Origins of BL genes

Tier 1 BL genes

29 total

Gene Tier First BL evidence Other entities
ARID1A 1 Study Overview1 2,rossiCodingGenomeSplenic2012c?,krysiakRecurrentSomaticMutations2017b?,wienandGenomicAnalysesFlowsorted2019b?
BCL7A 1, aSHM Study Overview3 4,krysiakRecurrentSomaticMutations2017b?,reichelFlowSortingExome2015a?
BMP7 1 Study Overview5
CCND3 1 Study OverviewrichterRecurrentMutationID32012a? 68
CHD8 1 Study Overview3 9
DDX3X 1 Study Overview10 mottokIntegrativeGenomicAnalysis2019b?,schmitzGeneticsPathogenesisDiffuse2018a?
EIF4A1 1 Study Overview5
EPPK1 1 Study Overview5
FBXO11 1 Study OverviewrichterRecurrentMutationID32012a? 11,hubschmannMutationalMechanismsShaping2021b?
FOXO1 1 Study Overview10 6,dunsCharacterizationDLBCLPMBL2021b?
GNA13 1 Study Overview1 6,reichelFlowSortingExome2015a?
GNAI2 1 Study Overview3 12
HNRNPU 1, aSHM Study Overview5 9
ID3 1 Study OverviewrichterRecurrentMutationID32012a? 10,spinaGeneticsNodalMarginal2016b?
KMT2D 1 Study Overview3 6,8,13,rossiCodingGenomeSplenic2012c?
MYC 1, aSHM Study Overview14 7,pasqualucciHypermutationMultipleProtooncogenes2001a?,dunsCharacterizationDLBCLPMBL2021b?
P2RY8 1 Study OverviewmuppidiLossSignalingGa132014b? lohrDiscoveryPrioritizationSomatic2012a?
PHF6 1 Study Overview15 9
PTEN 1 Study Overview1
RFX7 1 Study Overview3
RHOA 1 Study OverviewrichterRecurrentMutationID32012a?
SIN3A 1 Study Overview3 rossiCodingGenomeSplenic2012c?
SMARCA4 1 Study OverviewrichterRecurrentMutationID32012a? nadeuGenomicEpigenomicInsights2020b?,lohrDiscoveryPrioritizationSomatic2012a?,krysiakRecurrentSomaticMutations2017b?
TCF3 1 Study Overview10
TCL1A 1, aSHM Study Overview3
TFAP4 1 Study Overview3
TP53 1 Study Overview16 6,13,tiacciPervasiveMutationsJAKSTAT2018b?,rossiCodingGenomeSplenic2012c?,lohrDiscoveryPrioritizationSomatic2012a?
USP7 1 Study Overview3
WNK1 1 Study Overview15 7,hubschmannMutationalMechanismsShaping2021b?

Tier 2 BL genes

152 total

This includes *70 genes failed QC (2-F)

