BL_genes.md
... ...
@@ -15,114 +15,106 @@ link-citations: true
15 15
16 16
|Gene|Tier| First BL evidence | Other entities |
17 17
|:-:|:-:|:--|:-|
18
-|[ARID1A](ARID1A)|1|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@zhangGeneticHeterogeneityDiffuse2013; @krysiakRecurrentSomaticMutations2017b; @rossiCodingGenomeSplenic2012c; @wienandGenomicAnalysesFlowsorted2019b]|
19
-|[BCL7A](BCL7A)|1, aSHM|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@arthurGenomewideDiscoverySomatic2018; @krysiakRecurrentSomaticMutations2017b; @reichelFlowSortingExome2015a]|
18
+|[ARID1A](ARID1A)|1|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@wienandGenomicAnalysesFlowsorted2019b; @zhangGeneticHeterogeneityDiffuse2013; @krysiakRecurrentSomaticMutations2017b; @rossiCodingGenomeSplenic2012c]|
19
+|[BCL7A](BCL7A)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@zhangGeneticHeterogeneityDiffuse2013; @krysiakRecurrentSomaticMutations2017b; @reichelFlowSortingExome2015a]|
20 20
|[BMP7](BMP7)|1|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
21
-|[CCND3](CCND3)|1-EE|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]|[@morinFrequentMutationHistonemodifying2011; @deschGenotypingCirculatingTumor2020; @jalladesExomeSequencingIdentifies2017]|
22
-|[CHD8](CHD8)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@reddyGeneticFunctionalDrivers2017]|
21
+|[CCND3](CCND3)|1|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]|[@jalladesExomeSequencingIdentifies2017; @deschGenotypingCirculatingTumor2020; @morinFrequentMutationHistonemodifying2011]|
22
+|[CHD8](CHD8)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]||
23 23
|[DDX3X](DDX3X)|1|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]|[@schmitzGeneticsPathogenesisDiffuse2018a; @mottokIntegrativeGenomicAnalysis2019b]|
24 24
|[EIF4A1](EIF4A1)|1|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
25 25
|[EPPK1](EPPK1)|1|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
26
-|[FBXO11](FBXO11)|1|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]|[@hubschmannMutationalMechanismsShaping2021b; @parryWholeExomeSequencing2013]|
27
-|[FOXO1](FOXO1)|1|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]|[@dunsCharacterizationDLBCLPMBL2021b; @morinFrequentMutationHistonemodifying2011]|
26
+|[FBXO11](FBXO11)|1|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]|[@parryWholeExomeSequencing2013; @hubschmannMutationalMechanismsShaping2021b]|
27
+|[FOXO1](FOXO1)|1|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]|[@morinFrequentMutationHistonemodifying2011; @dunsCharacterizationDLBCLPMBL2021b]|
28 28
|[GNA13](GNA13)|1|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@reichelFlowSortingExome2015a; @morinFrequentMutationHistonemodifying2011]|
29 29
|[GNAI2](GNAI2)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@morinMutationalStructuralAnalysis2013]|
30
-|[HNRNPU](HNRNPU)|1, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@reddyGeneticFunctionalDrivers2017]|
30
+|[HNRNPU](HNRNPU)|1|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@reddyGeneticFunctionalDrivers2017]|
31 31
|[ID3](ID3)|1|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]|[@spinaGeneticsNodalMarginal2016b; @schmitzBurkittLymphomaPathogenesis2012]|
32
-|[KMT2D](KMT2D)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@rossiCodingGenomeSplenic2012c; @deschGenotypingCirculatingTumor2020; @beaLandscapeSomaticMutations2013; @morinFrequentMutationHistonemodifying2011]|
33
-|[MYC](MYC)|1, aSHM|[Johnston et al](papers/johnstonCmycHypermutationBurkitt1992)[@johnstonCmycHypermutationBurkitt1992]|[@pasqualucciHypermutationMultipleProtooncogenes2001a; @jalladesExomeSequencingIdentifies2017; @dunsCharacterizationDLBCLPMBL2021b]|
32
+|[KMT2D](KMT2D)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@morinFrequentMutationHistonemodifying2011; @deschGenotypingCirculatingTumor2020; @beaLandscapeSomaticMutations2013; @rossiCodingGenomeSplenic2012c]|
33
+|[MYC](MYC)|1|[Johnston et al](papers/johnstonCmycHypermutationBurkitt1992)[@johnstonCmycHypermutationBurkitt1992]|[@jalladesExomeSequencingIdentifies2017; @pasqualucciHypermutationMultipleProtooncogenes2001a; @dunsCharacterizationDLBCLPMBL2021b]|
