04ec13523005f95816ce58fbaad609f2841b2e54
MYD88.md
| ... | ... | @@ -1,9 +1,17 @@ |
| 1 | 1 | # MYD88 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2011-02-03 : Ngo : DLBCL |
|
| 8 | + 2012-04-01 : Yan : MZL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| 6 | 13 | |:------:|:----:|--------------------------------------| |
| 14 | +||1|high-confidence MZL gene| |
|
| 7 | 15 | | |1 |high-confidence DLBCL gene | |
| 8 | 16 | | |2 |relevance in FL not firmly established| |
| 9 | 17 | |
| ... | ... | @@ -50,3 +58,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/M |
| 50 | 58 | <!-- ORIGIN: yanBCRTLRSignaling2012a --> |
| 51 | 59 | <!-- DLBCL: ngoOncogenicallyActiveMYD882011a --> |
| 52 | 60 | <!-- MZL: yanBCRTLRSignaling2012a --> |
| 61 | +## References |
|
| 62 | +1. Ngo VN, Young RM, Schmitz R, Jhavar S, Xiao W, Lim KH, Kohlhammer H, Xu W, Yang Y, Zhao H, Shaffer AL, Romesser P, Wright G, Powell J, Rosenwald A, Muller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Staudt LM. Oncogenically active MYD88 mutations in human lymphoma. Nature. 2011 Feb 3;470(7332):115–119. PMCID: PMC5024568 |
|
| 63 | +2. Yan Q, Huang Y, Watkins AJ, Kocialkowski S, Zeng N, Hamoudi RA, Isaacson PG, de Leval L, Wotherspoon A, Du MQ. BCR and TLR signaling pathways are recurrently targeted by genetic changes in splenic marginal zone lymphomas. Haematologica. 2012 Apr;97(4):595–598. PMCID: PMC3347666 |
MYOM2.md
| ... | ... | @@ -1,7 +1,13 @@ |
| 1 | 1 | # MYOM2 |
| 2 | 2 | ## Overview |
| 3 | 3 | The prevalence of MYOM2 mutations in DLBCL varies across studies. The role of these mutations in lymphomagenesis has not been thoroughly explored. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2011-07-31 : Pasqualucci : DLBCL |
|
| 10 | +``` |
|
| 5 | 11 | ## Relevance tier by entity |
| 6 | 12 | |
| 7 | 13 | |Entity|Tier|Description | |
| ... | ... | @@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/M |
| 39 | 45 |  |
| 40 | 46 | <!-- ORIGIN: pasqualucciAnalysisCodingGenome2011 --> |
| 41 | 47 | <!-- DLBCL: pasqualucciAnalysisCodingGenome2011 --> |
| 48 | +## References |
|
| 49 | +1. Pasqualucci L, Trifonov V, Fabbri G, Ma J, Rossi D, Chiarenza A, Wells VA, Grunn A, Messina M, Elliot O, Chan J, Bhagat G, Chadburn A, Gaidano G, Mullighan CG, Rabadan R, Dalla-Favera R. Analysis of the coding genome of diffuse large B-cell lymphoma. Nat Genet. 2011 Jul 31;43(9):830–837. PMCID: PMC3297422 |
NCOR1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # NCOR1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 39 | 45 |  |
| 40 | 46 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 41 | 47 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 48 | +## References |
|
| 49 | +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. |
NCOR2.md
| ... | ... | @@ -1,7 +1,15 @@ |
| 1 | 1 | # NCOR2 |
| 2 | 2 | ## Overview |
| 3 | 3 | Mutations in this gene are relatively rare in DLBCL overall but show a pattern of inactivation. *Without further support, this gene may be migrated to Tier 2.* |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2012-10-04 : Schmitz : BL |
|
| 10 | + 2016-09-08 : Spina : MZL |
|
| 11 | + 2021-04-01 : Sarkozy : PMBL |
|
| 12 | +``` |
|
| 5 | 13 | ## Relevance tier by entity |
| 6 | 14 | |
| 7 | 15 | |Entity|Tier|Description | |
| ... | ... | @@ -57,3 +65,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 57 | 65 | <!-- MZL: spinaGeneticsNodalMarginal2016b --> |
| 58 | 66 | <!-- BL: schmitzBurkittLymphomaPathogenesis2012 --> |
| 59 | 67 | <!-- BL: schmitzBurkittLymphomaPathogenesis2012 --> |
| 68 | +## References |
|
| 69 | +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 |
|
| 70 | +2. Spina V, Khiabanian H, Messina M, Monti S, Cascione L, Bruscaggin A, Spaccarotella E, Holmes AB, Arcaini L, Lucioni M, Tabbò F, Zairis S, Diop F, Cerri M, Chiaretti S, Marasca R, Ponzoni M, Deaglio S, Ramponi A, Tiacci E, Pasqualucci L, Paulli M, Falini B, Inghirami G, Bertoni F, Foà R, Rabadan R, Gaidano G, Rossi D. The genetics of nodal marginal zone lymphoma. Blood. 2016 Sep 8;128(10):1362–1373. |
|
| 71 | +3. Sarkozy C, Hung SS, Chavez EA, Duns G, Takata K, Chong LC, Aoki T, Jiang A, Miyata-Takata T, Telenius A, Slack GW, Molina TJ, Ben-Neriah S, Farinha P, Dartigues P, Damotte D, Mottok A, Salles GA, Casasnovas RO, Savage KJ, Laurent C, Scott DW, Traverse-Glehen A, Steidl C. Mutational landscape of gray zone lymphoma. Blood. 2021 Apr 1;137(13):1765–1776. PMID: 32961552 |
NEAT1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # NEAT1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2018-10-01 : Arthur : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -37,3 +43,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 37 | 43 |  |
| 38 | 44 | <!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 --> |
