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
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
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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 |
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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
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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