMutationID32012]||
110
+|[CDH2](CDH2)|Tier 2 GE[@deschGenotypingCirculatingTumor2020]|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|||
111
+|[CDH5](CDH5)|Tier 2 GE[@gomezUltraDeepSequencingReveals2023]|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)|||
112
+|[CXCR5](CXCR5)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@schmitzGeneticsPathogenesisDiffuse2018]||
113
+|[DGKB](DGKB)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|||
114
+|[DMD](DMD)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
115
+|[DNAH12](DNAH12)|Tier 2 GE[@wienandGenomicAnalysesFlowsorted2019]|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019)|||
116
+|[EGR1](EGR1)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@krysiakRecurrentSomaticMutations2017; @rossiCodingGenomeSplenic2012]||
117
+|[EPHA7](EPHA7)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@zhangGeneticHeterogeneityDiffuse2013]||
118
+|[EZR](EZR)|Tier 2 GE[@deschGenotypingCirculatingTumor2020], aSHM|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|||
119
+|[FOXO1](FOXO1)|Tier 2 GE[@dunsCharacterizationDLBCLPMBL2021], FE[@trinhAnalysisFOXO1Mutations]|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@morinFrequentMutationHistonemodifying2011; @schmitzBurkittLymphomaPathogenesis2012]||
120
+|[GCSAM](GCSAM)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|||
121
+|[GPR126](GPR126)|Tier 2 GE[@wenigerMutationsTumorSuppressor2006]|[Weniger et al](papers/wenigerMutationsTumorSuppressor2006)|||
122
+|[HECW2](HECW2)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
123
+|[HELLS](HELLS)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
124
+|[HIST1H2BC](HIST1H2BC)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019], aSHM|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@krysiakRecurrentSomaticMutations2017; @lohrDiscoveryPrioritizationSomatic2012]||
125
+|[HIST1H3B](HIST1H3B)|Tier 2 GE[@reichelFlowSortingExome2015], aSHM|[Reichel et al](papers/reichelFlowSortingExome2015)|[@lohrDiscoveryPrioritizationSomatic2012]||
126
+|[HIST1H4C](HIST1H4C)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
127
+|[HIST1H4E](HIST1H4E)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|||
128
+|[HIST1H4J](HIST1H4J)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@paneaWholeGenomeLandscape2019]||
129
+|[HLA-A](HLA-A)|Tier 2 GE[@deschGenotypingCirculatingTumor2020], FE[@fangazioGeneticMechanismsHLAI2021]|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|[@lohrDiscoveryPrioritizationSomatic2012]||
130
+|[HLA-C](HLA-C)|Tier 2 GE[@gomezUltraDeepSequencingReveals2023], FE[@fangazioGeneticMechanismsHLAI2021]|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)|[@chapuyMolecularSubtypesDiffuse2018]||
131
+|[HRNR](HRNR)|Tier 2 GE[@dunsCharacterizationDLBCLPMBL2021]|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|||
132
+|[IGLL5](IGLL5)|Tier 2 GE[@deschGenotypingCirculatingTumor2020], aSHM|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|[@chapuyMolecularSubtypesDiffuse2018; @paneaWholeGenomeLandscape2019; @russler-germainMutationsAssociatedProgression2023]||
133
+|[IKBKB](IKBKB)|Tier 2 GE[@wienandGenomicAnalysesFlowsorted2019]|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019)|[@reddyGeneticFunctionalDrivers2017; @rossiAlterationBIRC3Multiple2011]||
134
+|[IL13RA1](IL13RA1)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|||
135
+|[IL1RAPL2](IL1RAPL2)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|||
136
+|[IRF2BP2](IRF2BP2)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|||
137
+|[IRF4](IRF4)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019], aSHM|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011]||
138
+|[ITGB2](ITGB2)|Tier 2 GE[@]||||
139
+|[ITPR3](ITPR3)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|[@loveGeneticLandscapeMutations2012]||
140
+|[JUNB](JUNB)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@lohrDiscoveryPrioritizationSomatic2012]||
141
+|[KLF2](KLF2)|Tier 2 GE[@deschGenotypingCirculatingTumor2020], aSHM|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|[@drevalGeneticSubdivisionsFollicular2023; @jalladesExomeSequencingIdentifies2017; @pasqualucciAnalysisCodingGenome2011]||
142
+|[KMT2D](KMT2D)|Tier 2 GE[@deschGenotypingCirculatingTumor2020], FE[@zhangDisruptionKMT2DPerturbs2015]|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|[@beaLandscapeSomaticMutations2013; @grandeGenomewideDiscoverySomatic2019; @morinFrequentMutationHistonemodifying2011; @rossiCodingGenomeSplenic2012]||
143
+|[LIMD2](LIMD2)|Tier 2 GE[@gomezUltraDeepSequencingReveals2023]|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)|||
144
