fix format

# ARID5B

## History

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.¹ Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

2017-10-10 : Reddy : DLBCL

2023-11-15 : Gomez : PMBL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ARID5B_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ARID5B_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ARID5B.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ARID5B_hg38.html)

## ARID5B Expression

## References

1. *Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.*

title Publication timing

2014-05-08 : Zhang : MCL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No |0.000 |0 |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ATP11C_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ATP11C_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ATP11C.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ATP11C_hg38.html)

## ATP11C Expression

<!-- ORIGIN: zhangGenomicLandscapeMantle2014 -->

<!-- MCL: zhangGenomicLandscapeMantle2014 -->

## References

1. 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.

# ATP2C2

## History

```mermaid

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%

title Publication timing

2012-12-01 : Love : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No |3.759 |0 |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ATP2C2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ATP2C2_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ATP2C2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ATP2C2_hg38.html)

## ATP2C2 Expression

<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->

<!-- BL: loveGeneticLandscapeMutations2012 -->

## References

1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561

# ATP6AP1

## History

```mermaid

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%

title Publication timing

2016-02-02 : Okosun : FL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ATP6AP1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ATP6AP1_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ATP6AP1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ATP6AP1_hg38.html)

## ATP6AP1 Expression

<!-- ORIGIN: okosunRecurrentMTORC1activatingRRAGC2016a -->

<!-- FL: okosunRecurrentMTORC1activatingRRAGC2016a -->

## References

1. Okosun J, Wolfson RL, Wang J, Araf S, Wilkins L, Castellano BM, Escudero-Ibarz L, Al Seraihi AF, Richter J, Bernhart SH, Efeyan A, Iqbal S, Matthews J, Clear A, Guerra-Assunção JA, Bödör C, Quentmeier H, Mansbridge C, Johnson P, Davies A, Strefford JC, Packham G, Barrans S, Jack A, Du MQ, Calaminici M, Lister TA, Auer R, Montoto S, Gribben JG, Siebert R, Chelala C, Zoncu R, Sabatini DM, Fitzgibbon J. Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. Nat Genet. 2016 Feb;48(2):183–188. PMCID: PMC4731318

