1258a5546cc7dd7bcdf02c54d3ad087984d53131
CREBBP.md
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| 1 | +--- |
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| 2 | +bibliography: 'morinlab.bib' |
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| 3 | +csl: 'NLM.csl' |
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| 4 | +link-citations: true |
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| 5 | +--- |
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| 6 | + |
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| 1 | 7 | # CREBBP |
| 2 | 8 | |
| 3 | 9 | ## Overview |
| 4 | -CREBBP mutations are highly prevalent in both DLBCL and FL. These mutations often affect the histone acetyltransferase (HAT) domain, crucial for regulating gene expression through chromatin modification, or generate a truncated protein.<sup>1</sup> This gene has some recurrent sites of mutations (hotspots), mostly in the HAT domain. The pattern of mutations in DLBCL is distinct from FL with the latter having more HAT domain mutations relative to truncating mutations.<sup>2</sup> |
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| 10 | +CREBBP mutations are highly prevalent in both DLBCL and FL.[@pasqualucciInactivatingMutationsAcetyltransferase2011a] These mutations often affect the histone acetyltransferase (HAT) domain, crucial for regulating gene expression through chromatin modification, or generate a truncated protein.<sup>1</sup> This gene has some recurrent sites of mutations (hotspots), mostly in the HAT domain. The pattern of mutations in DLBCL is distinct from FL with the latter having more HAT domain mutations relative to truncating mutations.[@drevalGeneticSubdivisionsFollicular2023] |
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| 5 | 11 | |
| 6 | 12 | ## History |
| 7 | 13 | |
| ... | ... | @@ -19,11 +25,11 @@ timeline |
| 19 | 25 | |
| 20 | 26 | |Entity|Tier|Description | |
| 21 | 27 | |:------:|:----:|--------------------------------------| |
| 22 | -||2|relevance in MZL not firmly established| |
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| 23 | -||1|high-confidence PMBL/cHL/GZL gene| |
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| 24 | -| |1 |high-confidence DLBCL gene | |
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| 25 | -| |1 |high-confidence FL gene | |
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| 26 | -| |2 |association with BL is tenuous| |
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| 28 | +||2|relevance in MZL not firmly established[@parryWholeExomeSequencing2013] | |
|
| 29 | +||1|high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021b] | |
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| 30 | +| |1 |high-confidence DLBCL gene[@pasqualucciInactivatingMutationsAcetyltransferase2011a] | |
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| 31 | +| |1 |high-confidence FL gene[@pasqualucciInactivatingMutationsAcetyltransferase2011a] | |
|
| 32 | +| |2 |association with BL is tenuous[@loveGeneticLandscapeMutations2012]| |
|
| 27 | 33 | |
| 28 | 34 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 29 | 35 | |
| ... | ... | @@ -94,8 +100,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 94 | 100 | <!-- DLBCL: pasqualucciInactivatingMutationsAcetyltransferase2011a --> |
| 95 | 101 | <!-- MZL: parryWholeExomeSequencing2013 --> |
| 96 | 102 | |
| 97 | -## References |
|
| 98 | -1. *Pasqualucci, L., Dominguez-Sola, D., Chiarenza, A., Fabbri, G., Grunn, A., Trifonov, V., Kasper, L., Lerach, S., Tang, H., Ma, J., Rossi, D., Chadburn, A., Murty, V., Mullighan, C., Gaidano, G., Rabadán, R., Brindle, P., & Dalla-Favera, R. (2010). Inactivating mutations of acetyltransferase genes in B-cell lymphoma. Nature, 471, 189 - 195. https://doi.org/10.1038/nature09730.* |
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| 99 | -2. *Dreval K, Hilton LK, Cruz M, Shaalan H, Ben-Neriah S, Boyle M, Collinge B, Coyle KM, Duns G, Farinha P, Grande BM, Meissner B, Pararajalingam P, Rushton CK, Slack GW, Wong J, Mungall AJ, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genetic subdivisions of follicular lymphoma defined by distinct coding and noncoding mutation patterns. Blood. 2023 Aug 10;142(6):561-573. doi: 10.1182/blood.2022018719. PMID: 37084389; PMCID: PMC10644066.* |
|
| 103 | +# References |
|
| 100 | 104 | |
| 101 | 105 | <!-- PMBL: dunsCharacterizationDLBCLPMBL2021b --> |
HNRNPU.md
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| 1 | +--- |
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| 2 | +bibliography: 'morinlab.bib' |
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| 3 | +csl: 'NLM.csl' |
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| 4 | +link-citations: true |
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| 5 | +--- |
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| 6 | + |
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| 1 | 7 | # HNRNPU |
| 2 | 8 | |
| 3 | 9 | ## History |
| ... | ... | @@ -14,8 +20,8 @@ timeline |
| 14 | 20 | |
| 15 | 21 | |Entity|Tier|Description | |
| 16 | 22 | |:------:|:----:|--------------------------| |
| 17 | -| |1-a | aSHM target and high-confidence BL gene | |
|
| 18 | -| |1-a | aSHM target and high-confidence DLBCL gene| |
|
| 23 | +| |1-a | aSHM target and high-confidence BL gene[@paneaWholeGenomeLandscape2019] | |
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| 24 | +| |1-a | aSHM target and high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017]| |
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| 19 | 25 | |
| 20 | 26 | ## Mutation incidence |
| 21 | 27 | |
| ... | ... | @@ -53,8 +59,7 @@ View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/ |
| 53 | 59 | |
| 54 | 60 | |
| 55 | 61 | ## References |
| 56 | -1. *Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.* |
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| 57 | -2. *Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;* |
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| 62 | + |
|
| 58 | 63 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 59 | 64 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 60 | 65 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
PCBP1.md
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| 1 | +--- |
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| 2 | +bibliography: 'morinlab.bib' |
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| 3 | +csl: 'NLM.csl' |
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| 4 | +link-citations: true |
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| 5 | +--- |
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| 6 | + |
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| 1 | 7 | # PCBP1 |
| 2 | 8 | |
| 3 | 9 | ## History |
| ... | ... | @@ -13,8 +19,8 @@ timeline |
| 13 | 19 | |Entity|Tier|Description | |
| 14 | 20 | |:------:|:----:|--------------------------| |
| 15 | 21 | ||2|relevance in PMBL/cHL/GZL not firmly established| |
| 16 | -| |1 |high-confidence BL gene | |
|
| 17 | -| |1 |high-confidence DLBCL gene| |
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| 22 | +| |1 |high-confidence BL gene[@schmitzBurkittLymphomaPathogenesis2012] | |
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| 23 | +| |1 |high-confidence DLBCL gene[@schmitzBurkittLymphomaPathogenesis2012]| |
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| 18 | 24 | |
| 19 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 26 | |
| ... | ... | @@ -61,5 +67,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 61 | 67 | <!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 --> |
| 62 | 68 | <!-- BL: schmitzBurkittLymphomaPathogenesis2012 --> |
| 63 | 69 | |
| 64 | -## References |
|
| 65 | -1. Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867 |
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| 70 | +# References |
TCF3.md
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| 1 | +--- |
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| 2 | +bibliography: 'morinlab.bib' |
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| 3 | +csl: 'NLM.csl' |
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| 4 | +link-citations: true |
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| 5 | +--- |
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| 6 | + |
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| 1 | 7 | # TCF3 |
| 2 | 8 | |
| 3 | 9 | ## History |
| ... | ... | @@ -13,7 +19,7 @@ timeline |
| 13 | 19 | |Entity|Tier|Description | |
| 14 | 20 | |:------:|:----:|-----------------------| |
| 15 | 21 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 16 | -| |1 |high-confidence BL gene| |
|
| 22 | +| |1 |high-confidence BL gene[@schmitzBurkittLymphomaPathogenesis2012]| |
|
| 17 | 23 | |
| 18 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 19 | 25 | |
| ... | ... | @@ -60,5 +66,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 60 | 66 | <!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 --> |
| 61 | 67 | <!-- BL: schmitzBurkittLymphomaPathogenesis2012 --> |
| 62 | 68 | |
| 63 | -## References |
|
| 64 | -1. Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867 |
|
| 69 | +# References |
TNFRSF14.md
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| 1 | +--- |
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| 2 | +bibliography: 'morinlab.bib' |
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| 3 | +csl: 'NLM.csl' |
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| 4 | +link-citations: true |
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| 5 | +--- |
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| 6 | + |
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| 1 | 7 | # TNFRSF14 |
| 2 | 8 | |
| 3 | 9 | ## History |
| 10 | + |
|
| 4 | 11 | ```mermaid |
| 5 | 12 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
| 6 | 13 | timeline |
| 7 | 14 | title Publication timing |
| 8 | 15 | 2010-11-15 : Cheung : FL |
| 16 | + 2011-07-27 : Morin : DLBCL |
|
| 9 | 17 | 2016-09-08 : Spina : MZL |
| 10 | 18 | ``` |
| 11 | 19 | |
| ... | ... | @@ -13,9 +21,9 @@ timeline |
| 13 | 21 | |
| 14 | 22 | |Entity|Tier|Description | |
| 15 | 23 | |:------:|:----:|--------------------------------------| |
| 16 | -||1|high-confidence MZL gene| |
|
| 17 | -| |1 |high-confidence DLBCL gene | |
|
| 18 | -| |1 |high-confidence FL gene | |
|
| 24 | +||1|high-confidence MZL gene[@spinaGeneticsNodalMarginal2016b] | |
|
| 25 | +| |1 |high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011] | |
|
| 26 | +| |1 |high-confidence FL gene[@cheungAcquiredTNFRSF14Mutations2010a] | |
|
| 19 | 27 | |
| 20 | 28 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 21 | 29 | |
| ... | ... | @@ -65,10 +73,11 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 65 | 73 | ## TNFRSF14 Expression |
| 66 | 74 |  |
| 67 | 75 | |
| 68 | -## References |
|
| 69 | -1. *Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Ch$ |
|
| 70 | 76 | |
| 71 | -<!-- ORIGIN: cheungAcquiredTNFRSF14Mutations2010a --> |
|
| 77 | +<!-- ORIGIN: cheungAcquiredTNFRSF14Mutations2010a @cheungAcquiredTNFRSF14Mutations2010a --> |
|
| 72 | 78 | <!-- FL: cheungAcquiredTNFRSF14Mutations2010a --> |
| 73 | -<!-- MZL: spinaGeneticsNodalMarginal2016b --> |
|
| 79 | +<!-- MZL: spinaGeneticsNodalMarginal2016b @spinaGeneticsNodalMarginal2016b --> |
|
| 74 | 80 | <!-- DLBCL: cheungAcquiredTNFRSF14Mutations2010a --> |
| 81 | + |
|
| 82 | +# References |
|
| 83 | + |