BL_genes.md
... ...
@@ -13,43 +13,43 @@ link-citations: true
13 13
14 14
### *29 total*
15 15
16
-|Gene|Tier| Earliest reference | Other references|
16
+|Gene|Tier| First BL evidence | Other entities |
17 17
|:-:|:-:|:-|:-|
18
-|[ARID1A](ARID1A)|1|[@loveGeneticLandscapeMutations2012]|[@wienandGenomicAnalysesFlowsorted2019b; @krysiakRecurrentSomaticMutations2017b; @rossiCodingGenomeSplenic2012c; @zhangGeneticHeterogeneityDiffuse2013]|
19
-|[BCL7A](BCL7A)|1, aSHM|[@grandeGenomewideDiscoverySomatic2019]|[@reichelFlowSortingExome2015a; @krysiakRecurrentSomaticMutations2017b; @arthurGenomewideDiscoverySomatic2018]|
18
+|[ARID1A](ARID1A)|1|[@loveGeneticLandscapeMutations2012]|[@krysiakRecurrentSomaticMutations2017b; @zhangGeneticHeterogeneityDiffuse2013; @rossiCodingGenomeSplenic2012c; @wienandGenomicAnalysesFlowsorted2019b]|
19
+|[BCL7A](BCL7A)|1, aSHM|[@grandeGenomewideDiscoverySomatic2019]|[@arthurGenomewideDiscoverySomatic2018; @reichelFlowSortingExome2015a; @krysiakRecurrentSomaticMutations2017b]|
20 20
|[BMP7](BMP7)|1|[@paneaWholeGenomeLandscape2019]||
21
-|[CCND3](CCND3)|1|[@richterRecurrentMutationID32012a]|[@deschGenotypingCirculatingTumor2020; @morinFrequentMutationHistonemodifying2011; @jalladesExomeSequencingIdentifies2017]|
21
+|[CCND3](CCND3)|1|[@richterRecurrentMutationID32012a]|[@deschGenotypingCirculatingTumor2020; @jalladesExomeSequencingIdentifies2017; @morinFrequentMutationHistonemodifying2011]|
22 22
|[CHD8](CHD8)|1|[@grandeGenomewideDiscoverySomatic2019]|[@reddyGeneticFunctionalDrivers2017]|
23
-|[DDX3X](DDX3X)|1|[@schmitzBurkittLymphomaPathogenesis2012]|[@schmitzGeneticsPathogenesisDiffuse2018a; @mottokIntegrativeGenomicAnalysis2019b]|
23
+|[DDX3X](DDX3X)|1|[@schmitzBurkittLymphomaPathogenesis2012]|[@mottokIntegrativeGenomicAnalysis2019b; @schmitzGeneticsPathogenesisDiffuse2018a]|
24 24
|[EIF4A1](EIF4A1)|1|[@paneaWholeGenomeLandscape2019]||
25 25
|[EPPK1](EPPK1)|1|[@paneaWholeGenomeLandscape2019]||
26
-|[FBXO11](FBXO11)|1|[@richterRecurrentMutationID32012a]|[@parryWholeExomeSequencing2013; @hubschmannMutationalMechanismsShaping2021b]|
27
-|[FOXO1](FOXO1)|1|[@schmitzBurkittLymphomaPathogenesis2012]|[@dunsCharacterizationDLBCLPMBL2021b; @morinFrequentMutationHistonemodifying2011]|
28
-|[GNA13](GNA13)|1|[@loveGeneticLandscapeMutations2012]|[@morinFrequentMutationHistonemodifying2011; @reichelFlowSortingExome2015a]|
26
+|[FBXO11](FBXO11)|1|[@richterRecurrentMutationID32012a]|[@hubschmannMutationalMechanismsShaping2021b; @parryWholeExomeSequencing2013]|
27
+|[FOXO1](FOXO1)|1|[@schmitzBurkittLymphomaPathogenesis2012]|[@morinFrequentMutationHistonemodifying2011; @dunsCharacterizationDLBCLPMBL2021b]|
28
+|[GNA13](GNA13)|1|[@loveGeneticLandscapeMutations2012]|[@reichelFlowSortingExome2015a; @morinFrequentMutationHistonemodifying2011]|
29 29
|[GNAI2](GNAI2)|1|[@grandeGenomewideDiscoverySomatic2019]|[@morinMutationalStructuralAnalysis2013]|
30 30
|[HNRNPU](HNRNPU)|1, aSHM|[@paneaWholeGenomeLandscape2019]|[@reddyGeneticFunctionalDrivers2017]|
31
-|[ID3](ID3)|1|[@richterRecurrentMutationID32012a]|[@spinaGeneticsNodalMarginal2016b; @schmitzBurkittLymphomaPathogenesis2012]|
