Table of Contents

Overview

Mutations in CARD11 were initially described as enriched in the ABC subgroup of DLBCL.1 More recent data contradicts this association and has implicated CARD11 in FL and additional B-cell lymphomas including FL and MCL.2,3

Experimental Evidence

The functional effect of CARD11 mutations in DLBCL was explored in the original study.1

Relevance tier by entity

Entity Tier Description
BL 2 Role of CARD11 mutations in BL requires confirmation
DLBCL 1 High-confidence DLBCL gene
FL 1 High-confidence FL gene
MCL 1 High-confidence MCL gene
MZL 1 High-confidence MZL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

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MCL

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FL

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Mutation pattern and selective pressure estimates

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CARD11 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr7 2979522 T>C E242G
chr7 2979521 T>A E242D
chr7 2979513 A>G L245P
chr7 2979508 T>C R247G
chr7 2979501 T>G Q249P
chr7 2979499 A>G S250P
chr7 2979495 A>G L251P
chr7 2979493 T>A K252*
chr7 2979486 T>C K254R
chr7 2979481 C>T D256N
chr7 2977614 T>C D357G
chr7 2977614 T>A D357V
chr7 2977604 C>A M360I
chr7 2977602 T>G Y361S
chr7 2977602 T>C Y361C
Structure with HotMAPS hotspots
Structure with HotMAPS hotspots

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Expression

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References

1.
Lenz G, Davis RE, Ngo VN, Lam L, George TC, Wright GW, Dave SS, Zhao H, Xu W, Rosenwald A, Ott G, Müller-Hermelink HK, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Fisher RI, Chan WC, Staudt LM. Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. Science. 2008 Mar;319(5870):1676–1679.
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
3.
Wu C, de Miranda NF, Chen L, Wasik AM, Mansouri L, Jurczak W, Galazka K, Dlugosz-Danecka M, Machaczka M, Zhang H, Peng R, Morin RD, Rosenquist R, Sander B, Pan-Hammarström Q. Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations. Oncotarget. 2016 Jun 21;7(25):38180–38190. PMCID: PMC5122381
4.
Yan Q, Huang Y, Watkins AJ, Kocialkowski S, Zeng N, Hamoudi RA, Isaacson PG, de Leval L, Wotherspoon A, Du MQ. BCR and TLR signaling pathways are recurrently targeted by genetic changes in splenic marginal zone lymphomas. Haematologica. 2012 Apr;97(4):595–598. PMCID: PMC3347666

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