# ATP6V1B2

## History

```mermaid

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%

title Publication timing

2016-02-02 : Okosun : FL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ATP6V1B2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ATP6V1B2_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ATP6V1B2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ATP6V1B2_hg38.html)

## ATP6V1B2 Expression

<!-- ORIGIN: okosunRecurrentMTORC1activatingRRAGC2016a -->

<!-- FL: okosunRecurrentMTORC1activatingRRAGC2016a -->

## References

1. Okosun J, Wolfson RL, Wang J, Araf S, Wilkins L, Castellano BM, Escudero-Ibarz L, Al Seraihi AF, Richter J, Bernhart SH, Efeyan A, Iqbal S, Matthews J, Clear A, Guerra-Assunção JA, Bödör C, Quentmeier H, Mansbridge C, Johnson P, Davies A, Strefford JC, Packham G, Barrans S, Jack A, Du MQ, Calaminici M, Lister TA, Auer R, Montoto S, Gribben JG, Siebert R, Chelala C, Zoncu R, Sabatini DM, Fitzgibbon J. Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. Nat Genet. 2016 Feb;48(2):183–188. PMCID: PMC4731318

# BACH2

## History

Mutations in this gene were first described in BL in 2019 by Grande et al.¹

title Publication timing

2019-03-21 : Grande : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BACH2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BACH2_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BACH2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BACH2_hg38.html)

## BACH2 Expression

## References

1. Grande BM, Gerhard DS, Jiang A, Griner NB, Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K, Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA, Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL, He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE, Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG, Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J, Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH, Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood. 2019 Mar 21;133(12):1313–1324.

# BCL10

## Overview

BCL10 (B-cell lymphoma/leukemia 10) is a gene involved in apoptosis signaling and immune response regulation. Mutations in BCL10 have been implicated in the pathogenesis of various lymphomas, particularly mucosa-associated lymphoid tissue (MALT) lymphomas. They have also been reproducibly observed in a smaller proportion of DLBCLs with the frequency in non-MALT lymphomas under some debate.<sup>1</sup>

## History

2016-09-08 : Spina : MZL

2023-07-26 : Russler : FL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL10_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL10_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL10.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL10_hg38.html)

## BCL10 Expression

## References

# BCL11A

## Overview

BCL11A (B-cell lymphoma/leukemia 11A) is a transcription factor involved in the regulation of gene expression, particularly in lymphoid cells. Mutations in BCL11A have been linked to various lymphoid malignancies, including B-cell lymphomas. Amplification of the 2p13 region, where BCL11A is located, has been observed in various B-cell non-Hodgkin lymphomas (B-NHL) and Hodgkin disease (HD). Although this suggests that BCL11A amplification contributes to the malignancy through increased expression, the gene is commonly co-amplified with the REL gene.¹ The functional role of somatic mutations of BCL11A in B-cell lymphomas remains unclear. This is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL11A_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL11A_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL11A.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL11A_hg38.html)

## References

1. *Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL, Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG, Siebert R, Tucker PW, Dyer MJ. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. Blood. 2001 Dec 1;98(12):3413-20. doi: 10.1182/blood.v98.12.3413. PMID: 11719382.*

## BCL11A Expression

<!-- ORIGIN: Unknown -->

# BCL2

## Overview

BCL2 mutations are frequently found in DLBCL, particularly in the germinal center B-cell (GCB) subtype, and are often located in the flexible loop domain and outside the BCL2-homology domains. These mutations are caused by the somatic hypermutation process.¹ The presence of these mutations are strongly correlated with the presence of a translocation between BCL2 and one of the immunoglobulin loci. ² Although missense mutations may not be under positive selective pressure in the context of lymphomagenesis, some of these mutations may interfere with the function of BCL2 antagonists.³

2021-04-01 : Sarkozy : PMBL

2022-07-06 : Burkhardt : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

|chr18 |60982728 |60988342|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr18%3A60982728%2D60988342) |active_promoter |

## BCL2 Hotspots

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL2_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL2_hg38.html)

## BCL2 Expression

<!-- ORIGIN: 1339299 -->

<!-- FL: morinFrequentMutationHistonemodifying2011 -->

<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->

<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->

<!-- DLBCL: tanakaFrequentIncidenceSomatic1992 -->

## References

1. Tanaka S, Louie DC, Kant JA, Reed JC. Frequent incidence of somatic mutations in translocated BCL2 oncogenes of non-Hodgkin’s lymphomas. Blood. 1992 Jan 1;79(1):229–237. PMID: 1339299

2. Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298–303. PMCID: PMC3210554

# BCL6

## Overview

BCL6 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Although common, particularly in DLBCL, the function of many of these mutations remains unclear but some have been shown to affect the regulation of BCL6 expression.<sup>1,2</sup> The role of BCL6 missense mutations, seen over 9% of patients,<sup>3</sup> remains unclear.

2011-07-27 : Morin : DLBCL

2012-12-01 : Love : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

|chr3 |187675741 |187690717|[Intergenic-4](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A187675741%2D187690717)|NA |

|chr3 |187690717 |187705000|[Intergenic-5](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A187690717%2D187705000)|NA |

## BCL6 Hotspots

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL6_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL6_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL6.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL6_hg38.html)

## BCL6 Expression

<!-- ORIGIN: 21796119 -->

<!-- BL: loveGeneticLandscapeMutations2012 -->

<!-- DLBCL: morinFrequentMutationHistonemodifying2011 -->

## References

1. Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298–303. PMCID: PMC3210554

2. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561

# BCL7A

## Overview

BCL7A protein interacts with components of the SWI/SNF chromatin remodeling complex, implicating it in chromatin remodeling processes essential for normal cellular function.¹ Mutations in the BCL7A gene have been identified in diffuse large B-cell lymphoma (DLBCL) and other B-cell lymphomas, implicating this gene in the pathogenesis of these cancers. Importantly, BCL7A is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Due to the presence of some loss-of-function mutations, BCL7A has been described as a tumour-suppressor gene in DLBCL.² The rate of DLBCLs with biallelic loss of this locus remains unclear.

2018-10-01 : Arthur : DLBCL

2019-03-21 : Grande : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL7A_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL7A_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCL7A.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCL7A_hg38.html)

## BCL7A Expression

<!-- ORIGIN: reichelFlowSortingExome2015a -->

<!-- FL: krysiakRecurrentSomaticMutations2017b -->

<!-- BL: grandeGenomewideDiscoverySomatic2019 -->

<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->

## References

1. *Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072. PMID: 25488972*

2. *Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390*

2017-07-27 : Jallades : MZL

2020-09-17 : Nadeu : MCL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No |1.743 |0 |

## BCOR Hotspots

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCOR_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCOR_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCOR.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCOR_hg38.html)

## References

1. *Kang JH, Lee SH, Lee J, Choi M, Cho J, Kim SJ, Kim WS, Ko YH, Yoo HY. The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma. BMC Cancer. 2021 Jan 19;21(1):82. doi: 10.1186/s12885-021-07806-8. PMID: 33468080; PMCID: PMC7816311.*

2. *Nadeu F, Martin-Garcia D, Clot G, Díaz-Navarro A, Duran-Ferrer M, Navarro A, Vilarrasa-Blasi R, Kulis M, Royo R, Gutiérrez-Abril J, Valdés-Mas R, López C, Chapaprieta V, Puiggros M, Castellano G, Costa D, Aymerich M, Jares P, Espinet B, Muntañola A, Ribera-Cortada I, Siebert R, Colomer D, Torrents D, Gine E, López-Guillermo A, Küppers R, Martin-Subero JI, Puente XS, Beà S, Campo E. Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes. Blood. 2020 Sep 17;136(12):1419-1432. doi: 10.1182/blood.2020005289. PMID: 32584970; PMCID: PMC7498364.*

## BCOR Expression

<!-- ORIGIN: jalladesExomeSequencingIdentifies2017 -->

<!-- MCL: nadeuGenomicEpigenomicInsights2020a -->

<!-- MZL: jalladesExomeSequencingIdentifies2017 -->

|:--------:|:----------:|:--------:|:------------------------------------------------------------------------------------------:|:------------------:|

|chr22 |23522060 |23528313|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr22%3A23522060%2D23528313)|NA |

## BCR Hotspots

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCR_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCR_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BCR.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BCR_hg38.html)

## BCR Expression

<!-- ORIGIN: Unknown -->

## References

# BIRC3

## History