32
-|[KMT2D](KMT2D)|1|[@grandeGenomewideDiscoverySomatic2019]|[@rossiCodingGenomeSplenic2012c; @morinFrequentMutationHistonemodifying2011; @beaLandscapeSomaticMutations2013; @deschGenotypingCirculatingTumor2020]|
33
-|[MYC](MYC)|1, aSHM|[@johnstonCmycHypermutationBurkitt1992]|[@jalladesExomeSequencingIdentifies2017; @pasqualucciHypermutationMultipleProtooncogenes2001a; @dunsCharacterizationDLBCLPMBL2021b]|
31
+|[ID3](ID3)|1|[@richterRecurrentMutationID32012a]|[@schmitzBurkittLymphomaPathogenesis2012; @spinaGeneticsNodalMarginal2016b]|
32
+|[KMT2D](KMT2D)|1|[@grandeGenomewideDiscoverySomatic2019]|[@rossiCodingGenomeSplenic2012c; @beaLandscapeSomaticMutations2013; @deschGenotypingCirculatingTumor2020; @morinFrequentMutationHistonemodifying2011]|
33
+|[MYC](MYC)|1, aSHM|[@johnstonCmycHypermutationBurkitt1992]|[@jalladesExomeSequencingIdentifies2017; @dunsCharacterizationDLBCLPMBL2021b; @pasqualucciHypermutationMultipleProtooncogenes2001a]|
34 34
|[P2RY8](P2RY8)|1|[@muppidiLossSignalingGa132014b]|[@lohrDiscoveryPrioritizationSomatic2012a]|
35 35
|[PHF6](PHF6)|1|[@thomasGeneticSubgroupsInform2023]|[@reddyGeneticFunctionalDrivers2017]|
36 36
|[PTEN](PTEN)|1|[@loveGeneticLandscapeMutations2012]||
37 37
|[RFX7](RFX7)|1|[@grandeGenomewideDiscoverySomatic2019]||
38 38
|[RHOA](RHOA)|1|[@richterRecurrentMutationID32012a]||
39 39
|[SIN3A](SIN3A)|1|[@grandeGenomewideDiscoverySomatic2019]|[@rossiCodingGenomeSplenic2012c]|
40
-|[SMARCA4](SMARCA4)|1|[@richterRecurrentMutationID32012a]|[@nadeuGenomicEpigenomicInsights2020b; @krysiakRecurrentSomaticMutations2017b; @zhangGeneticHeterogeneityDiffuse2013]|
40
+|[SMARCA4](SMARCA4)|1|[@richterRecurrentMutationID32012a]|[@zhangGeneticHeterogeneityDiffuse2013; @krysiakRecurrentSomaticMutations2017b; @nadeuGenomicEpigenomicInsights2020b]|
41 41
|[TCF3](TCF3)|1|[@schmitzBurkittLymphomaPathogenesis2012]||
42 42
|[TCL1A](TCL1A)|1, aSHM|[@grandeGenomewideDiscoverySomatic2019]||
43 43
|[TFAP4](TFAP4)|1|[@grandeGenomewideDiscoverySomatic2019]||
44
-|[TP53](TP53)|1|[@wildaInactivationARFMDM2p53Pathway2004]|[@tiacciPervasiveMutationsJAKSTAT2018b; @beaLandscapeSomaticMutations2013; @morinFrequentMutationHistonemodifying2011; @rossiCodingGenomeSplenic2012c]|
44
+|[TP53](TP53)|1|[@wildaInactivationARFMDM2p53Pathway2004]|[@morinFrequentMutationHistonemodifying2011; @beaLandscapeSomaticMutations2013; @rossiCodingGenomeSplenic2012c; @tiacciPervasiveMutationsJAKSTAT2018b]|
45 45
|[USP7](USP7)|1|[@grandeGenomewideDiscoverySomatic2019]||
46
-|[WNK1](WNK1)|1|[@thomasGeneticSubgroupsInform2023]|[@hubschmannMutationalMechanismsShaping2021b; @jalladesExomeSequencingIdentifies2017]|
46
+|[WNK1](WNK1)|1|[@thomasGeneticSubgroupsInform2023]|[@jalladesExomeSequencingIdentifies2017; @hubschmannMutationalMechanismsShaping2021b]|
47 47
48 48
## Tier 2 BL genes
49 49
50 50
### *157 total*
51 51
52
-|Gene|Tier| Earliest reference | Other references|
52
+|Gene|Tier| First BL evidence | Other entities |
53 53
|:-:|:-:|:-|:-|
54 54
|[ACAD9](ACAD9)|2|[@loveGeneticLandscapeMutations2012]||
55 55
|[ACE](ACE)|2|[@loveGeneticLandscapeMutations2012]||
... ...
