BCL10 - morinlab/LLMPP GitHub Wiki

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

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]