ACTG1.md
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[[_TOC_]]
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+## Overview
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ACTG1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas. The function of mutations in ACTB and ACTG1 have not yet been determined.[@witjesPrevalenceCytoplasmicActin2020]
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BLK.md
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csl: 'NLM.csl'
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link-citations: true
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---
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-# BLK
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## Relevance tier by entity
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BTBD3.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.
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FAS.md
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## Overview
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FAS encodes a cell surface receptor involved in the induction of apoptosis. FAS mutations are common in DLBCL and may be more frequent in primary gastric DLBCL.[@wohlfartFASCD95Mutations2004],[@schollMutationsRegionFAS2007]
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-Mutations also occur in FL at a lower rate.[@morinFrequentMutationHistonemodifying2011] Although reported in one BL study,[[@paneaWholeGenomeLandscape2019] overall the evidence for FAS mutations in BL remains sparse.
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+Mutations also occur in FL at a lower rate.[@morinFrequentMutationHistonemodifying2011] Although reported in one BL study,[@paneaWholeGenomeLandscape2019] overall the evidence for FAS mutations in BL remains sparse.
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Mutations in FAS often lead to a loss of function, making lymphoma cells resistant to Fas ligand-induced apoptosis,
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thereby allowing malignant cells to evade immune surveillance.[@rysFasMutationsNonHodgkins2019]
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In mouse models, Fas mutations led to a significantly shorter lymphoma-specific survival and reduced sensitivity to chemotherapy.[@rysFasMutationsNonHodgkins2019]
HLA-DQA1.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]
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ID3.md
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---
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[[_TOC_]]
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+## Overview
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ID3 was first reported as mutated in BL in 2012 by Richter et al.[@richterRecurrentMutationID32012]
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The existence of mutations in DLBCL were described in 2012 by Schmitz et al[@schmitzBurkittLymphomaPathogenesis2012] and later in MZL by Spina et al.[@spinaGeneticsNodalMarginal2016]
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IKBKE.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[[@hubschmannMutationalMechanismsShaping2021]]
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INO80.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.
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JUP.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]
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LAPTM5.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]
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NFKBIE.md
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[[_TOC_]]
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## Overview
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-NFKBIE encodes IκBε, a negative regulator of NF-κB. Mutations in NFKBIE can disrupt this regulatory function, leading to constitutive activation of NF-κB signaling.<sup>1</sup> Mutations are relatively common in DLBCL and MCL.[@morinGeneticLandscapesRelapsed2016]
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+NFKBIE encodes IκBε, a negative regulator of NF-κB. Mutations in NFKBIE can disrupt this regulatory function, leading to constitutive activation of NF-κB signaling.[@mansouriFrequentNFKBIEDeletions2016] Mutations are relatively common in DLBCL and MCL.[@morinGeneticLandscapesRelapsed2016]
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PNPO.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]
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RBM6.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]
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RFX7.md
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---
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[[_TOC_]]
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+## Overview
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First described as mutated in BL in 2009 by Grande et al.[@grandeGenomewideDiscoverySomatic2019]
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SETD2.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.
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STAT5B.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.
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TFAP4.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in BL were first described by Grande et al.[@grandeGenomewideDiscoverySomatic2019]
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UBR5.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.
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ZEB2.md
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---
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[[_TOC_]]
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+## Overview
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Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.
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