@@ -69,13 +69,13 @@ link-citations: true
69 69
|[C16orf48](C16orf48)|2|[@schmitzBurkittLymphomaPathogenesis2012]||
70 70
|[C6orf27](C6orf27)|2|[@loveGeneticLandscapeMutations2012]||
71 71
|[CAD](CAD)|2|[@loveGeneticLandscapeMutations2012]||
72
-|[CARD11](CARD11)|2|[@paneaWholeGenomeLandscape2019]|[@lenzOncogenicCARD11Mutations2008; @yanBCRTLRSignaling2012a; @morinFrequentMutationHistonemodifying2011; @wuGeneticHeterogeneityPrimary2016]|
72
+|[CARD11](CARD11)|2|[@paneaWholeGenomeLandscape2019]|[@lenzOncogenicCARD11Mutations2008; @wuGeneticHeterogeneityPrimary2016; @morinFrequentMutationHistonemodifying2011; @yanBCRTLRSignaling2012a]|
73 73
|[CARD4](CARD4)|2|[@loveGeneticLandscapeMutations2012]||
74 74
|[CCNF](CCNF)|2|[@abateDistinctViralMutational2015a]||
75 75
|[CCT6B](CCT6B)|2|[@loveGeneticLandscapeMutations2012]||
76 76
|[CD79A](CD79A)|2|[@burkhardtClinicalRelevanceMolecular2022b]|[@rossiCodingGenomeSplenic2012c]|
77 77
|[CD79B](CD79B)|2|[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011]|
78
-|[CD83](CD83)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@morinMutationalStructuralAnalysis2013; @dunsCharacterizationDLBCLPMBL2021b; @russler-germainMutationsAssociatedProgression2023b]|
78
+|[CD83](CD83)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@dunsCharacterizationDLBCLPMBL2021b; @morinMutationalStructuralAnalysis2013; @russler-germainMutationsAssociatedProgression2023b]|
79 79
|[CDC73](CDC73)|2|[@loveGeneticLandscapeMutations2012]|[@reddyGeneticFunctionalDrivers2017]|
80 80
|[CDH17](CDH17)|2|[@loveGeneticLandscapeMutations2012]||
81 81
|[CDKN2A](CDKN2A)|2|[@grandeGenomewideDiscoverySomatic2019]|[@morinMutationalStructuralAnalysis2013; @spinaGeneticsNodalMarginal2016b]|
... ...
@@ -85,13 +85,13 @@ link-citations: true
85 85
|[CPXM2](CPXM2)|2|[@burkhardtClinicalRelevanceMolecular2022b]||
86 86
|[CREBBP](CREBBP)|2|[@loveGeneticLandscapeMutations2012]|[@parryWholeExomeSequencing2013; @pasqualucciInactivatingMutationsAcetyltransferase2011a; @dunsCharacterizationDLBCLPMBL2021b]|
87 87
|[CTCF](CTCF)|2|[@paneaWholeGenomeLandscape2019]||
88
-|[CXCR4](CXCR4)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@khodabakhshiRecurrentTargetsAberrant2012; @krysiakRecurrentSomaticMutations2017b]|
88
+|[CXCR4](CXCR4)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b; @khodabakhshiRecurrentTargetsAberrant2012]|
89 89
|[CYB5D1](CYB5D1)|2|[@loveGeneticLandscapeMutations2012]||
90 90
|[CYP4F22](CYP4F22)|2|[@loveGeneticLandscapeMutations2012]||
91 91
|[DHCR7](DHCR7)|2|[@schmitzBurkittLymphomaPathogenesis2012]||
92 92
|[DLGAP1](DLGAP1)|2|[@loveGeneticLandscapeMutations2012]||
93 93
|[DNMT1](DNMT1)|2|[@paneaWholeGenomeLandscape2019]||
94
-|[DTX1](DTX1)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@gomezUltraDeepSequencingReveals2023; @schmitzGeneticsPathogenesisDiffuse2018a; @rossiCodingGenomeSplenic2012c]|
94
+|[DTX1](DTX1)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@rossiCodingGenomeSplenic2012c; @schmitzGeneticsPathogenesisDiffuse2018a; @gomezUltraDeepSequencingReveals2023]|
95 95
|[E2F2](E2F2)|2|[@burkhardtClinicalRelevanceMolecular2022b]||
96 96
|[EBF1](EBF1)|2, aSHM|[@thomasGeneticSubgroupsInform2023]|[@reichelFlowSortingExome2015a; @bohleRoleEarlyBcell2013]|
97 97
|[EDNRB](EDNRB)|2|[@burkhardtClinicalRelevanceMolecular2022b]||
... ...
