502a878340b453b4a5372689ec305d7cae01153b
CCND3.md
| ... | ... | @@ -7,7 +7,7 @@ link-citations: true |
| 7 | 7 | # CCND3 |
| 8 | 8 | |
| 9 | 9 | ## Overview |
| 10 | -CCND3 (Cyclin D3) is a gene that encodes a protein involved in the regulation of the cell cycle. Mutations in CCND3 are implicated in various types of B-cell lymphomas, including Burkitt lymphoma and diffuse large B-cell lymphoma (DLBCL).[@richterRecurrentMutationID32012a; @morinFrequentMutationHistonemodifying2011] |
|
| 10 | +CCND3 (Cyclin D3) is a gene that encodes a protein involved in the regulation of the cell cycle. Mutations in CCND3 are implicated in various types of B-cell lymphomas, including Burkitt lymphoma and diffuse large B-cell lymphoma (DLBCL).[@richterRecurrentMutationID32012; @morinFrequentMutationHistonemodifying2011] |
|
| 11 | 11 | |
| 12 | 12 | ## Experimental Evidence |
| 13 | 13 | Somatic mutations in CCND3 often stabilize the Cyclin D3 protein by altering the phosphorylation motif, which is crucial for proteasomal degradation. These mutations are associated with an increase in Cyclin D3 protein stability and oncogenic potential.[@schmitzBurkittLymphomaPathogenesis2012] |
CD83.md
| ... | ... | @@ -34,7 +34,7 @@ timeline |
| 34 | 34 | |Entity|Tier|Description | |
| 35 | 35 | |:------:|:----:|--------------------------------------| |
| 36 | 36 | ||1|high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021]| |
| 37 | -| |1-a | aSHM target and high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013; @schmitzGeneticsPathogenesisDiffuse2018a; @reddyGeneticFunctionalDrivers2017]| |
|
| 37 | +| |1-a | aSHM target and high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013; @schmitzGeneticsPathogenesisDiffuse2018; @reddyGeneticFunctionalDrivers2017]| |
|
| 38 | 38 | | |1-a | aSHM target and high-confidence FL gene [@russler-germainMutationsAssociatedProgression2023]| |
| 39 | 39 | | |2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]| |
| 40 | 40 |
PIM2.md
| ... | ... | @@ -26,7 +26,7 @@ timeline |
| 26 | 26 | |Entity|Tier|Description | |
| 27 | 27 | |:------:|:----:|--------------------------| |
| 28 | 28 | ||1|high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015]| |
| 29 | -| |1 | aSHM target and high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018a; @arthurGenomewideDiscoverySomatic2018]| |
|
| 29 | +| |1 | aSHM target and high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018; @arthurGenomewideDiscoverySomatic2018]| |
|
| 30 | 30 | |
| 31 | 31 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 32 | 32 |
POU2F2.md
| ... | ... | @@ -23,7 +23,7 @@ timeline |
| 23 | 23 | |
| 24 | 24 | |Entity|Tier|Description | |
| 25 | 25 | |:------:|:----:|--------------------------| |
| 26 | -| |1 |high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012a; @zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017]| |
|
| 26 | +| |1 |high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012; @zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017]| |
|
| 27 | 27 | | |1 |high-confidence FL gene [@krysiakRecurrentSomaticMutations2017]| |
| 28 | 28 | |
| 29 | 29 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
PRDM1.md
| ... | ... | @@ -22,7 +22,7 @@ timeline |
| 22 | 22 | |
| 23 | 23 | |Entity|Tier|Description | |
| 24 | 24 | |:------:|:----:|--------------------------------------| |
| 25 | -| |1 |high-confidence DLBCL gene [@pasqualucciInactivationPRDM1BLIMP12006a; @zhangGeneticHeterogeneityDiffuse2013; @morinMutationalStructuralAnalysis2013; @reddyGeneticFunctionalDrivers2017]| |
|
| 25 | +| |1 |high-confidence DLBCL gene [@pasqualucciInactivationPRDM1BLIMP12006; @zhangGeneticHeterogeneityDiffuse2013; @morinMutationalStructuralAnalysis2013; @reddyGeneticFunctionalDrivers2017]| |
|
| 26 | 26 | |
| 27 | 27 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 28 | 28 |
S1PR2.md
| ... | ... | @@ -29,7 +29,7 @@ timeline |
| 29 | 29 | |:------:|:----:|--------------------------------------| |
| 30 | 30 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 31 | 31 | | |2 | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@muppidiLossSignalingGa132014]| |
| 32 | -| |1 | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011; @lohrDiscoveryPrioritizationSomatic2012a; @morinMutationalStructuralAnalysis2013]| |
|
| 32 | +| |1 | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011; @lohrDiscoveryPrioritizationSomatic2012; @morinMutationalStructuralAnalysis2013]| |
|
| 33 | 33 | | |1 | aSHM target and high-confidence FL gene | |
| 34 | 34 | |
| 35 | 35 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
SIN3A.md
| ... | ... | @@ -25,7 +25,7 @@ timeline |
| 25 | 25 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 26 | 26 | | |1 |high-confidence BL gene [@grandeGenomewideDiscoverySomatic2019]| |
| 27 | 27 | | |1 |high-confidence MZL gene [@rossiCodingGenomeSplenic2012]| |