+|[LPHN3](LPHN3)|Tier 2 GE[@dunsCharacterizationDLBCLPMBL2021]|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|||
145
+|[LRRN3](LRRN3)|Tier 2 GE[@sarkozyMutationalLandscapeGray2021]|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@zhangGeneticHeterogeneityDiffuse2013]||
146
+|[MAGEC2](MAGEC2)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|||
147
+|[MCL1](MCL1)|Tier 2 GE[@dunsCharacterizationDLBCLPMBL2021]|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@paneaWholeGenomeLandscape2019; @reddyGeneticFunctionalDrivers2017]||
148
+|[MFHAS1](MFHAS1)|Tier 2 GE[@sarkozyMutationalLandscapeGray2021]|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|||
149
+|[MPDZ](MPDZ)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@morinMutationalStructuralAnalysis2013]||
150
+|[MYB](MYB)|Tier 2 GE[@deschGenotypingCirculatingTumor2020]|[Desch et al](papers/deschGenotypingCirculatingTumor2020)|[@reddyGeneticFunctionalDrivers2017]||
151
+|[MYC](MYC)|Tier 2 GE[@dunsCharacterizationDLBCLPMBL2021], FE[@freieGermlinePointMutation2024], aSHM|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@jalladesExomeSequencingIdentifies2017; @johnstonCmycHypermutationBurkitt1992; @pasqualucciHypermutationMultipleProtooncogenes2001]||
152
+|[NCOR2](NCOR2)|Tier 2 GE[@sarkozyMutationalLandscapeGray2021]|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@schmitzBurkittLymphomaPathogenesis2012; @spinaGeneticsNodalMarginal2016]||
153
+|[NEK1](NEK1)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
154
+|[NFKB2](NFKB2)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@reddyGeneticFunctionalDrivers2017]||
155
+|[NSD2](NSD2)|Tier 2 GE[@]||[@beaLandscapeSomaticMutations2013; @zhangGeneticHeterogeneityDiffuse2013]||
156
+|[NUP214](NUP214)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|||
157
+|[OR13C2](OR13C2)|Tier 2 GE[@gomezUltraDeepSequencingReveals2023]|[Gomez et al](papers/gomezUltraDeepSequencingReveals2023)|||
158
+|[PCBP1](PCBP1)|Tier 2 GE[@]||[@schmitzBurkittLymphomaPathogenesis2012]||
159
+|[PCDH7](PCDH7)|Tier 2 GE[@]||[@zhangGeneticHeterogeneityDiffuse2013]||
160
+|[PRUNE2](PRUNE2)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|||
161
+|[RANBP2](RANBP2)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
162
+|[RBM38](RBM38)|Tier 2 GE[@wienandGenomicAnalysesFlowsorted2019]|[Wienand et al](papers/wienandGenomicAnalysesFlowsorted2019)|||
163
+|[RDH12](RDH12)|Tier 2 GE[@]||||
164
+|[RELN](RELN)|Tier 2 GE[@sarkozyMutationalLandscapeGray2021]|[Sarkozy et al](papers/sarkozyMutationalLandscapeGray2021)|[@zhangGeneticHeterogeneityDiffuse2013]||
165
+|[RFTN1](RFTN1)|Tier 2 GE[@dunsCharacterizationDLBCLPMBL2021], aSHM|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|[@arthurGenomewideDiscoverySomatic2018]||
166
+|[RGS1](RGS1)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|[@zhangGeneticHeterogeneityDiffuse2013]||
167
+|[SCN9A](SCN9A)|Tier 2 GE[@]||||
168
+|[SENP7](SENP7)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
169
+|[SETD5](SETD5)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|[@reddyGeneticFunctionalDrivers2017]||
170
+|[SETDB1](SETDB1)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
171
+|[SIAH2](SIAH2)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@hubschmannMutationalMechanismsShaping2021]||
172
+|[SMAD3](SMAD3)|Tier 2 GE[@]||||
173
+|[STAT5B](STAT5B)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|[@reddyGeneticFunctionalDrivers2017]||
174
+|[STRAP](STRAP)|Tier 2 GE[@]||||
175
+|[TBC1D15](TBC1D15)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
176
+|[TICRR](TICRR)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|||
177
+|[TNIP1](TNIP1)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|||
178
+|[TRIP11](TRIP11)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@zhangGeneticHeterogeneityDiffuse2013]||
179
+|[VMP1](VMP1)|Tier 2 GE[@mottokIntegrativeGenomicAnalysis2019]|[Mottok et al](papers/mottokIntegrativeGenomicAnalysis2019)|||
180
+|[WDR87](WDR87)|Tier 2 GE[@dunsCharacterizationDLBCLPMBL2021]|[Duns et al](papers/dunsCharacterizationDLBCLPMBL2021)|||
181
+|[ZCCHC11](ZCCHC11)|Tier 2 GE[@tiacciPervasiveMutationsJAKSTAT2018]|[Tiacci et al](papers/tiacciPervasiveMutationsJAKSTAT2018)|||
182
+|[ZNF217](ZNF217)|Tier 2 GE[@reichelFlowSortingExome2015]|[Reichel et al](papers/reichelFlowSortingExome2015)|[@hubschmannMutationalMechanismsShaping2021]||
183 183
184
-## Tier 3 PMBL genes
184
+## Tier 3, retired PMBL genes
185 185
186 186
### *0 total*
187 187
188
-|Gene|Tier| First PMBL evidence | Other entities |
189
-|:-:|:-:|:--|:-|
188
+|Gene|Summary| First PMBL study | Other entities | QC result |
189
+|:-:|:--:|:-:|:-|:-|
190 190
191 191
192 192
# References