9a300ffeb46129e9af13779ef5e802d9a4c64b72
EP300.md
| ... | ... | @@ -9,7 +9,7 @@ link-citations: true |
| 9 | 9 | Mutations in EP300 are significant contributors to the pathogenesis and progression of B-cell lymphomas such as DLBCL and FL.[@pasqualucciInactivatingMutationsAcetyltransferase2011] This gene has some recurrent sites of mutations (hot spots), which typically impact its HAT domain, a region crucial for acetylating histones and non-histone proteins.[@pasqualucciInactivatingMutationsAcetyltransferase2011] |
| 10 | 10 | |
| 11 | 11 | ## Experimental Evidence |
| 12 | -EP300 mutations impair histone acetylation, disrupt epigenetic gene regulation. Mutations in CREBBP and EP300 affect a common pathway and have been described as mutually exclusive due to some functional redundancy.[@pasqualucciInactivatingMutationsAcetyltransferase2011a; @veazeyCARM1InhibitionReduces2020b] |
|
| 12 | +EP300 mutations impair histone acetylation, disrupt epigenetic gene regulation. Mutations in CREBBP and EP300 affect a common pathway and have been described as mutually exclusive due to some functional redundancy.[@pasqualucciInactivatingMutationsAcetyltransferase2011; @veazeyCARM1InhibitionReduces2020] |
|
| 13 | 13 | Studies using genome-wide CRISPR-Cas9 screens have identified synthetic lethal interactions between CREBBP and EP300, suggesting that targeting one may affect the viability of cells with mutations in the other.[@nieGenomewideCRISPRScreens2021] |
| 14 | 14 | |
| 15 | 15 | ## History |
| ... | ... | @@ -30,9 +30,9 @@ timeline |
| 30 | 30 | |
| 31 | 31 | |Entity|Tier|Description | |
| 32 | 32 | |:------:|:----:|--------------------------------------| |
| 33 | -||1|high-confidence MZL gene[@rossiCodingGenomeSplenic2012c]| |
|
| 34 | -| |1-EE |high-confidence DLBCL gene supported by functional data [@pasqualucciInactivatingMutationsAcetyltransferase2011a]| |
|
| 35 | -| |1-EE |high-confidence FL gene supported by functional data [@pasqualucciInactivatingMutationsAcetyltransferase2011a]| |
|
| 33 | +||1|high-confidence MZL gene[@rossiCodingGenomeSplenic2012]| |
|
| 34 | +| |1-EE |high-confidence DLBCL gene supported by functional data [@pasqualucciInactivatingMutationsAcetyltransferase2011]| |
|
| 35 | +| |1-EE |high-confidence FL gene supported by functional data [@pasqualucciInactivatingMutationsAcetyltransferase2011]| |
|
| 36 | 36 | |
| 37 | 37 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 38 | 38 |
FAS.md
| ... | ... | @@ -31,7 +31,7 @@ timeline |
| 31 | 31 | |Entity|Tier|Description | |
| 32 | 32 | |:------:|:----:|--------------------------------------| |
| 33 | 33 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 34 | -||1|high-confidence MZL gene[@spinaGeneticsNodalMarginal2016b]| |
|
| 34 | +||1|high-confidence MZL gene[@spinaGeneticsNodalMarginal2016]| |
|
| 35 | 35 | | |1 |high-confidence DLBCL gene [@schollMutationsRegionFAS2007]| |
| 36 | 36 | | |1 |high-confidence FL gene | |
| 37 | 37 |
HIST1H1D.md
| ... | ... | @@ -6,7 +6,7 @@ link-citations: true |
| 6 | 6 | # HIST1H1D |
| 7 | 7 | |
| 8 | 8 | ## Overview |
| 9 | -This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.[@morinMutationalStructuralAnalysis2013; @krysiakRecurrentSomaticMutations2017b] |
|
| 9 | +This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.[@morinMutationalStructuralAnalysis2013; @krysiakRecurrentSomaticMutations2017] |
|
| 10 | 10 | Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins. |
| 11 | 11 | |
| 12 | 12 | ## History |
HIST1H1E.md
| ... | ... | @@ -25,9 +25,9 @@ timeline |
| 25 | 25 | |
| 26 | 26 | |Entity|Tier|Description | |
| 27 | 27 | |:------:|:----:|--------------------------------------| |