Gene Tier First BL evidence Other entities
ADAMTS5 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
ADNP 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
AGO4 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
ARHGEF1 2 Study OverviewmuppidiLossSignalingGa132014b?
BACH2 2, aSHM Study Overview3
BCL2 2, aSHM Study OverviewburkhardtClinicalRelevanceMolecular2022b? 6,17,sarkozyMutationalLandscapeGray2021a?
BCL6 2, aSHM Study Overview1 6
BTG1 2, aSHM Study OverviewburkhardtClinicalRelevanceMolecular2022b? 6,sarkozyMutationalLandscapeGray2021a?
C16orf48 2 Study Overview10
CARD11 2 Study Overview5 6,18,19,yanBCRTLRSignaling2012a?
CARD4 2 Study Overview1
CCNF 2 Study OverviewabateDistinctViralMutational2015a?
CD79A 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b? rossiCodingGenomeSplenic2012c?
CD83 2, aSHM Study Overview5 12,dunsCharacterizationDLBCLPMBL2021b?,russler-germainMutationsAssociatedProgression2023b?
CDC73 2 Study Overview1 9
CDKN2A 2 Study Overview3 12,spinaGeneticsNodalMarginal2016b?
CDKN2C 2 Study Overview15
CHD4 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
CPXM2 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
CREBBP 2 Study Overview1 11,pasqualucciInactivatingMutationsAcetyltransferase2011a?,dunsCharacterizationDLBCLPMBL2021b?
CXCR4 2, aSHM Study Overview5 20,krysiakRecurrentSomaticMutations2017b?
DHCR7 2 Study Overview10
E2F2 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
EBF1 2, aSHM Study Overview15 21,reichelFlowSortingExome2015a?
EDNRB 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
EHD1 2 Study Overview15
ELP2 2 Study Overview10
EP300 2 Study Overview5 pasqualucciInactivatingMutationsAcetyltransferase2011a?,rossiCodingGenomeSplenic2012c?
ERAP1 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
EXOSC6 2 Study Overview10
EZH2 2 Study Overview1 mottokIntegrativeGenomicAnalysis2019b?,morinSomaticMutationsAltering2010a?
FLYWCH1 2 Study Overview10
GGTLA4 2 Study Overview1
GRB2 2 Study Overview5 22
GTSE1 2 Study Overview10
HIST1H1E 2, aSHM Study Overview3 krysiakRecurrentSomaticMutations2017b?,lohrDiscoveryPrioritizationSomatic2012a?,reichelFlowSortingExome2015a?
HIST1H3D 2, aSHM Study Overview5
HIST1H3I 2, aSHM Study Overview5 krysiakRecurrentSomaticMutations2017b?
HIST1H4J 2, aSHM Study Overview5 mottokIntegrativeGenomicAnalysis2019b?
HLA-DQB1 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
IGLL5 2, aSHM Study Overview5 8,russler-germainMutationsAssociatedProgression2023b?
IKZF3 2, aSHM Study Overview5 12
IRF8 2, aSHM Study Overview5 6,mottokIntegrativeGenomicAnalysis2019b?
KANK2 2 Study Overview10
KLHL26 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
KLHL6 2, aSHM Study Overview5 6,23
KMT2C 2 Study Overview24 2,25,sarkozyMutationalLandscapeGray2021a?
LTB 2, aSHM Study Overview5 8,chapuyMolecularSubtypesDiffuse2018b?
MCL1 2 Study Overview5 9,dunsCharacterizationDLBCLPMBL2021b?
MIR142 2, aSHM Study Overview3 kwanhianMicroRNA142Mutated202012b?
MKI67 2 Study Overview10 russler-germainMutationsAssociatedProgression2023b?
MYO18A 2 Study Overview10
NBEAL1 2 Study Overview1
NCOR2 2 Study Overview10 sarkozyMutationalLandscapeGray2021a?,spinaGeneticsNodalMarginal2016b?
NOA1 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
NOTCH2 2 Study Overview5 13,26,rossiCodingGenomeSplenic2012c?
P2RY2 2 Study Overview1
PCBP1 2 Study Overview10
PDCD11 2 Study Overview10
PIM1 2, aSHM Study OverviewburkhardtClinicalRelevanceMolecular2022b? pasqualucciHypermutationMultipleProtooncogenes2001a?,dunsCharacterizationDLBCLPMBL2021b?
PLCG2 2 Study Overview5
PPP6R2 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
PREX1 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
RAC2 2 Study Overview5 hubschmannMutationalMechanismsShaping2021b?