```mermaid

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%

2018-10-01 : Arthur : DLBCL

2021-07-15 : Duns : PMBL

```

## Relevance tier by entity

|Entity|Tier|Description |

|:--------:|:----------:|:---------:|:--------------------------------------------------------------------------------------------:|:------------------:|

|chr11 |102188170 |102190077|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr11%3A102188170%2D102190077)|active_promoter |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BIRC3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BIRC3_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BIRC3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BIRC3_hg38.html)

## BIRC3 Expression

<!-- ORIGIN: rossiAlterationBIRC3Multiple2011a -->

<!-- PMBL: dunsCharacterizationDLBCLPMBL2021b -->

<!-- MZL: rossiAlterationBIRC3Multiple2011a -->

<!-- MCL: beaLandscapeSomaticMutations2013 -->

<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->

## References

1. Rossi D, Deaglio S, Dominguez-Sola D, Rasi S, Vaisitti T, Agostinelli C, Spina V, Bruscaggin A, Monti S, Cerri M, Cresta S, Fangazio M, Arcaini L, Lucioni M, Marasca R, Thieblemont C, Capello D, Facchetti F, Kwee I, Pileri SA, Foà R, Bertoni F, Dalla-Favera R, Pasqualucci L, Gaidano G. Alteration of BIRC3 and multiple other NF-κB pathway genes in splenic marginal zone lymphoma. Blood. 2011 Nov 3;118(18):4930–4934. PMID: 21881048

2. Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. PNAS. 2013 Nov 5;110(45):18250–18255. PMID: 24145436

2017-10-10 : Reddy : DLBCL

2021-04-01 : Sarkozy : PMBL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BIRC6_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BIRC6_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/BIRC6.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/BIRC6_hg38.html)

## References

1. *Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.*

## BIRC6 Expression

<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->

<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->

<!-- PMBL: sarkozyMutationalLandscapeGray2021a -->

# CASP8

## Overview

Caspase-8 mutations are relatively rare but have been documented in various non-Hodgkin lymphomas (NHLs). One study found no CASP8 mutations in gastrointestinal lymphomas, suggesting that these mutations may not be prevalent in all lymphoma types.<sup>1</sup> Due to the rarity of these mutations, their role remains poorly understood. Loss of caspase-8 may promote lymphomagenesis by impairing cytokinesis and increasing chromosomal aberrations.<sup>2</sup>

title Publication timing

2017-10-10 : Reddy : DLBCL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No | 8.788 |0 |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CASP8_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CASP8_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CASP8.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CASP8_hg38.html)

## CASP8 Expression

## References

# CBLB

## History

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.¹ Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

title Publication timing

2017-10-10 : Reddy : DLBCL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CBLB_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CBLB_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CBLB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CBLB_hg38.html)

## CBLB Expression

## References

1. *Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.*

title Publication timing

2021-05-05 : Hübschmann : FL

