BL genes

Origins of BL genessankey

Tier 1 BL genes

Gene Tier Relevant references
ARID1A 1 Love et al. 2012; Krysiak et al. 2017; Zhang et al. 2013
BMP7 1 Panea et al. 2019
CCND3 1 Morin et al. 2011; Richter et al. 2012
CHD8 1 Grande et al. 2019; Reddy et al. 2017
DDX3X 1 Schmitz et al. 2012, 2018
EIF4A1 1 Panea et al. 2019
EPPK1 1 Panea et al. 2019
FBXO11 1 Hübschmann et al. 2021; Richter et al. 2012
FOXO1 1 Schmitz et al. 2012; Morin et al. 2011
GNA13 1 Love et al. 2012; Morin et al. 2011
GNAI2 1 Grande et al. 2019; Morin et al. 2013
HNRNPU 1a Reddy et al. 2017; Panea et al. 2019
ID3 1 Schmitz et al. 2012; Richter et al. 2012
KMT2D 1 Morin et al. 2011; Grande et al. 2019
MYC 1a Johnston and Carroll 1992; L. Pasqualucci et al. 2001
P2RY8 1 Muppidi et al. 2014; Lohr et al. 2012
PHF6 1 Reddy et al. 2017; Thomas et al. 2023
PTEN 1 Love et al. 2012
RFX7 1 Grande et al. 2019
RHOA 1 Richter et al. 2012
SIN3A 1 Grande et al. 2019
SMARCA4 1 Krysiak et al. 2017; Richter et al. 2012; Zhang et al. 2013
TCF3 1 Schmitz et al. 2012
TCL1A 1 Grande et al. 2019
TFAP4 1 Grande et al. 2019
TP53 1 Morin et al. 2011; Wilda et al. 2004
USP7 1 Grande et al. 2019
WNK1 1 Hübschmann et al. 2021; Thomas et al. 2023