@@ -100,12 +100,12 @@ link-citations: true
100 100
|[ELP2](ELP2)|2|[@schmitzBurkittLymphomaPathogenesis2012]||
101 101
|[EML2](EML2)|2|[@loveGeneticLandscapeMutations2012]||
102 102
|[ENTPD3](ENTPD3)|2|[@loveGeneticLandscapeMutations2012]||
103
-|[EP300](EP300)|2|[@paneaWholeGenomeLandscape2019]|[@pasqualucciInactivatingMutationsAcetyltransferase2011a; @rossiCodingGenomeSplenic2012c]|
103
+|[EP300](EP300)|2|[@paneaWholeGenomeLandscape2019]|[@rossiCodingGenomeSplenic2012c; @pasqualucciInactivatingMutationsAcetyltransferase2011a]|
104 104
|[EPHB2](EPHB2)|2|[@loveGeneticLandscapeMutations2012]||
105 105
|[ERAP1](ERAP1)|2|[@burkhardtClinicalRelevanceMolecular2022b]||
106 106
|[ETS1](ETS1)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011]|
107 107
|[EXOSC6](EXOSC6)|2|[@schmitzBurkittLymphomaPathogenesis2012]||
108
-|[EZH2](EZH2)|2|[@loveGeneticLandscapeMutations2012]|[@morinSomaticMutationsAltering2010a; @mottokIntegrativeGenomicAnalysis2019b]|
108
+|[EZH2](EZH2)|2|[@loveGeneticLandscapeMutations2012]|[@mottokIntegrativeGenomicAnalysis2019b; @morinSomaticMutationsAltering2010a]|
109 109
|[FAM129B](FAM129B)|2|[@loveGeneticLandscapeMutations2012]||
110 110
|[FGFR3](FGFR3)|2|[@loveGeneticLandscapeMutations2012]||
111 111
|[FLYWCH1](FLYWCH1)|2|[@schmitzBurkittLymphomaPathogenesis2012]||
... ...
@@ -116,8 +116,8 @@ link-citations: true
116 116
|[GRIK5](GRIK5)|2|[@loveGeneticLandscapeMutations2012]||
117 117
|[GTSE1](GTSE1)|2|[@schmitzBurkittLymphomaPathogenesis2012]||
118 118
|[HIST1H1C](HIST1H1C)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@morinFrequentMutationHistonemodifying2011]|
119
-|[HIST1H1E](HIST1H1E)|2, aSHM|[@grandeGenomewideDiscoverySomatic2019]|[@krysiakRecurrentSomaticMutations2017b; @morinMutationalStructuralAnalysis2013; @reichelFlowSortingExome2015a]|
120
-|[HIST1H2AG](HIST1H2AG)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b; @rossiCodingGenomeSplenic2012c; @morinMutationalStructuralAnalysis2013]|
119
+|[HIST1H1E](HIST1H1E)|2, aSHM|[@grandeGenomewideDiscoverySomatic2019]|[@morinMutationalStructuralAnalysis2013; @krysiakRecurrentSomaticMutations2017b; @reichelFlowSortingExome2015a]|
120
+|[HIST1H2AG](HIST1H2AG)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@rossiCodingGenomeSplenic2012c; @morinMutationalStructuralAnalysis2013; @krysiakRecurrentSomaticMutations2017b]|
121 121
|[HIST1H2AM](HIST1H2AM)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@krysiakRecurrentSomaticMutations2017b]|
122 122
|[HIST1H2BK](HIST1H2BK)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@rossiCodingGenomeSplenic2012c]|
123 123
|[HIST1H3D](HIST1H3D)|2, aSHM|[@paneaWholeGenomeLandscape2019]||
... ...
