GNAI2.md
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## Overview
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-Mutations in the GNAI2 gene, which encodes the G protein alpha subunit involved in signal transduction, have been identified as significant contributors to the pathogenesis of B-cell lymphomas, including BL, DLBCL and, to a lesser extent, FL.<sup>1</sup> Mutations in GNAI2, along with GNA13 and other small GTPases, affect the signaling pathways that regulate B-cell homing. These mutations are thought to cause aberrant localization and function of B-cells within lymphoid tissues.<sup>1</sup> The functional role of these mutations has not been studied as extensively as those in GNA13 and further work is needed to elucidate the specific role of these mutations in lymphomagenesis.
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+Mutations in the GNAI2 gene, which encodes the G protein alpha subunit involved in signal transduction, have been identified as significant contributors to the pathogenesis of B-cell lymphomas, including BL, DLBCL and, to a lesser extent, FL.[@grandeGenomewideDiscoverySomatic2019] Mutations in GNAI2, along with GNA13 and other small GTPases, affect the signaling pathways that regulate B-cell homing. These mutations are thought to cause aberrant localization and function of B-cells within lymphoid tissues.[@grandeGenomewideDiscoverySomatic2019] The functional role of these mutations has not been studied as extensively as those in GNA13 and further work is needed to elucidate the specific role of these mutations in lymphomagenesis.
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-Mutations were first described in DLBCL in 2013 by Morin et al<sup>1</sup> and in BL in 2019 by Grande et al.<sup>2</sup>
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+Mutations were first described in DLBCL in 2013 by Morin et al[@morinMutationalStructuralAnalysis2013] and in BL in 2019 by Grande et al.[@grandeGenomewideDiscoverySomatic2019]
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## Relevance tier by entity
KMT2D.md
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## Overview
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KMT2D (also known as MLL2) encodes a histone H3K4 methyltransferase, playing a crucial role in germinal center B cell development and function.
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-Mutations in KMT2D are among the most common mutations in FL and are also common in DLBCL.<sup>1</sup>
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+Mutations in KMT2D are among the most common mutations in FL and are also common in DLBCL.[@morinFrequentMutationHistonemodifying2011]
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KMT2D mutations are recurrent but less common in BL and MCL and many other B-cell neoplasms. Mutations typically cause loss of KMT2D function, leading to diminished H3K4 methylation, impacting gene expression that favours lymphomagenesis.
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- KMT2D mutations are associated with poor prognosis in DLBCL.<sup>2,3</sup>
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+ KMT2D mutations are associated with poor prognosis in DLBCL.[@deschGenotypingCirculatingTumor2020; @morinFrequentMutationHistonemodifying2011]
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-First identified as mutated in DLBCL and FL in 2011 by Morin et al.<sup>1</sup>
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-Mutations were later described in MCL in 2013 by Bea et al.<sup>4</sup> KMT2D mutations were later reported in BL by Grande et al.<sup>5</sup>
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+First identified as mutated in DLBCL and FL in 2011 by Morin et al.[@morinFrequentMutationHistonemodifying2011]
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+Mutations were later described in MCL in 2013 by Bea et al.[@beaLandscapeSomaticMutations2013] KMT2D mutations were later reported in BL by Grande et al.[@grandeGenomewideDiscoverySomatic2019]
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## Relevance tier by entity
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|![PMBL](images/icons/PMBL_tier2.png)|2|relevance in PMBL/cHL/GZL not firmly established[@deschGenotypingCirculatingTumor2020]|
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|![FL](images/icons/FL_tier1.png) |1 |high-confidence FL gene [@morinFrequentMutationHistonemodifying2011]|
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|![DLBCL](images/icons/DLBCL_tier1.png) |1 |high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011]|
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-|![BL](images/icons/BL_tier1.png) |1 |high-confidence BL gene [@grandeGenomewideDiscoverySomatic2019]|
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+|![BL](images/icons/BL_tier1.png) |1 |high-confidence BL gene |
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|![MCL](images/icons/MCL_tier1.png) |1 |high-confidence MCL gene [@beaLandscapeSomaticMutations2013]|
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## Mutation incidence in large patient cohorts (GAMBL reanalysis)
NR2F2.md
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---
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[[_TOC_]]
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-# NR2F2
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-
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## Overview
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RFX7.md
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---
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[[_TOC_]]
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-First described as mutated in BL in 2009 by Grande et al.<sup>1</sup>
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+First described as mutated in BL in 2009 by Grande et al.[@grandeGenomewideDiscoverySomatic2019]
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## Relevance tier by entity