```

## Relevance tier by entity

|Entity|Tier|Description |

|

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_hg38.html)

## CCDC42BPB Expression

## References

1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491

# CCL4

## History

```mermaid

title Publication timing

2018-05-01 : Chapuy : DLBCL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No |0.000 |0 |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCL4_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCL4_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCL4.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCL4_hg38.html)

## CCL4 Expression

<!-- ORIGIN: chapuyMolecularSubtypesDiffuse2018b -->

<!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b -->

## References

1. Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387

# CCND1

## History

```mermaid

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%

title Publication timing

2013-11-05 : Bea : MCL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No |0.000 |0 |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCND1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCND1_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCND1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCND1_hg38.html)

## CCND1 Expression

<!-- ORIGIN: beaLandscapeSomaticMutations2013 -->

<!-- MCL: beaLandscapeSomaticMutations2013 -->

## References

1. Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. PNAS. 2013 Nov 5;110(45):18250–18255. PMID: 24145436

# CCND3

## Overview

CCND3 (Cyclin D3) is a gene that encodes a protein involved in the regulation of the cell cycle. Mutations in CCND3 are implicated in various types of B-cell lymphomas, including Burkitt lymphoma and diffuse large B-cell lymphoma (DLBCL).^1,2 Somatic mutations in CCND3 often stabilize the Cyclin D3 protein by altering the phosphorylation motif, which is crucial for proteasomal degradation. These mutations are associated with an increase in Cyclin D3 protein stability and oncogenic potential.

|FL |No |No |24.611 | 0.000 |

## CCND3 Hotspots

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCND3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCND3_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCND3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCND3_hg38.html)

## References

1. *Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351. PMID: 21796119; PMCID: PMC3210554.*

2. *Schmitz, R., et al. (2012). "Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics." Nature, 490(7418), 116-120.*

## CCND3 Expression

<!-- ORIGIN: morinFrequentMutationHistonemodifying2011 -->

<!-- FL: morinFrequentMutationHistonemodifying2011 -->

<!-- BL: richterRecurrentMutationID32012a -->

# CCNF

## History

```mermaid

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%

title Publication timing

2015-10-15 : Abate : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCNF_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCNF_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCNF.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCNF_hg38.html)

## CCNF Expression

<!-- ORIGIN: abateDistinctViralMutational2015a -->

<!-- BL: abateDistinctViralMutational2015a -->

## References

1. Abate F, Ambrosio M, Mundo L, Laginestra M, Fuligni F, Rossi M, Zairis S, Gazaneo S, Falco GD, Lazzi S, Bellan C, Rocca BJ, Amato T, Marasco E, Etebari M, Ogwang M, Calbi V, Ndede I, Patel K, Chumba D, Piccaluga P, Pileri S, Leoncini L, Rabadán R. Distinct Viral and Mutational Spectrum of Endemic Burkitt Lymphoma. PLoS Pathogens. 2015;11.

# CCT6B

## History

```mermaid

title Publication timing

2012-12-01 : Love : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No |0.000 |0 |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCT6B_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCT6B_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCT6B.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCT6B_hg38.html)

## CCT6B Expression

<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->

<!-- BL: loveGeneticLandscapeMutations2012 -->

## References

1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561

# CD22

## History

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.¹ Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

title Publication timing

2017-10-10 : Reddy : DLBCL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD22_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD22_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD22.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD22_hg38.html)

