BCL10

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @russler-germainMutationsAssociatedProgression2023, @morinMutationalStructuralAnalysis2013, @morinFrequentMutationHistonemodifying2011, @xiaBCL10MutationsDefine2022, @spinaGeneticsNodalMarginal2016, @wrightProbabilisticClassificationTool2020, @phelanBCL10MutantsArchitects2022,

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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. BCL10 mutations are a feature of the BN2 genetic subgroup, mutated in nearly 40% of BN2 cases.[@wrightProbabilisticClassificationTool2020; @phelanBCL10MutantsArchitects2022]

Experimental Evidence

BCL10 missense mutations in the CARD domain and truncating mutations have distinct functions and different effects on BTK and MALT1 inhibitors. [@xiaBCL10MutationsDefine2022]

Relevance tier by entity

include:tables/table1_BCL10.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_BCL10.md

FL

include:tables/FL_BCL10.md

BL

include:tables/BL_BCL10.md

Mutation pattern and selective pressure estimates

include:tables/dnds_BCL10.md

BCL10 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr1	85736474	C>T	R58Q
chr1	85733390	G>A	Q208*
chr1	85733386	A>C	L209*

include:tables/browser_BCL10.md

Expression

include:tables/mermaid_BCL10.md

References