| 28 | -| |1 |high-confidence DLBCL gene[@chapuyMolecularSubtypesDiffuse2018b; @arthurGenomewideDiscoverySomatic2018]| |
|
| 28 | +| |1 |high-confidence DLBCL gene[@chapuyMolecularSubtypesDiffuse2018; @arthurGenomewideDiscoverySomatic2018]| |
|
| 29 | 29 | |
| 30 | 30 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 31 | 31 |
SOCS1.md
| ... | ... | @@ -27,7 +27,7 @@ timeline |
| 27 | 27 | |:------:|:----:|--------------------------------------| |
| 28 | 28 | ||1|high-confidence MZL gene| |
| 29 | 29 | ||1|high-confidence PMBL/cHL/GZL gene[@wenigerMutationsTumorSuppressor2006]| |
| 30 | -| |1 | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011; @lohrDiscoveryPrioritizationSomatic2012a; @zhangGeneticHeterogeneityDiffuse2013; @morinMutationalStructuralAnalysis2013]| |
|
| 30 | +| |1 | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011; @lohrDiscoveryPrioritizationSomatic2012; @zhangGeneticHeterogeneityDiffuse2013; @morinMutationalStructuralAnalysis2013]| |
|
| 31 | 31 | | |1 | aSHM target and high-confidence FL gene | |
| 32 | 32 | |
| 33 | 33 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
SPEN.md
| ... | ... | @@ -27,7 +27,7 @@ timeline |
| 27 | 27 | |:------:|:----:|--------------------------| |
| 28 | 28 | ||1|high-confidence MZL gene[@rossiCodingGenomeSplenic2012]| |
| 29 | 29 | ||1|high-confidence PMBL/cHL/GZL gene[@sarkozyMutationalLandscapeGray2021]| |
| 30 | -| |1 |high-confidence DLBCL gene[@albuquerqueEnhancingKnowledgeDiscovery2017a; @reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018a]| |
|
| 30 | +| |1 |high-confidence DLBCL gene[@albuquerqueEnhancingKnowledgeDiscovery2017; @reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018]| |
|
| 31 | 31 | |
| 32 | 32 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 33 | 33 |
STAT3.md
| ... | ... | @@ -26,7 +26,7 @@ timeline |
| 26 | 26 | |Entity|Tier|Description | |
| 27 | 27 | |:------:|:----:|--------------------------------------| |
| 28 | 28 | ||1|high-confidence PMBL/cHL/GZL gene[@ohgamiSTAT3MutationsAre2014]| |
| 29 | -| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012a; @morinFrequentMutationHistonemodifying2011; @reddyGeneticFunctionalDrivers2017]| |
|
| 29 | +| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012; @morinFrequentMutationHistonemodifying2011; @reddyGeneticFunctionalDrivers2017]| |
|
| 30 | 30 | |
| 31 | 31 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 32 | 32 |
TBL1XR1.md
| ... | ... | @@ -28,7 +28,7 @@ timeline |
| 28 | 28 | |:------:|:----:|--------------------------------------| |
| 29 | 29 | ||1|high-confidence MZL gene[@rossiCodingGenomeSplenic2012]| |
| 30 | 30 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 31 | -| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012a; @morinMutationalStructuralAnalysis2013]| |
|
| 31 | +| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012; @morinMutationalStructuralAnalysis2013]| |
|
| 32 | 32 | | |1 |high-confidence FL gene | |
| 33 | 33 | |
| 34 | 34 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
TOX.md
| ... | ... | @@ -20,7 +20,7 @@ timeline |
| 20 | 20 | |
| 21 | 21 | |Entity|Tier|Description | |
| 22 | 22 | |:------:|:----:|--------------------------------------| |
| 23 | -| |1 |high-confidence DLBCL gene [@reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018a; @chapuyMolecularSubtypesDiffuse2018b; @hubschmannMutationalMechanismsShaping2021b]| |
|
| 23 | +| |1 |high-confidence DLBCL gene [@reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018; @chapuyMolecularSubtypesDiffuse2018; @hubschmannMutationalMechanismsShaping2021]| |
|
| 24 | 24 | |
| 25 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 26 | 26 |
UBE2A.md
| ... | ... | @@ -25,7 +25,7 @@ timeline |
| 25 | 25 | |Entity|Tier|Description | |
| 26 | 26 | |:------:|:----:|--------------------------------------| |
| 27 | 27 | ||1|high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015]| |
| 28 | -| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012a; @albuquerqueEnhancingKnowledgeDiscovery2017a; @reddyGeneticFunctionalDrivers2017]| |
|
| 28 | +| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012; @albuquerqueEnhancingKnowledgeDiscovery2017; @reddyGeneticFunctionalDrivers2017]| |
|
| 29 | 29 | |
| 30 | 30 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 31 | 31 |
ZC3H12A.md
| ... | ... | @@ -19,7 +19,7 @@ timeline |
| 19 | 19 | |Entity|Tier|Description | |
| 20 | 20 | |:------:|:----:|--------------------------------------| |
| 21 | 21 | ||2|relevance in MCL not firmly established| |
| 22 | -| |1 |high-confidence DLBCL gene [@chapuyMolecularSubtypesDiffuse2018b; @arthurGenomewideDiscoverySomatic2018]| |
|
| 22 | +| |1 |high-confidence DLBCL gene [@chapuyMolecularSubtypesDiffuse2018; @arthurGenomewideDiscoverySomatic2018]| |
|
| 23 | 23 | | |2 |relevance in FL not firmly established| |
| 24 | 24 | |
| 25 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |