f4fc22f2db334dd56c6bc3530f3a5a41bf93c4df
ACTG1.md
| ... | ... | @@ -6,6 +6,9 @@ link-citations: true |
| 6 | 6 | |
| 7 | 7 | [[_TOC_]] |
| 8 | 8 | |
| 9 | + |
|
| 10 | +## Overview |
|
| 11 | + |
|
| 9 | 12 | 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] |
| 10 | 13 | |
| 11 | 14 |
BLK.md
| ... | ... | @@ -3,7 +3,6 @@ bibliography: 'morinlab.bib' |
| 3 | 3 | csl: 'NLM.csl' |
| 4 | 4 | link-citations: true |
| 5 | 5 | --- |
| 6 | -# BLK |
|
| 7 | 6 | |
| 8 | 7 | ## Relevance tier by entity |
| 9 | 8 |
BTBD3.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | 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. |
| 9 | 11 | |
| 10 | 12 |
FAS.md
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| 7 | 7 | |
| 8 | 8 | ## Overview |
| 9 | 9 | 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] |
| 10 | -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. |
|
| 10 | +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. |
|
| 11 | 11 | Mutations in FAS often lead to a loss of function, making lymphoma cells resistant to Fas ligand-induced apoptosis, |
| 12 | 12 | thereby allowing malignant cells to evade immune surveillance.[@rysFasMutationsNonHodgkins2019] |
| 13 | 13 | 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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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021] |
| 9 | 11 | |
| 10 | 12 |
ID3.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | ID3 was first reported as mutated in BL in 2012 by Richter et al.[@richterRecurrentMutationID32012] |
| 9 | 11 | The existence of mutations in DLBCL were described in 2012 by Schmitz et al[@schmitzBurkittLymphomaPathogenesis2012] and later in MZL by Spina et al.[@spinaGeneticsNodalMarginal2016] |
| 10 | 12 |
IKBKE.md
| ... | ... | @@ -5,6 +5,8 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[[@hubschmannMutationalMechanismsShaping2021]] |
| 9 | 11 | |
| 10 | 12 |
INO80.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 8 | 9 | |
| 9 | 10 | 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. |
| 10 | 11 |
JUP.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | Mutations in this gene were first described in FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021] |
| 9 | 11 | |
| 10 | 12 |
LAPTM5.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021] |
| 9 | 11 | |
| 10 | 12 |
NFKBIE.md
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| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | 8 | ## Overview |
| 9 | -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] |
|
| 9 | +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] |
|
| 10 | 10 | |
| 11 | 11 | |
| 12 | 12 |
PNPO.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021] |
| 9 | 11 | |
| 10 | 12 |
RBM6.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021] |
| 9 | 11 | |
| 10 | 12 |
RFX7.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | First described as mutated in BL in 2009 by Grande et al.[@grandeGenomewideDiscoverySomatic2019] |
| 9 | 11 | |
| 10 | 12 |
SETD2.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | 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. |
| 9 | 11 | |
| 10 | 12 |
STAT5B.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | 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. |
| 9 | 11 | |
| 10 | 12 |
TFAP4.md
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| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | Mutations in BL were first described by Grande et al.[@grandeGenomewideDiscoverySomatic2019] |
| 9 | 11 | |
| 10 | 12 |
UBR5.md
| ... | ... | @@ -5,6 +5,8 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | 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. |
| 9 | 11 | |
| 10 | 12 |
ZEB2.md
| ... | ... | @@ -5,6 +5,8 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 8 | 10 | 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. |
| 9 | 11 | |
| 10 | 12 |