Tier 2 BL genes

Gene Tier Relevant references
ACAD9 2 Love et al. 2012
ACE 2 Love et al. 2012
ADAMTS5 2 Burkhardt et al. 2022
ADNP 2 Burkhardt et al. 2022
AGO4 2 Burkhardt et al. 2022
ALPK2 2 Panea et al. 2019
ARHGEF1 2 Muppidi et al. 2014
ATP2C2 2 Love et al. 2012
BACH2 2a Grande et al. 2019
BCL2 2a Burkhardt et al. 2022; Morin et al. 2011; Tanaka et al. 1992
BCL6 2a Love et al. 2012; Morin et al. 2011
BCL7A 2a Grande et al. 2019; Krysiak et al. 2017; Arthur et al. 2018
BRAF 2 Love et al. 2012; Tiacci et al. 2011
BRD4 2 Love et al. 2012
BTG1 2a Morin et al. 2011; Burkhardt et al. 2022
BTG2 2a Love et al. 2012; Morin et al. 2011
C16orf48 2 Schmitz et al. 2012
C6orf27 2 Love et al. 2012
CAD 2 Love et al. 2012
CARD11 2 Lenz et al. 2008; Morin et al. 2011; Panea et al. 2019
CARD4 2 Love et al. 2012
CCNF 2 Abate et al. 2015
CCT6B 2 Love et al. 2012
CD79A 2 Burkhardt et al. 2022
CD79B 2 Morin et al. 2011; Panea et al. 2019
CD83 2a Morin et al. 2013; Panea et al. 2019; Russler-Germain et al. 2023
CDC73 2 Reddy et al. 2017; Love et al. 2012
CDH17 2 Love et al. 2012
CDKN2A 2 Morin et al. 2013; Grande et al. 2019
CDKN2C 2 Thomas et al. 2023
CHD4 2 Burkhardt et al. 2022
COL4A2 2 Love et al. 2012
CPXM2 2 Burkhardt et al. 2022
CREBBP 2 Love et al. 2012; Laura Pasqualucci, Dominguez-Sola, et al. 2011
CTCF 2 Panea et al. 2019
CXCR4 2a Krysiak et al. 2017; Khodabakhshi et al. 2012; Panea et al. 2019
CYB5D1 2 Love et al. 2012
CYP4F22 2 Love et al. 2012
DHCR7 2 Schmitz et al. 2012
DLGAP1 2 Love et al. 2012
DNMT1 2 Panea et al. 2019
DTX1 2a Panea et al. 2019; Schmitz et al. 2018
E2F2 2 Burkhardt et al. 2022
EBF1 2a Bohle et al. 2013; Thomas et al. 2023
EDNRB 2 Burkhardt et al. 2022
EHD1 2 Thomas et al. 2023
EIF2C4 2 Love et al. 2012
ELP2 2 Schmitz et al. 2012
EML2 2 Love et al. 2012
ENTPD3 2 Love et al. 2012
EP300 2 Laura Pasqualucci, Dominguez-Sola, et al. 2011; Panea et al. 2019
EPHB2 2 Love et al. 2012
ERAP1 2 Burkhardt et al. 2022
ETS1 2a Panea et al. 2019; Morin et al. 2011
EXOSC6 2 Schmitz et al. 2012
EZH2 2 Morin et al. 2010; Love et al. 2012
FAM129B 2 Love et al. 2012
FGFR3 2 Love et al. 2012
FLYWCH1 2 Schmitz et al. 2012
FTCD 2 Love et al. 2012
FZD3 2 Panea et al. 2019
GGTLA4 2 Love et al. 2012
GRB2 2 Laura Pasqualucci, Trifonov, et al. 2011; Panea et al. 2019
GRIK5 2 Love et al. 2012
GTSE1 2 Schmitz et al. 2012
HIST1H1C 2a Panea et al. 2019; Morin et al. 2011
HIST1H1E 2a Morin et al. 2013; Grande et al. 2019; Krysiak et al. 2017
HIST1H2AG 2a Morin et al. 2013; Krysiak et al. 2017; Panea et al. 2019
HIST1H2AM 2a Panea et al. 2019; Krysiak et al. 2017
HIST1H2BK 2a Panea et al. 2019
HIST1H3D 2a Panea et al. 2019
HIST1H3H 2a Panea et al. 2019
HIST1H3I 2a Panea et al. 2019; Krysiak et al. 2017
HIST1H3J 2a Panea et al. 2019
HIST1H4J 2a Panea et al. 2019
HLA-A 2
HLA-B 2
HLA-DMB 2
HLA-DQB1 2 Burkhardt et al. 2022
ICK 2 Love et al. 2012
IGLL5 2a Russler-Germain et al. 2023; Panea et al. 2019
IKZF3 2a Panea et al. 2019; Morin et al. 2013
IRF8 2a Panea et al. 2019; Morin et al. 2011
ITPR3 2 Love et al. 2012
KANK2 2 Schmitz et al. 2012
KCNK10 2 Panea et al. 2019
KIFC3 2 Love et al. 2012
KLHL26 2 Burkhardt et al. 2022
KLHL6 2a Morin et al. 2011; Panea et al. 2019
KMT2C 2 Zhou et al. 2019; Zhang et al. 2013
LTB 2a Panea et al. 2019; Chapuy et al. 2018
MAP3K6 2 Love et al. 2012
MCL1 2 Panea et al. 2019; Reddy et al. 2017
MIR142 2a Grande et al. 2019; Kwanhian et al. 2012
MKI67 2 Russler-Germain et al. 2023; Schmitz et al. 2012
MME 2 Panea et al. 2019
MTOR 2 Zhang et al. 2013; Panea et al. 2019
MYH10 2 Love et al. 2012
MYO18A 2 Schmitz et al. 2012
NBEAL1 2 Love et al. 2012
NCOR2 2 Schmitz et al. 2012
NOA1 2 Burkhardt et al. 2022
NOTCH1 2 Laura Pasqualucci, Trifonov, et al. 2011; Love et al. 2012
NOTCH2 2 Trøen et al. 2008; Panea et al. 2019
NRXN2 2 Love et al. 2012
P2RY2 2 Love et al. 2012
PABPC4L 2 Panea et al. 2019
PC 2 Love et al. 2012
PCBP1 2 Schmitz et al. 2012
PCDHA11 2 Panea et al. 2019
PDCD11 2 Schmitz et al. 2012
PDZRN3 2 Panea et al. 2019
PIK3R1 2 Zhang et al. 2013; Panea et al. 2019
PIM1 2a L. Pasqualucci et al. 2001; Burkhardt et al. 2022
PLCG2 2 Panea et al. 2019
POLRMT 2 Love et al. 2012
POR 2 Love et al. 2012
PPP6R2 2 Burkhardt et al. 2022
PREX1 2 Burkhardt et al. 2022
PRSS22 2 Love et al. 2012
PTPRN 2 Love et al. 2012
PXDNL 2 Panea et al. 2019
RAC2 2 Hübschmann et al. 2021; Panea et al. 2019
RANBP6 2 Love et al. 2012
RBP3 2 Love et al. 2012
RET 2 Love et al. 2012
REV3L 2 Burkhardt et al. 2022
RNF144B 2 Panea et al. 2019
RPL10 2 Burkhardt et al. 2022
S1PR2 2a Morin et al. 2011; Muppidi et al. 2014
SAL3 2 Burkhardt et al. 2022
SALL3 2 Love et al. 2012
SAPS2 2 Love et al. 2012
SBF1 2 Love et al. 2012
SF3B1 2 Love et al. 2012
SHANK1 2 Love et al. 2012
SLC29A2 2 Love et al. 2012
SNTB2 2 Panea et al. 2019
SP3 2 Panea et al. 2019
SYNCRIP 2 Panea et al. 2019
SYNGAP1 2 Love et al. 2012
TBC1D9B 2 Love et al. 2012
TET2 2 Albuquerque et al. 2017; Panea et al. 2019
TIGD6 2 Love et al. 2012
TOP2A 2 Schmitz et al. 2012
TPST2 2 Love et al. 2012
TTN 2 Burkhardt et al. 2022
VWA7 2 Burkhardt et al. 2022
WDR7 2 Panea et al. 2019
WDR90 2 Schmitz et al. 2012
WHAMM 2 Schmitz et al. 2012
WNK2 2 Panea et al. 2019
YY1AP1 2 Schmitz et al. 2012
ZAN 2 Burkhardt et al. 2022
ZBTB7A 2 Burkhardt et al. 2022; Reddy et al. 2017
ZFP36L1 2a Morin et al. 2011; Panea et al. 2019
ZNF229 2 Love et al. 2012
ZNF85 2 Burkhardt et al. 2022