| 28 | -||1|high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a]| |
|
| 29 | -| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012a]| |
|
| 30 | -| |1 |high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b]| |
|
| 28 | +||1|high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015]| |
|
| 29 | +| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012]| |
|
| 30 | +| |1 |high-confidence FL gene [@krysiakRecurrentSomaticMutations2017]| |
|
| 31 | 31 | | |2 |relevance in BL not firmly established[@grandeGenomewideDiscoverySomatic2019]| |
| 32 | 32 | |
| 33 | 33 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
HIST1H2AC.md
| ... | ... | @@ -21,7 +21,7 @@ timeline |
| 21 | 21 | |
| 22 | 22 | |Entity|Tier|Description | |
| 23 | 23 | |:------:|:----:|--------------------------| |
| 24 | -| |1 |high-confidence DLBCL gene[@morinMutationalStructuralAnalysis2013; @chapuyMolecularSubtypesDiffuse2018b; @hubschmannMutationalMechanismsShaping2021b]| |
|
| 24 | +| |1 |high-confidence DLBCL gene[@morinMutationalStructuralAnalysis2013; @chapuyMolecularSubtypesDiffuse2018; @hubschmannMutationalMechanismsShaping2021]| |
|
| 25 | 25 | | |1 |high-confidence FL gene [@krysiakRecurrentSomaticMutations2017]| |
| 26 | 26 | |
| 27 | 27 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
ID3.md
| ... | ... | @@ -22,8 +22,8 @@ The existence of mutations in DLBCL were described in 2012 by Schmitz et al[@sch |
| 22 | 22 | |
| 23 | 23 | |Entity|Tier|Description | |
| 24 | 24 | |:------:|:----:|-----------------------------------------| |
| 25 | -| |1 | high-confidence BL gene [@richterRecurrentMutationID32012a]| |
|
| 26 | -| |1 | high-confidence MZL gene [@spinaGeneticsNodalMarginal2016b]| |
|
| 25 | +| |1 | high-confidence BL gene [@richterRecurrentMutationID32012]| |
|
| 26 | +| |1 | high-confidence MZL gene [@spinaGeneticsNodalMarginal2016]| |
|
| 27 | 27 | | |2 | Although recurrent, the relevance of mutations in DLBCL is tenuous[@schmitzBurkittLymphomaPathogenesis2012]| |
| 28 | 28 | |
| 29 | 29 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
JUNB.md
| ... | ... | @@ -24,7 +24,7 @@ timeline |
| 24 | 24 | |Entity|Tier|Description | |
| 25 | 25 | |:------:|:----:|--------------------------| |
| 26 | 26 | ||2|relevance in PMBL/cHL/GZL not firmly established[@mottokIntegrativeGenomicAnalysis2019]| |
| 27 | -| |1 |high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017; @hubschmannMutationalMechanismsShaping2021b]| |
|
| 27 | +| |1 |high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017; @hubschmannMutationalMechanismsShaping2021]| |
|
| 28 | 28 | |
| 29 | 29 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 30 | 30 |
MAP7D1.md
| ... | ... | @@ -17,7 +17,7 @@ timeline |
| 17 | 17 | |
| 18 | 18 | |Entity|Tier|Description | |
| 19 | 19 | |:------:|:----:|--------------------------------------| |
| 20 | -| |2 |relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023b]| |
|
| 20 | +| |2 |relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023]| |
|
| 21 | 21 | |
| 22 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 23 | 23 |
MCL1.md
| ... | ... | @@ -24,7 +24,7 @@ timeline |
| 24 | 24 | |
| 25 | 25 | |Entity|Tier|Description | |
| 26 | 26 | |:------:|:----:|--------------------------------------| |
| 27 | -||2|relevance in PMBL/cHL/GZL not firmly established[@dunsCharacterizationDLBCLPMBL2021b]| |
|
| 27 | +||2|relevance in PMBL/cHL/GZL not firmly established[@dunsCharacterizationDLBCLPMBL2021]| |
|
| 28 | 28 | | |2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]| |
| 29 | 29 | | |1-a | aSHM target and high-confidence DLBCL gene [@reddyGeneticFunctionalDrivers2017]| |
| 30 | 30 |