34 34
|[P2RY8](P2RY8)|1|[Muppidi et al](papers/muppidiLossSignalingGa132014b)[@muppidiLossSignalingGa132014b]|[@lohrDiscoveryPrioritizationSomatic2012a]|
35 35
|[PHF6](PHF6)|1|[Thomas et al](papers/thomasGeneticSubgroupsInform2023)[@thomasGeneticSubgroupsInform2023]|[@reddyGeneticFunctionalDrivers2017]|
36 36
|[PTEN](PTEN)|1|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
37 37
|[RFX7](RFX7)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]||
38
-|[RHOA](RHOA)|1|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]||
38
+|[RHOA](RHOA)|1|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]|[@zhangGeneticHeterogeneityDiffuse2013]|
39 39
|[SIN3A](SIN3A)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@rossiCodingGenomeSplenic2012c]|
40
-|[SMARCA4](SMARCA4)|1-EE|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]|[@lohrDiscoveryPrioritizationSomatic2012a; @krysiakRecurrentSomaticMutations2017b; @nadeuGenomicEpigenomicInsights2020b]|
40
+|[SMARCA4](SMARCA4)|1|[Richter et al](papers/richterRecurrentMutationID32012a)[@richterRecurrentMutationID32012a]|[@krysiakRecurrentSomaticMutations2017b; @nadeuGenomicEpigenomicInsights2020b; @lohrDiscoveryPrioritizationSomatic2012a]|
41 41
|[TCF3](TCF3)|1|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
42
-|[TCL1A](TCL1A)|1, aSHM|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]||
42
+|[TCL1A](TCL1A)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]||
43 43
|[TFAP4](TFAP4)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]||
44
-|[TP53](TP53)|1|[Wilda et al](papers/wildaInactivationARFMDM2p53Pathway2004)[@wildaInactivationARFMDM2p53Pathway2004]|[@tiacciPervasiveMutationsJAKSTAT2018b; @rossiCodingGenomeSplenic2012c; @lohrDiscoveryPrioritizationSomatic2012a; @morinFrequentMutationHistonemodifying2011; @beaLandscapeSomaticMutations2013]|
44
+|[TP53](TP53)|1|[Wilda et al](papers/wildaInactivationARFMDM2p53Pathway2004)[@wildaInactivationARFMDM2p53Pathway2004]|[@morinFrequentMutationHistonemodifying2011; @beaLandscapeSomaticMutations2013; @tiacciPervasiveMutationsJAKSTAT2018b; @rossiCodingGenomeSplenic2012c; @lohrDiscoveryPrioritizationSomatic2012a]|
45 45
|[USP7](USP7)|1|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]||
46
-|[WNK1](WNK1)|1|[Thomas et al](papers/thomasGeneticSubgroupsInform2023)[@thomasGeneticSubgroupsInform2023]|[@hubschmannMutationalMechanismsShaping2021b; @jalladesExomeSequencingIdentifies2017]|
46
+|[WNK1](WNK1)|1|[Thomas et al](papers/thomasGeneticSubgroupsInform2023)[@thomasGeneticSubgroupsInform2023]|[@jalladesExomeSequencingIdentifies2017; @hubschmannMutationalMechanismsShaping2021b]|
47 47
48 48
## Tier 2 BL genes
49 49
50
-### *152 total*
50
+### *75 total*
51 51
52
-### This includes *70 genes failed QC (2-F)
53 52
|Gene|Tier| First BL evidence | Other entities |
54 53
|:-:|:-:|:--|:-|
55 54
|[ADAMTS5](ADAMTS5)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
56 55
|[ADNP](ADNP)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
57 56
|[AGO4](AGO4)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
58 57
|[ARHGEF1](ARHGEF1)|2|[Muppidi et al](papers/muppidiLossSignalingGa132014b)[@muppidiLossSignalingGa132014b]||
59
-|[BACH2](BACH2)|2, aSHM|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]||
60
-|[BCL2](BCL2)|2, aSHM|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]|[@sarkozyMutationalLandscapeGray2021a; @morinFrequentMutationHistonemodifying2011; @tanakaFrequentIncidenceSomatic1992]|
61
-|[BCL6](BCL6)|2, aSHM|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@morinFrequentMutationHistonemodifying2011]|
62
-|[BTG1](BTG1)|2, aSHM|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]|[@sarkozyMutationalLandscapeGray2021a; @morinFrequentMutationHistonemodifying2011]|
58
+|[BACH2](BACH2)|2|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]||
59
+|[BCL2](BCL2)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]|[@tanakaFrequentIncidenceSomatic1992; @sarkozyMutationalLandscapeGray2021a; @morinFrequentMutationHistonemodifying2011]|
60
+|[BCL6](BCL6)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@morinFrequentMutationHistonemodifying2011]|