References

Abate, F., M. Ambrosio, L. Mundo, M. Laginestra, F. Fuligni, M. Rossi, Sakellarios Zairis, et al. 2015. “Distinct Viral and Mutational Spectrum of Endemic Burkitt Lymphoma.” PLoS Pathogens 11. https://doi.org/10.1371/journal.ppat.1005158.
Albuquerque, Marco A., Bruno M. Grande, Elie J. Ritch, Prasath Pararajalingam, Selin Jessa, Martin Krzywinski, Jasleen K. Grewal, Sohrab P. Shah, Paul C. Boutros, and Ryan D. Morin. 2017. “Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy.” GigaScience 6 5: 1–13. https://doi.org/10.1093/gigascience/gix015.
Arthur, Sarah E., Aixiang Jiang, Bruno M. Grande, Miguel Alcaide, Razvan Cojocaru, Christopher K. Rushton, Anja Mottok, et al. 2018. “Genome-Wide Discovery of Somatic Regulatory Variants in Diffuse Large B-cell Lymphoma.” Nature Communications 9 1: 4001. https://doi.org/10.1038/s41467-018-06354-3.
Bohle, V., C. Döring, M.-L. Hansmann, and R. Küppers. 2013. “Role of Early B-cell Factor 1 EBF1 in Hodgkin Lymphoma.” Leukemia 27 3: 671–79. https://doi.org/10.1038/leu.2012.280.
Burkhardt, Birgit, Ulf Michgehl, Jonas Rohde, Tabea Erdmann, Philipp Berning, Katrin Reutter, Marius Rohde, et al. 2022. “Clinical Relevance of Molecular Characteristics in Burkitt Lymphoma Differs According to Age.” Nature Communications 13 1: 3881. https://doi.org/10.1038/s41467-022-31355-8.
Chapuy, Bjoern, Chip Stewart, Andrew J. Dunford, Jaegil Kim, Atanas Kamburov, Robert A. Redd, Mike S. Lawrence, et al. 2018. “Molecular Subtypes of Diffuse Large B Cell Lymphoma Are Associated with Distinct Pathogenic Mechanisms and Outcomes.” Nature Medicine 24 5: 679–90. https://doi.org/10.1038/s41591-018-0016-8.
Grande, Bruno M., Daniela S. Gerhard, Aixiang Jiang, Nicholas B. Griner, Jeremy S. Abramson, Thomas B. Alexander, Hilary Allen, et al. 2019. “Genome-Wide Discovery of Somatic Coding and Noncoding Mutations in Pediatric Endemic and Sporadic Burkitt Lymphoma.” Blood 133 12: 1313–24. https://doi.org/10.1182/blood-2018-09-871418.
Hübschmann, Daniel, Kortine Kleinheinz, Rabea Wagener, Stephan H. Bernhart, Cristina López, Umut H. Toprak, Stephanie Sungalee, et al. 2021. “Mutational Mechanisms Shaping the Coding and Noncoding Genome of Germinal Center Derived B-cell Lymphomas.” Leukemia 35 7: 2002–16. https://doi.org/10.1038/s41375-021-01251-z.
Johnston, J. M., and W. L. Carroll. 1992. “C-Myc Hypermutation in Burkitt’s Lymphoma.” Leukemia & Lymphoma 8 6: 431–39. https://doi.org/10.3109/10428199209051025.
Khodabakhshi, Alireza Hadj, Ryan D. Morin, Anthony P. Fejes, Andrew J. Mungall, Karen L. Mungall, Madison Bolger-Munro, Nathalie A. Johnson, et al. 2012. “Recurrent Targets of Aberrant Somatic Hypermutation in Lymphoma.” Oncotarget 3 11: 1308–19. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717795/.
Krysiak, Kilannin, Felicia Gomez, Brian S. White, Matthew Matlock, Christopher A. Miller, Lee Trani, Catrina C. Fronick, et al. 2017. “Recurrent Somatic Mutations Affecting B-cell Receptor Signaling Pathway Genes in Follicular Lymphoma.” Blood 129 4: 473–83. https://doi.org/10.1182/blood-2016-07-729954.
Kwanhian, Wiyada, Dido Lenze, Julia Alles, Natalie Motsch, Stephanie Barth, Celina Döll, Jochen Imig, et al. 2012. “MicroRNA-142 Is Mutated in about 20% of Diffuse Large B-cell Lymphoma.” Cancer Medicine 1 2: 141–55. https://doi.org/10.1002/cam4.29.