RANBP6 2 Study Overview1
REV3L 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
RNF144B 2 Study Overview5
RPL10 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
S1PR2 2, aSHM Study OverviewmuppidiLossSignalingGa132014b? 6
SAL3 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
TET2 2 Study Overview5 albuquerqueEnhancingKnowledgeDiscovery2017a?
TOP2A 2 Study Overview10
TTN 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
VWA7 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
WDR90 2 Study Overview10
WHAMM 2 Study Overview10
WNK2 2 Study Overview5
YY1AP1 2 Study Overview10
ZAN 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
ZBTB7A 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b? 9
ZFP36L1 2, aSHM Study Overview5 6,reichelFlowSortingExome2015a?
ZNF85 2 Study OverviewburkhardtClinicalRelevanceMolecular2022b?
ACAD9 2-F Study Overview1
ACE 2-F Study Overview1
ALPK2 2-F Study Overview5
ATP2C2 2-F Study Overview1
BRAF 2-F Study Overview1 tiacciBRAFMutationsHairycell2011a?
BRD4 2-F Study Overview1
BTG2 2-F Study Overview1 6
C6orf27 2-F Study Overview1
CAD 2-F Study Overview1
CCT6B 2-F Study Overview1
CD79B 2-F Study Overview5 6
CDH17 2-F Study Overview1
COL4A2 2-F Study Overview1
CTCF 2-F Study Overview5
CYB5D1 2-F Study Overview1
CYP4F22 2-F Study Overview1
DLGAP1 2-F Study Overview1
DNMT1 2-F Study Overview5
DTX1 2-F Study Overview1 27,rossiCodingGenomeSplenic2012c?,schmitzGeneticsPathogenesisDiffuse2018a?
EIF2C4 2-F Study Overview1
EML2 2-F Study Overview1
ENTPD3 2-F Study Overview1
EPHB2 2-F Study Overview1
ETS1 2-F Study Overview5 6
FAM129B 2-F Study Overview1
FGFR3 2-F Study Overview1
FTCD 2-F Study Overview1
FZD3 2-F Study Overview5
GRIK5 2-F Study Overview1
HIST1H1C 2-F Study Overview5 6
HIST1H2AG 2-F Study Overview5 12,rossiCodingGenomeSplenic2012c?,krysiakRecurrentSomaticMutations2017b?
HIST1H2AM 2-F Study Overview5 krysiakRecurrentSomaticMutations2017b?
HIST1H2BK 2-F Study Overview5 rossiCodingGenomeSplenic2012c?
HIST1H3H 2-F Study Overview5
HIST1H3J 2-F Study Overview5
ICK 2-F Study Overview1
ITPR3 2-F Study Overview1 tiacciPervasiveMutationsJAKSTAT2018b?
KCNK10 2-F Study Overview5
KIFC3 2-F Study Overview1
MAP3K6 2-F Study Overview1
MME 2-F Study Overview5
MTOR 2-F Study Overview5 2
MYH10 2-F Study Overview1
NOTCH1 2-F Study Overview1 13,22,rossiCodingGenomeSplenic2012c?
NRXN2 2-F Study Overview1
PABPC4L 2-F Study Overview5
PC 2-F Study Overview1
PCDHA11 2-F Study Overview5
PDZRN3 2-F Study Overview5
PIK3R1 2-F Study Overview5 2
POLRMT 2-F Study Overview1
POR 2-F Study Overview1
PRSS22 2-F Study Overview1
PTPRN 2-F Study Overview1
PXDNL 2-F Study Overview5
RBP3 2-F Study Overview1
RET 2-F Study Overview1
SALL3 2-F Study Overview1 25
SAPS2 2-F Study Overview1
SBF1 2-F Study Overview1
SF3B1 2-F Study Overview1
SHANK1 2-F Study Overview1
SLC29A2 2-F Study Overview1
SNTB2 2-F Study Overview5
SYNGAP1 2-F Study Overview1
TBC1D9B 2-F Study Overview1
TIGD6 2-F Study Overview1
TPST2 2-F Study Overview1
WDR7 2-F Study Overview5
ZNF229 2-F Study Overview1

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Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996.
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27.
Gomez F, Fisk B, McMichael JF, Mosior M, Foltz JA, Skidmore ZL, Duncavage EJ, Miller CA, Abel H, Li YS, Russler-Germain DA, Krysiak K, Watkins MP, Ramirez CA, Schmidt A, Martins Rodrigues F, Trani L, Khanna A, Wagner JA, Fulton RS, Fronick CC, O’Laughlin MD, Schappe T, Cashen AF, Mehta-Shah N, Kahl BS, Walker J, Bartlett NL, Griffith M, Fehniger TA, Griffith OL. Ultra-Deep Sequencing Reveals the Mutational Landscape of Classical Hodgkin Lymphoma. Cancer Res Commun. 2023 Nov 15;3(11):2312–2330. PMCID: PMC10648575