BCL7A.md
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## Overview
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-BCL7A protein interacts with components of the SWI/SNF chromatin remodeling complex, implicating it in chromatin remodeling processes essential for normal cellular function.<sup>1</sup> Mutations in the BCL7A gene have been identified in diffuse large B-cell lymphoma (DLBCL) and other B-cell lymphomas, implicating this gene in the pathogenesis of these cancers. Importantly, BCL7A is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Due to the presence of some loss-of-function mutations, BCL7A has been described as a tumour-suppressor gene in DLBCL.<sup>2</sup> The rate of DLBCLs with biallelic loss of this locus remains unclear.
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-## History
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-Mutations in this gene were first described in FL in 2017 by Krysiak et al.<sup>3</sup> Mutations were described in DLBCL in 2018 by Arthur et al<sup>4</sup> and in BL in 2019 by Grande et al.<sup>5</sup>
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+BCL7A protein interacts with components of the SWI/SNF chromatin remodeling complex, implicating it in chromatin remodeling processes essential for normal cellular function.<sup>1</sup> Mutations in the BCL7A gene have been identified in diffuse large B-cell lymphoma (DLBCL) and other B-cell lymphomas, implicating this gene in the pathogenesis of these cancers. Importantly, BCL7A is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Due to the presence of some loss-of-function mutations, BCL7A has been described as a tumour-suppressor gene in DLBCL. The rate of DLBCLs with biallelic loss of this locus remains unclear.
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```mermaid
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|Entity|Tier|Description |
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|:------:|:----:|--------------------------------------|
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|![MZL](images/icons/MZL_tier1.png)|1|high-confidence MZL gene|
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-|![PMBL](images/icons/PMBL_tier2.png)|2|relevance in PMBL/cHL/GZL not firmly established|
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-|![DLBCL](images/icons/DLBCL_tier1.png) |1-a | aSHM target and high-confidence DLBCL gene |
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-|![FL](images/icons/FL_tier1.png) |1-a | aSHM target and high-confidence FL gene |
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-|![BL](images/icons/BL_tier2.png) |2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
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+|![PMBL](images/icons/PMBL_tier2.png)|2|relevance in PMBL/cHL/GZL not firmly established[@reichelFlowSortingExome2015a]|
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+|![DLBCL](images/icons/DLBCL_tier1.png) |1-a | aSHM target and high-confidence DLBCL gene [@arthurGenomewideDiscoverySomatic2018] |
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+|![FL](images/icons/FL_tier1.png) |1-a | aSHM target and high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
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+|![BL](images/icons/BL_tier2.png) |2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@grandeGenomewideDiscoverySomatic2019]|
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## Mutation incidence in large patient cohorts (GAMBL reanalysis)