Lenz, Georg, R Eric Davis, Vu N Ngo, Lloyd Lam, Thaddeus C George, George W Wright, Sandeep S Dave, et al. 2008. “Oncogenic CARD11 Mutations in Human Diffuse Large B Cell Lymphoma.” Science 319 5870: 1676–79.
Lohr, Jens G., Petar Stojanov, Michael S. Lawrence, Daniel Auclair, Bjoern Chapuy, Carrie Sougnez, Peter Cruz-Gordillo, et al. 2012. “Discovery and Prioritization of Somatic Mutations in Diffuse Large B-cell Lymphoma DLBCL by Whole-Exome Sequencing.” Proceedings of the National Academy of Sciences of the United States of America 109 10: 3879–84. https://doi.org/10.1073/pnas.1121343109.
Love, Cassandra, Zhen Sun, Dereje Jima, Guojie Li, Jenny Zhang, Rodney Miles, Kristy L. Richards, et al. 2012. “The Genetic Landscape of Mutations in Burkitt Lymphoma.” Nature Genetics 44 12: 1321–25. https://doi.org/10.1038/ng.2468.
Morin, Ryan D., Nathalie A. Johnson, Tesa M. Severson, Andrew J. Mungall, Jianghong An, Rodrigo Goya, Jessica E. Paul, et al. 2010. “Somatic Mutations Altering EZH2 Tyr641 in Follicular and Diffuse Large B-cell Lymphomas of Germinal-Center Origin.” Nature Genetics 42 2: 181–85. https://doi.org/10.1038/ng.518.
Morin, Ryan D., Maria Mendez-Lago, Andrew J. Mungall, Rodrigo Goya, Karen L. Mungall, Richard D. Corbett, Nathalie A. Johnson, et al. 2011. “Frequent Mutation of Histone-Modifying Genes in Non-Hodgkin Lymphoma.” Nature 476 7360: 298–303. https://doi.org/10.1038/nature10351.
Morin, Ryan D., Karen Mungall, Erin Pleasance, Andrew J. Mungall, Rodrigo Goya, Ryan D. Huff, David W. Scott, et al. 2013. “Mutational and Structural Analysis of Diffuse Large B-cell Lymphoma Using Whole-Genome Sequencing.” Blood 122 7: 1256–65. https://doi.org/10.1182/blood-2013-02-483727.
Muppidi, J., R. Schmitz, Jesse A. Green, Jesse A. Green, Wenming Xiao, Adrien B. Larsen, S. Braun, et al. 2014. “Loss of Signaling via Gα13 in Germinal Center B Cell-Derived Lymphoma.” Nature 516: 254–58. https://doi.org/10.1038/nature13765.
Panea, R., C. Love, Jennifer R. Shingleton, Anupama Reddy, J. Bailey, A. Moormann, J. Otieno, et al. 2019. “The Whole Genome Landscape of Burkitt Lymphoma Subtypes.” Blood. https://doi.org/10.1182/blood.2019001880.
Pasqualucci, Laura, David Dominguez-Sola, Annalisa Chiarenza, Giulia Fabbri, Adina Grunn, Vladimir Trifonov, Lawryn H. Kasper, et al. 2011. “Inactivating Mutations of Acetyltransferase Genes in B-cell Lymphoma.” Nature 471 7337: 189–95. https://doi.org/10.1038/nature09730.
Pasqualucci, Laura, Vladimir Trifonov, Giulia Fabbri, Jing Ma, Davide Rossi, Annalisa Chiarenza, Victoria A. Wells, et al. 2011. “Analysis of the Coding Genome of Diffuse Large B-cell Lymphoma.” Nature Genetics 43 9: 830–37. https://doi.org/10.1038/ng.892.
Pasqualucci, L., P. Neumeister, T. Goossens, G. Nanjangud, R. S. Chaganti, R. Küppers, and R. Dalla-Favera. 2001. “Hypermutation of Multiple Proto-Oncogenes in B-cell Diffuse Large-Cell Lymphomas.” Nature 412 6844: 341–46. https://doi.org/10.1038/35085588.
Reddy, Anupama, Jenny Zhang, Nicholas S Davis, Andrea B Moffitt, Cassandra L Love, Alexander Waldrop, Sirpa Leppa, et al. 2017. “Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma.” Cell 171 2: 481–494.e15.