## CD22 Expression

## References

1. *Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.*

title Publication timing

2011-07-31 : Pasqualucci : DLBCL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No |1.559 |0.000 |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD36_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD36_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD36.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD36_hg38.html)

## References

1. *Carreras J, Ikoma H, Kikuti YY, Miyaoka M, Hiraiwa S, Tomita S, Kondo Y, Ito A, Nagase S, Miura H, Kawada H, Roncador G, Campo E, Hamoudi R, Nakamura N. Mutational, immune microenvironment, and clinicopathological profiles of diffuse large B-cell lymphoma and follicular lymphoma with BCL6 rearrangement. Virchows Arch. 2024 Apr;484(4):657-676. doi: 10.1007/s00428-024-03774-z. Epub 2024 Mar 11. PMID: 38462571.*

## CD36 Expression

<!-- ORIGIN: pasqualucciAnalysisCodingGenome2011 -->

<!-- DLBCL: pasqualucciAnalysisCodingGenome2011 -->

# CD44

## History

```mermaid

title Publication timing

2018-10-01 : Arthur : DLBCL

```

## Relevance tier by entity

|Entity|Tier|Description |

|:--------:|:----------:|:--------:|:------------------------------------------------------------------------------------------:|:------------------:|

|chr11 |35156769 |35164248|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr11%3A35156769%2D35164248)|active_promoter |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD44_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD44_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD44.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD44_hg38.html)

## CD44 Expression

<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->

<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->

## References

1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379

# CD58

## Overview

CD58, also known as lymphocyte function-associated antigen 3 (LFA-3), is crucial for immune recognition, facilitating interactions between tumor cells and cytotoxic T cells and natural killer (NK) cells. In DLBCL, mutations prevent the expression of CD58 on the cell surface, impairing the ability of T and NK cells to recognize and attack the tumor cells. This is often accompanied by mutations in the β2-Microglobulin gene, which further aids in immune evasion.¹

2011-07-27 : Morin : DLBCL

2015-10-01 : Schneider : PMBL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD58_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD58_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD58.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD58_hg38.html)

## CD58 Expression

## References

# CD70

## Overview

CD70 is a costimulatory molecule expressed on some activated lymphocytes and has a role in T-cell-mediated immune responses.<sup>1</sup> CD70 aberrations are relatively common in DLBCL and appear more frequent in certain DLBCL patient populations. For instance, in a Chinese DLBCL cohort, 24% of cases exhibited CD70 genetic changes, compared to 10.8% in a Swedish cohort.<sup>1</sup> CD70 mutations are associated with the BN2 genetic subtype of DLBCL.<sup>2</sup> The mutation pattern in CD70 is consistent with the preferential accumulation of *inactivating mutations*. Loss of CD70 protein expression has been described.<sup>1</sup> Genetic perturbation limits the development of an effective CD8+ T-cell immune response in Bcl6-driven DLBCL. In mouse models, CD70 loss promoted lymphomagenesis, consistent with its role as a tumor suppressor gene in B-cell lymphomas.<sup>1,3</sup>

## History

2011-07-27 : Morin : DLBCL

2023-07-26 : Russler : FL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD70_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD70_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD70.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD70_hg38.html)

# References

1. *Nie M, Ren W, Ye X, Berglund M, Wang X, Fjordén K, Du L, Giannoula Y, Lei D, Su W, Li W, Liu D, Linderoth J, Jiang C, Bao H, Jiang W, Huang H, Hou Y, Zhu S, Enblad G, Jerkeman M, Wu K, Zhang H, Amini RM, Li ZM, Pan-Hammarström Q. The dual role of CD70 in B-cell lymphomagenesis. Clin Transl Med. 2022 Dec;12(12):e1118. doi: 10.1002/ctm2.1118. PMID: 36471481; PMCID: PMC9722974.*

2. *Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020 Apr 13;37(4):551-568.e14. doi: 10.1016/j.ccell.2020.03.015. PMID: 32289277; PMCID: PMC8459709.*

