RGD Reference Report - Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. - Rat Genome Database

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Oncogenic CARD11 mutations in human diffuse large B cell lymphoma.

Authors: Lenz, G  Davis, RE  Ngo, VN  Lam, L  George, TC  Wright, GW  Dave, SS  Zhao, H  Xu, W  Rosenwald, A  Ott, G  Muller-Hermelink, HK  Gascoyne, RD  Connors, JM  Rimsza, LM  Campo, E  Jaffe, ES  Delabie, J  Smeland, EB  Fisher, RI  Chan, WC  Staudt, LM 
Citation: Lenz G, etal., Science. 2008 Mar 21;319(5870):1676-9. doi: 10.1126/science.1153629. Epub 2008 Mar 6.
RGD ID: 11100036
Pubmed: PMID:18323416   (View Abstract at PubMed)
DOI: DOI:10.1126/science.1153629   (Journal Full-text)

Diffuse large B cell lymphoma (DLBCL) is the most common form of non-Hodgkin's lymphoma. In the least curable (ABC) subtype of DLBCL, survival of the malignant cells is dependent on constitutive activation of the nuclear factor-kappaB (NF-kappaB) signaling pathway. In normal B cells, antigen receptor-induced NF-kappaB activation requires CARD11, a cytoplasmic scaffolding protein. To determine whether CARD11 contributes to tumorigenesis, we sequenced the CARD11 gene in human DLBCL tumors. We detected missense mutations in 7 of 73 ABC DLBCL biopsies (9.6%), all within exons encoding the coiled-coil domain. Experimental introduction of CARD11 coiled-coil domain mutants into lymphoma cell lines resulted in constitutive NF-kappaB activation and enhanced NF-kappaB activity upon antigen receptor stimulation. These results demonstrate that CARD11 is a bona fide oncogenein DLBCL, providing a genetic rationale for the development of pharmacological inhibitors of the CARD11 pathway for DLBCL therapy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
diffuse large B-cell lymphoma  IAGP 11100036DNA:missense mutations:exons:multiple (human)RGD 
diffuse large B-cell lymphoma  ISOCARD11 (Homo sapiens)11100036; 11100036DNA:missense mutations:exons:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Card11  (caspase recruitment domain family, member 11)

Genes (Mus musculus)
Card11  (caspase recruitment domain family, member 11)

Genes (Homo sapiens)
CARD11  (caspase recruitment domain family member 11)


Additional Information