Richter, Julia, Matthias Schlesner, Steve Hoffmann, Markus Kreuz, Ellen Leich, Birgit Burkhardt, Maciej Rosolowski, et al. 2012. “Recurrent Mutation of the ID3 Gene in Burkitt Lymphoma Identified by Integrated Genome, Exome and Transcriptome Sequencing.” Nature Genetics 44 12: 1316–20. https://doi.org/10.1038/ng.2469.
Russler-Germain, David A., Kilannin Krysiak, Cody A. Ramirez, Matthew Mosior, Marcus P. Watkins, Felicia Gomez, Zachary L. Skidmore, et al. 2023. “Mutations Associated with Progression in Follicular Lymphoma Predict Inferior Outcomes at Diagnosis: Alliance A151303.” Blood Advances 7: 5524–39. https://doi.org/10.1182/bloodadvances.2023010779.
Schmitz, Roland, George W. Wright, Da Wei Huang, Calvin A. Johnson, James D. Phelan, James Q. Wang, Sandrine Roulland, et al. 2018. “Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma.” The New England Journal of Medicine 378 15: 1396–1407. https://doi.org/10.1056/NEJMoa1801445.
Schmitz, Roland, Ryan M. Young, Michele Ceribelli, Sameer Jhavar, Wenming Xiao, Meili Zhang, George Wright, et al. 2012. “Burkitt Lymphoma Pathogenesis and Therapeutic Targets from Structural and Functional Genomics.” Nature 490 7418: 116–20. https://doi.org/10.1038/nature11378.
Tanaka, S., D. C. Louie, J. A. Kant, and J. C. Reed. 1992. “Frequent Incidence of Somatic Mutations in Translocated BCL2 Oncogenes of Non-Hodgkin’s Lymphomas.” Blood 79 1: 229–37.
Thomas, Nicole, Kostiantyn Dreval, Daniela S. Gerhard, Laura K. Hilton, Jeremy S. Abramson, Richard F. Ambinder, Stefan Barta, et al. 2023. “Genetic Subgroups Inform on Pathobiology in Adult and Pediatric Burkitt Lymphoma.” Blood 141 8: 904–16. https://doi.org/10.1182/blood.2022016534.
Tiacci, Enrico, Vladimir Trifonov, Gianluca Schiavoni, Antony Holmes, Wolfgang Kern, Maria Paola Martelli, Alessandra Pucciarini, et al. 2011. “BRAF Mutations in Hairy-Cell Leukemia.” The New England Journal of Medicine 364 24: 2305–15. https://doi.org/10.1056/NEJMoa1014209.
Trøen, Gunhild, Iwona Wlodarska, Abdirashid Warsame, Silvia Hernández Llodrà, Christiane De Wolf-Peeters, and Jan Delabie. 2008. “NOTCH2 Mutations in Marginal Zone Lymphoma.” Haematologica 93 7: 1107–9. https://doi.org/10.3324/haematol.11635.
Wilda, M., J. Bruch, L. Harder, D. Rawer, A. Reiter, A. Borkhardt, and W. Woessmann. 2004. “Inactivation of the ARF-MDM-2-p53 Pathway in Sporadic Burkitt’s Lymphoma in Children.” Leukemia 18 3: 584–88. https://doi.org/10.1038/sj.leu.2403254.
Zhang, Jenny, Vladimir Grubor, Cassandra L Love, Anjishnu Banerjee, Kristy L Richards, Piotr A Mieczkowski, Cherie Dunphy, et al. 2013. “Genetic Heterogeneity of Diffuse Large B-cell Lymphoma.” January.
Zhou, Peixun, Alex E. Blain, Alexander M. Newman, Masood Zaka, George Chagaluka, Filbert R. Adlar, Ugonna T. Offor, et al. 2019. “Sporadic and Endemic Burkitt Lymphoma Have Frequent FOXO1 Mutations but Distinct Hotspots in the AKT Recognition Motif.” Blood Advances 3 14: 2118–27. https://doi.org/10.1182/bloodadvances.2018029546.

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

Disclaimer

The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

You are free to:

Share — copy and redistribute the material in any medium or format for any purpose, even commercially.

Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.