61
+|[BTG1](BTG1)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]|[@morinFrequentMutationHistonemodifying2011; @sarkozyMutationalLandscapeGray2021a]|
63 62
|[C16orf48](C16orf48)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
64
-|[CARD11](CARD11)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@wuGeneticHeterogeneityPrimary2016; @lenzOncogenicCARD11Mutations2008; @yanBCRTLRSignaling2012a; @morinFrequentMutationHistonemodifying2011]|
65 63
|[CARD4](CARD4)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
66
-|[CCNF](CCNF)|2|[Abate et al](papers/abateDistinctViralMutational2015a)[@abateDistinctViralMutational2015a]||
64
+|[CCNF](CCNF)|2|[Abate et al](papers/abateDistinctViralMutational2015a)[@abateDistinctViralMutational2015a]|[@zhangGeneticHeterogeneityDiffuse2013]|
67 65
|[CD79A](CD79A)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]|[@rossiCodingGenomeSplenic2012c]|
68
-|[CD83](CD83)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinMutationalStructuralAnalysis2013; @dunsCharacterizationDLBCLPMBL2021b; @russler-germainMutationsAssociatedProgression2023b]|
66
+|[CD83](CD83)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@dunsCharacterizationDLBCLPMBL2021b; @russler-germainMutationsAssociatedProgression2023b; @morinMutationalStructuralAnalysis2013]|
69 67
|[CDC73](CDC73)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@reddyGeneticFunctionalDrivers2017]|
70 68
|[CDKN2A](CDKN2A)|2|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@morinMutationalStructuralAnalysis2013; @spinaGeneticsNodalMarginal2016b]|
71 69
|[CDKN2C](CDKN2C)|2|[Thomas et al](papers/thomasGeneticSubgroupsInform2023)[@thomasGeneticSubgroupsInform2023]||
72 70
|[CHD4](CHD4)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
73 71
|[CPXM2](CPXM2)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
74
-|[CREBBP](CREBBP)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@parryWholeExomeSequencing2013; @dunsCharacterizationDLBCLPMBL2021b; @pasqualucciInactivatingMutationsAcetyltransferase2011a]|
75
-|[CXCR4](CXCR4)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b; @khodabakhshiRecurrentTargetsAberrant2012]|
72
+|[CREBBP](CREBBP)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@dunsCharacterizationDLBCLPMBL2021b; @pasqualucciInactivatingMutationsAcetyltransferase2011a; @parryWholeExomeSequencing2013]|
73
+|[CXCR4](CXCR4)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b; @khodabakhshiRecurrentTargetsAberrant2012]|
76 74
|[DHCR7](DHCR7)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
77 75
|[E2F2](E2F2)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
78
-|[EBF1](EBF1)|2, aSHM|[Thomas et al](papers/thomasGeneticSubgroupsInform2023)[@thomasGeneticSubgroupsInform2023]|[@bohleRoleEarlyBcell2013; @reichelFlowSortingExome2015a]|
76
+|[EBF1](EBF1)|2|[Thomas et al](papers/thomasGeneticSubgroupsInform2023)[@thomasGeneticSubgroupsInform2023]|[@reichelFlowSortingExome2015a; @bohleRoleEarlyBcell2013]|
79 77
|[EDNRB](EDNRB)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
80 78
|[EHD1](EHD1)|2|[Thomas et al](papers/thomasGeneticSubgroupsInform2023)[@thomasGeneticSubgroupsInform2023]||
81 79
|[ELP2](ELP2)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
82
-|[EP300](EP300)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@rossiCodingGenomeSplenic2012c; @pasqualucciInactivatingMutationsAcetyltransferase2011a]|
83 80
|[ERAP1](ERAP1)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
84 81
|[EXOSC6](EXOSC6)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
85
-|[EZH2](EZH2)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@mottokIntegrativeGenomicAnalysis2019b; @morinSomaticMutationsAltering2010a]|
82
+|[EZH2](EZH2)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@morinSomaticMutationsAltering2010a; @mottokIntegrativeGenomicAnalysis2019b]|
86 83
|[FLYWCH1](FLYWCH1)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
87 84
|[GGTLA4](GGTLA4)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
88
-|[GRB2](GRB2)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@pasqualucciAnalysisCodingGenome2011]|
89 85