3. *Mandato, E., Calabretta, E., Bai, G., Song, L., Sun, Y., Shanmugam, V., Paczkowska, J., Choi, I., Redd, R., Tang, M., Lawton, L., Neuberg, D., Rodig, S., Michor, F., Zhang, B., & Shipp, M. (2022). Abstract A38: Cd70 genetic perturbation limits the development of an effective CD8+ T-cell immune response to Bcl6-driven diffuse large B-cell lymphoma. Blood Cancer Discovery. https://doi.org/10.1158/2643-3249.lymphoma22-a38.*

## CD70 Expression

<!-- ORIGIN: morinFrequentMutationHistonemodifying2011 -->

<!-- DLBCL: morinFrequentMutationHistonemodifying2011 -->

<!-- FL: russler-germainMutationsAssociatedProgression2023b -->

title Publication timing

2018-10-01 : Arthur : DLBCL

```

## Relevance tier by entity

|Entity|Tier|Description |

|:--------:|:----------:|:---------:|:-------------------------------------------------------------------------------------------:|:------------------:|

|chr5 |149790977 |149792349|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr5%3A149790977%2D149792349)|active_promoter |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD74_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD74_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD74.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD74_hg38.html)

## CD74 Expression

<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->

<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->

## References

1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379

# CD79A

## History

```mermaid

2012-08-27 : Rossi : MZL

2022-07-06 : Burkhardt : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

|FL |No |No |3.676 |33.801 |

## CD79A Hotspots

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD79A_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD79A_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD79A.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD79A_hg38.html)

## CD79A Expression

<!-- ORIGIN: rossiCodingGenomeSplenic2012c -->

<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->

<!-- MZL: rossiCodingGenomeSplenic2012c -->

## References

1. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941

2. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584

# CD79B

## Overview

CD79B mutations significantly contribute to the pathogenesis of DLBCL by enhancing BCR signaling and promoting tumor survival. These mutations, especially when co-occurring with MYD88 mutations, define a unique molecular subtype.¹ This has clinical and therapeutic implications as it may contribute sensitivity to BTK inhibitors. In an inducible mouse model of MYD88-driven DLBCL, CD79B mutations did not accelerate lymphomagenesis but demonstrated an increased sensitivity to pharmacological BTK inhibition.² In a retrospective analysis, younger patients with MCD DLBCL that were treated with ibrutinib had significantly better outcomes.³ The most common hotspot mutation in CD79B is at the tyrosine residue 196 (Y196). This and other common mutations primarily occur in the immunoreceptor tyrosine-based activation motif (ITAM) domain and prevent the negative regulatory feedback provided by Lyn kinase thereby enhancing BCR signaling.

## History

2011-07-27 : Morin : DLBCL

2019-09-26 : Panea : BL

```

## Relevance tier by entity

|Entity|Tier|Description |

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD79B_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD79B_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD79B.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD79B_hg38.html)

## CD79B Expression

## References

1. *Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020 Apr 13;37(4):551-568.e14. doi: 10.1016/j.ccell.2020.03.015. PMID: 32289277; PMCID: PMC8459709.*

# CD83

## Overview

CD83 is a transmembrane protein that plays a role in the immune system, particularly in the maturation and function of dendritic cells, T cells, and B cells with a role in regulating immune responses and maintaining immune tolerance.<sup>1</sup> CD83 mutations in B-cell lymphomas have not been as extensively studied as mutations in some other genes. CD83 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. No notable hot spots have been described in this gene in the context of the cancers listed below.

2021-07-15 : Duns : PMBL

2023-07-26 : Russler : FL

```

## Relevance tier by entity

|Entity|Tier|Description |

|:--------:|:----------:|:--------:|:-----------------------------------------------------------------------------------------:|:-------------------------------:|

|chr6 |14118026 |14120025|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr6%3A14118026%2D14120025)|active_promoter-strong_enhancer|

View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD83_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD83_protein_hg38.html)

View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CD83.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CD83_hg38.html)

## CD83 Expression

## References

1. *Lechmann M, Zinser E, Golka A, Steinkasserer A. Role of CD83 in the immunomodulation of dendritic cells. Int Arch Allergy Immunol. 2002 Oct;129(2):113-8. doi: 10.1159/000065883. PMID: 12403928.*