@@ -139,7 +139,7 @@ link-citations: true
139 139
|[KIFC3](KIFC3)|2|[@loveGeneticLandscapeMutations2012]||
140 140
|[KLHL26](KLHL26)|2|[@burkhardtClinicalRelevanceMolecular2022b]||
141 141
|[KLHL6](KLHL6)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@ganapathiGeneticLandscapeDural2016; @morinFrequentMutationHistonemodifying2011]|
142
-|[KMT2C](KMT2C)|2|[@zhouSporadicEndemicBurkitt2019]|[@zhangGeneticHeterogeneityDiffuse2013; @zhangGenomicLandscapeMantle2014; @sarkozyMutationalLandscapeGray2021a]|
142
+|[KMT2C](KMT2C)|2|[@zhouSporadicEndemicBurkitt2019]|[@zhangGenomicLandscapeMantle2014; @zhangGeneticHeterogeneityDiffuse2013; @sarkozyMutationalLandscapeGray2021a]|
143 143
|[LTB](LTB)|2, aSHM|[@paneaWholeGenomeLandscape2019]|[@deschGenotypingCirculatingTumor2020; @chapuyMolecularSubtypesDiffuse2018b]|
144 144
|[MAP3K6](MAP3K6)|2|[@loveGeneticLandscapeMutations2012]||
145 145
|[MCL1](MCL1)|2|[@paneaWholeGenomeLandscape2019]|[@reddyGeneticFunctionalDrivers2017; @dunsCharacterizationDLBCLPMBL2021b]|
... ...
@@ -150,9 +150,9 @@ link-citations: true
150 150
|[MYH10](MYH10)|2|[@loveGeneticLandscapeMutations2012]||
151 151
|[MYO18A](MYO18A)|2|[@schmitzBurkittLymphomaPathogenesis2012]||
152 152
|[NBEAL1](NBEAL1)|2|[@loveGeneticLandscapeMutations2012]||
153
-|[NCOR2](NCOR2)|2|[@schmitzBurkittLymphomaPathogenesis2012]|[@sarkozyMutationalLandscapeGray2021a; @spinaGeneticsNodalMarginal2016b]|
153
+|[NCOR2](NCOR2)|2|[@schmitzBurkittLymphomaPathogenesis2012]|[@spinaGeneticsNodalMarginal2016b; @sarkozyMutationalLandscapeGray2021a]|
154 154
|[NOA1](NOA1)|2|[@burkhardtClinicalRelevanceMolecular2022b]||
155
-|[NOTCH1](NOTCH1)|2|[@loveGeneticLandscapeMutations2012]|[@beaLandscapeSomaticMutations2013; @rossiCodingGenomeSplenic2012c; @pasqualucciAnalysisCodingGenome2011]|
155
+|[NOTCH1](NOTCH1)|2|[@loveGeneticLandscapeMutations2012]|[@pasqualucciAnalysisCodingGenome2011; @beaLandscapeSomaticMutations2013; @rossiCodingGenomeSplenic2012c]|
156 156
|[NOTCH2](NOTCH2)|2|[@paneaWholeGenomeLandscape2019]|[@troenNOTCH2MutationsMarginal2008; @beaLandscapeSomaticMutations2013; @rossiCodingGenomeSplenic2012c]|
157 157
|[NRXN2](NRXN2)|2|[@loveGeneticLandscapeMutations2012]||
158 158
|[P2RY2](P2RY2)|2|[@loveGeneticLandscapeMutations2012]||
... ...
@@ -163,7 +163,7 @@ link-citations: true
163 163
|[PDCD11](PDCD11)|2|[@schmitzBurkittLymphomaPathogenesis2012]||
164 164
|[PDZRN3](PDZRN3)|2|[@paneaWholeGenomeLandscape2019]||
165 165
|[PIK3R1](PIK3R1)|2|[@paneaWholeGenomeLandscape2019]|[@zhangGeneticHeterogeneityDiffuse2013]|
166
-|[PIM1](PIM1)|2, aSHM|[@burkhardtClinicalRelevanceMolecular2022b]|[@dunsCharacterizationDLBCLPMBL2021b; @pasqualucciHypermutationMultipleProtooncogenes2001a]|
166
+|[PIM1](PIM1)|2, aSHM|[@burkhardtClinicalRelevanceMolecular2022b]|[@pasqualucciHypermutationMultipleProtooncogenes2001a; @dunsCharacterizationDLBCLPMBL2021b]|
167 167
|[PLCG2](PLCG2)|2|[@paneaWholeGenomeLandscape2019]||
168 168
|[POLRMT](POLRMT)|2|[@loveGeneticLandscapeMutations2012]||
169 169
|[POR](POR)|2|[@loveGeneticLandscapeMutations2012]||