|[GTSE1](GTSE1)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
90
-|[HIST1H1E](HIST1H1E)|2, aSHM|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@krysiakRecurrentSomaticMutations2017b; @lohrDiscoveryPrioritizationSomatic2012a; @reichelFlowSortingExome2015a]|
91
-|[HIST1H3D](HIST1H3D)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
92
-|[HIST1H3I](HIST1H3I)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b]|
93
-|[HIST1H4J](HIST1H4J)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@mottokIntegrativeGenomicAnalysis2019b]|
86
+|[HIST1H1E](HIST1H1E)|2|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@reichelFlowSortingExome2015a; @krysiakRecurrentSomaticMutations2017b; @lohrDiscoveryPrioritizationSomatic2012a]|
87
+|[HIST1H3D](HIST1H3D)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
88
+|[HIST1H3I](HIST1H3I)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b]|
89
+|[HIST1H4J](HIST1H4J)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@mottokIntegrativeGenomicAnalysis2019b]|
94 90
|[HLA-DQB1](HLA-DQB1)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
95
-|[IGLL5](IGLL5)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@russler-germainMutationsAssociatedProgression2023b; @deschGenotypingCirculatingTumor2020]|
96
-|[IKZF3](IKZF3)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinMutationalStructuralAnalysis2013]|
97
-|[IRF8](IRF8)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011; @mottokIntegrativeGenomicAnalysis2019b]|
91
+|[IGLL5](IGLL5)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@russler-germainMutationsAssociatedProgression2023b; @deschGenotypingCirculatingTumor2020]|
92
+|[IKZF3](IKZF3)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinMutationalStructuralAnalysis2013]|
93
+|[IRF8](IRF8)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011; @mottokIntegrativeGenomicAnalysis2019b]|
98 94
|[KANK2](KANK2)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
99 95
|[KLHL26](KLHL26)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
100
-|[KLHL6](KLHL6)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011; @ganapathiGeneticLandscapeDural2016]|
101 96
|[KMT2C](KMT2C)|2|[Zhou et al](papers/zhouSporadicEndemicBurkitt2019)[@zhouSporadicEndemicBurkitt2019]|[@zhangGeneticHeterogeneityDiffuse2013; @zhangGenomicLandscapeMantle2014; @sarkozyMutationalLandscapeGray2021a]|
102
-|[LTB](LTB)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@chapuyMolecularSubtypesDiffuse2018b; @deschGenotypingCirculatingTumor2020]|
103
-|[MCL1](MCL1)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@reddyGeneticFunctionalDrivers2017; @dunsCharacterizationDLBCLPMBL2021b]|
104
-|[MIR142](MIR142)|2, aSHM|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@kwanhianMicroRNA142Mutated202012b]|
97
+|[MCL1](MCL1)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@dunsCharacterizationDLBCLPMBL2021b; @reddyGeneticFunctionalDrivers2017]|
98
+|[MIR142](MIR142)|2|[Grande et al](papers/grandeGenomewideDiscoverySomatic2019)[@grandeGenomewideDiscoverySomatic2019]|[@kwanhianMicroRNA142Mutated202012b]|
105 99
|[MKI67](MKI67)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]|[@russler-germainMutationsAssociatedProgression2023b]|
106 100
|[MYO18A](MYO18A)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
107 101
|[NBEAL1](NBEAL1)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
108 102
|[NCOR2](NCOR2)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]|[@sarkozyMutationalLandscapeGray2021a; @spinaGeneticsNodalMarginal2016b]|
109 103
|[NOA1](NOA1)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
110
-|[NOTCH2](NOTCH2)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@rossiCodingGenomeSplenic2012c; @troenNOTCH2MutationsMarginal2008; @beaLandscapeSomaticMutations2013]|
111 104
|[P2RY2](P2RY2)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
112 105
|[PCBP1](PCBP1)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
113 106
|[PDCD11](PDCD11)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
114
-|[PIM1](PIM1)|2, aSHM|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]|[@dunsCharacterizationDLBCLPMBL2021b; @pasqualucciHypermutationMultipleProtooncogenes2001a]|
