CREBBP.md
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## Experimental Evidence
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CREBBP missense mutations often affect the histone acetyltransferase (HAT) domain, crucial for regulating gene expression through chromatin modification, or generate a truncated protein.[@pasqualucciInactivatingMutationsAcetyltransferase2011]
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In a transgenic mouse model, CREBBP loss cooperated with BCL2 overexpression to promote B-cell lymphomagenesis.[@garcia-ramirezCrebbpLossCooperates2017]
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-Mutations in CREBBP and EP300 affect a common pathway and have been described as mutually exclusive due to some functional redundancy.[@pasqualucciInactivatingMutationsAcetyltransferase2011a; @veazeyCARM1InhibitionReduces2020b] 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]
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+Mutations in CREBBP and EP300 affect a common pathway and have been described as mutually exclusive due to some functional redundancy.[@pasqualucciInactivatingMutationsAcetyltransferase2011a; @veazeyCARM1InhibitionReduces2020] 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]
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## History
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|Entity|Tier|Description |
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|:------:|:----:|--------------------------------------|
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|![MZL](images/icons/MZL_tier2.png)|2|relevance in MZL not firmly established[@parryWholeExomeSequencing2013] |
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-|![PMBL](images/icons/PMBL_tier1.png)|1|high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021b] |
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-|![DLBCL](images/icons/DLBCL_tier1.png) |1-EE |high-confidence DLBCL gene supported by functional data[@pasqualucciInactivatingMutationsAcetyltransferase2011a] |
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-|![FL](images/icons/FL_tier1.png) |1-EE |high-confidence FL gene supported by functional data[@pasqualucciInactivatingMutationsAcetyltransferase2011a] |
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+|![PMBL](images/icons/PMBL_tier1.png)|1|high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021] |
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+|![DLBCL](images/icons/DLBCL_tier1.png) |1-EE |high-confidence DLBCL gene supported by functional data[@pasqualucciInactivatingMutationsAcetyltransferase2011] |
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+|![FL](images/icons/FL_tier1.png) |1-EE |high-confidence FL gene supported by functional data[@pasqualucciInactivatingMutationsAcetyltransferase2011] |
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|![BL](images/icons/BL_tier2.png) |2 |association with BL is tenuous[@loveGeneticLandscapeMutations2012]|
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## Mutation incidence in large patient cohorts (GAMBL reanalysis)