115
-|[PLCG2](PLCG2)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
107
+|[PIM1](PIM1)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]|[@dunsCharacterizationDLBCLPMBL2021b; @pasqualucciHypermutationMultipleProtooncogenes2001a]|
108
+|[PLCG2](PLCG2)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@fanComprehensiveCharacterizationDriver2020b]|
116 109
|[PPP6R2](PPP6R2)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
117 110
|[PREX1](PREX1)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
118
-|[RAC2](RAC2)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@hubschmannMutationalMechanismsShaping2021b]|
119 111
|[RANBP6](RANBP6)|2|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
120 112
|[REV3L](REV3L)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
121 113
|[RNF144B](RNF144B)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
122 114
|[RPL10](RPL10)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
123
-|[S1PR2](S1PR2)|2, aSHM|[Muppidi et al](papers/muppidiLossSignalingGa132014b)[@muppidiLossSignalingGa132014b]|[@morinFrequentMutationHistonemodifying2011]|
115
+|[S1PR2](S1PR2)|2|[Muppidi et al](papers/muppidiLossSignalingGa132014b)[@muppidiLossSignalingGa132014b]|[@morinFrequentMutationHistonemodifying2011]|
124 116
|[SAL3](SAL3)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
125
-|[TET2](TET2)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@albuquerqueEnhancingKnowledgeDiscovery2017a]|
117
+|[TET2](TET2)|2|[Thomas et al](papers/thomasGeneticSubgroupsInform2023)[@thomasGeneticSubgroupsInform2023]|[@albuquerqueEnhancingKnowledgeDiscovery2017a]|
126 118
|[TOP2A](TOP2A)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
127 119
|[TTN](TTN)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
128 120
|[VWA7](VWA7)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
... ...
@@ -132,17 +124,24 @@ link-citations: true
132 124
|[YY1AP1](YY1AP1)|2|[Schmitz et al](papers/schmitzBurkittLymphomaPathogenesis2012)[@schmitzBurkittLymphomaPathogenesis2012]||
133 125
|[ZAN](ZAN)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
134 126
|[ZBTB7A](ZBTB7A)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]|[@reddyGeneticFunctionalDrivers2017]|
135
-|[ZFP36L1](ZFP36L1)|2, aSHM|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@reichelFlowSortingExome2015a; @morinFrequentMutationHistonemodifying2011]|
127
+|[ZFP36L1](ZFP36L1)|2|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011; @reichelFlowSortingExome2015a]|
136 128
|[ZNF85](ZNF85)|2|[Burkhardt et al](papers/burkhardtClinicalRelevanceMolecular2022b)[@burkhardtClinicalRelevanceMolecular2022b]||
129
+
130
+## Tier 3 BL genes
131
+
132
+### *70 total*
133
+
134
+|Gene|Tier| First BL evidence | Other entities |
135
+|:-:|:-:|:--|:-|
137 136
|[ACAD9](ACAD9)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
138
-|[ACE](ACE)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
137
+|[ACE](ACE)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@zhangGeneticHeterogeneityDiffuse2013]|
139 138
|[ALPK2](ALPK2)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
140 139
|[ATP2C2](ATP2C2)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
141 140
|[BRAF](BRAF)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@tiacciBRAFMutationsHairycell2011a]|
142
-|[BRD4](BRD4)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
141
+|[BRD4](BRD4)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@zhangGeneticHeterogeneityDiffuse2013]|
143 142
|[BTG2](BTG2)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@morinFrequentMutationHistonemodifying2011]|
144 143
|[C6orf27](C6orf27)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
145
-|[CAD](CAD)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
144
+|[CAD](CAD)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@zhangGeneticHeterogeneityDiffuse2013]|
146 145
|[CCT6B](CCT6B)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
147 146
|[CD79B](CD79B)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011]|
148 147
|[CDH17](CDH17)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
... ...
@@ -150,9 +149,9 @@ link-citations: true
150 149
|[CTCF](CTCF)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
151 150
|[CYB5D1](CYB5D1)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
152 151
|[CYP4F22](CYP4F22)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
153
-|[DLGAP1](DLGAP1)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
152
+|[DLGAP1](DLGAP1)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@zhangGeneticHeterogeneityDiffuse2013]|
154 153
|[DNMT1](DNMT1)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
155
-|[DTX1](DTX1)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@schmitzGeneticsPathogenesisDiffuse2018a; @rossiCodingGenomeSplenic2012c; @gomezUltraDeepSequencingReveals2023]|
154
+|[DTX1](DTX1)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@rossiCodingGenomeSplenic2012c; @gomezUltraDeepSequencingReveals2023; @zhangGeneticHeterogeneityDiffuse2013]|
156 155
|[EIF2C4](EIF2C4)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
157 156
|[EML2](EML2)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
158 157
|[ENTPD3](ENTPD3)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
... ...
@@ -164,7 +163,7 @@ link-citations: true
164 163
|[FZD3](FZD3)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
165 164
|[GRIK5](GRIK5)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
166 165
|[HIST1H1C](HIST1H1C)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011]|
167
-|[HIST1H2AG](HIST1H2AG)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b; @morinMutationalStructuralAnalysis2013; @rossiCodingGenomeSplenic2012c]|
166
+|[HIST1H2AG](HIST1H2AG)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b; @rossiCodingGenomeSplenic2012c; @morinMutationalStructuralAnalysis2013]|
168 167
|[HIST1H2AM](HIST1H2AM)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b]|
169 168
|[HIST1H2BK](HIST1H2BK)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@rossiCodingGenomeSplenic2012c]|
170 169
|[HIST1H3H](HIST1H3H)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
... ...
@@ -177,12 +176,12 @@ link-citations: true
177 176
|[MME](MME)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
178 177
|[MTOR](MTOR)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@zhangGeneticHeterogeneityDiffuse2013]|
179 178
|[MYH10](MYH10)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
180
-|[NOTCH1](NOTCH1)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@rossiCodingGenomeSplenic2012c; @beaLandscapeSomaticMutations2013; @pasqualucciAnalysisCodingGenome2011]|
181
-|[NRXN2](NRXN2)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
179
+|[NOTCH1](NOTCH1)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@pasqualucciAnalysisCodingGenome2011; @rossiCodingGenomeSplenic2012c; @beaLandscapeSomaticMutations2013]|
180
+|[NRXN2](NRXN2)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@zhangGeneticHeterogeneityDiffuse2013]|
182 181
|[PABPC4L](PABPC4L)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
183 182
|[PC](PC)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
184 183
|[PCDHA11](PCDHA11)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
185
-|[PDZRN3](PDZRN3)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
184
+|[PDZRN3](PDZRN3)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@zhangGeneticHeterogeneityDiffuse2013]|
186 185
|[PIK3R1](PIK3R1)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]|[@zhangGeneticHeterogeneityDiffuse2013]|
187 186
|[POLRMT](POLRMT)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
188 187
|[POR](POR)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
... ...
@@ -190,7 +189,7 @@ link-citations: true
190 189
|[PTPRN](PTPRN)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
191 190
|[PXDNL](PXDNL)|2-F|[Panea et al](papers/paneaWholeGenomeLandscape2019)[@paneaWholeGenomeLandscape2019]||
192 191
|[RBP3](RBP3)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
193
-|[RET](RET)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
192
+|[RET](RET)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@fanComprehensiveCharacterizationDriver2020b]|
194 193
|[SALL3](SALL3)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]|[@zhangGenomicLandscapeMantle2014]|
195 194
|[SAPS2](SAPS2)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||
196 195
|[SBF1](SBF1)|2-F|[Love et al](papers/loveGeneticLandscapeMutations2012)[@loveGeneticLandscapeMutations2012]||