| 39 | 45 | <!-- DLBCL: arthurGenomewideDiscoverySomatic2018 --> |
| 46 | +## References |
|
| 47 | +1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379 |
NF1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # NF1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 39 | 45 |  |
| 40 | 46 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 41 | 47 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 48 | +## References |
|
| 49 | +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. |
NFKB2.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # NFKB2 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | + 2019-09-05 : Mottok : PMBL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -41,3 +48,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 41 | 48 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 42 | 49 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 43 | 50 | <!-- PMBL: mottokIntegrativeGenomicAnalysis2019b --> |
| 51 | +## References |
|
| 52 | +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. |
|
| 53 | +2. Mottok A, Hung SS, Chavez EA, Woolcock B, Telenius A, Chong LC, Meissner B, Nakamura H, Rushton C, Viganò E, Sarkozy C, Gascoyne RD, Connors JM, Ben-Neriah S, Mungall A, Marra MA, Siebert R, Scott DW, Savage KJ, Steidl C. Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma. Blood. 2019 Sep 5;134(10):802–813. PMID: 31292115 |
NFKBIA.md
| ... | ... | @@ -1,7 +1,15 @@ |
| 1 | 1 | # NFKBIA |
| 2 | 2 | ## Overview |
| 3 | 3 | NFKBIA encodes IκBα, an inhibitor of NF-κB, which regulates the NF-κB signaling pathway by preventing the translocation of NF-κB to the nucleus. Mutations in NFKBIA can disrupt this regulation, leading to constitutive activation of NF-κB signaling, which has an important role in a subset of DLBCLs. Mutations and deletions in NFKBIA are observed in DLBCL and are associated with constitutive activation of the NF-κB pathway. These mutations often occur in the ABC subtype and are associated with the **ST2** genetic subgroup of DLBCL.<sup>1</sup> |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2009-09-15 : Lake : DLBCL |
|
| 10 | + 2019-12-10 : Wienand : PMBL |
|
| 11 | + 2023-07-26 : Russler-Germain : FL |
|
| 12 | +``` |
|
| 5 | 13 | ## Relevance tier by entity |
| 6 | 14 | |
| 7 | 15 | |Entity|Tier|Description | |
| ... | ... | @@ -44,9 +52,13 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 44 | 52 | ## NFKBIA Expression |
| 45 | 53 |  |
| 46 | 54 | |
| 47 | -## References |
|
| 48 | -1. *Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020 Apr 13;37(4):551-568.e14. doi: 10.1016/j.ccell.2020.03.015. PMID: 32289277; PMCID: PMC8459709.* |
|
| 55 | + |
|
| 49 | 56 | <!-- ORIGIN: lakeMutationsNFKBIAEncoding2009 --> |
| 50 | 57 | <!-- DLBCL: lakeMutationsNFKBIAEncoding2009 --> |
| 51 | 58 | <!-- FL: russler-germainMutationsAssociatedProgression2023a --> |
| 52 | 59 | <!-- PMBL: wienandGenomicAnalysesFlowsorted2019b --> |
| 60 | +## References |
|
| 61 | +1. Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020 Apr 13;37(4):551-568.e14. doi: 10.1016/j.ccell.2020.03.015. PMID: 32289277; PMCID: PMC8459709. |
|
| 62 | +2. Lake A, Shield LA, Cordano P, Chui DTY, Osborne J, Crae S, Wilson KS, Tosi S, Knight SJL, Gesk S, Siebert R, Hay RT, Jarrett RF. Mutations of NFKBIA, encoding IkappaB alpha, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non-EBV-associated cases. Int J Cancer. 2009 Sep 15;125(6):1334–1342. PMID: 19507254 |
|
| 63 | +3. Wienand K, Chapuy B, Stewart C, Dunford AJ, Wu D, Kim J, Kamburov A, Wood TR, Cader FZ, Ducar MD, Thorner AR, Nag A, Heubeck AT, Buonopane MJ, Redd RA, Bojarczuk K, Lawton LN, Armand P, Rodig SJ, Fromm JR, Getz G, Shipp MA. Genomic analyses of flow-sorted Hodgkin Reed-Sternberg cells reveal complementary mechanisms of immune evasion. Blood Adv. 2019 Dec 10;3(23):4065–4080. PMCID: PMC6963251 |
|
| 64 | +4. Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539. |
NFKBIZ.md
| ... | ... | @@ -1,7 +1,13 @@ |
| 1 | 1 | # NFKBIZ |
| 2 | 2 | ## Overview |
| 3 | 3 | The NFKBIZ gene is a significant player in NF-κB signaling, with mutations leading to its deregulation. This pathway is critical in the pathogenesis of ABC DLBCL. NFKBIZ is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The predominant cluster of mutations in NFKBIZ is in the 3' UTR and not a consequence of aSHM. NFKBIZ 3' UTR mutations confer a selective growth advantage in DLBCL cells by stabilizing NFKBIZ mRNA, resulting in increased protein levels.<sup>1</sup> |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2016-05-01 : Morin : DLBCL |
|
| 10 | +``` |
|
| 5 | 11 | ## Relevance tier by entity |
| 6 | 12 | |
| 7 | 13 | |Entity|Tier|Description | |
P2RX5.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # P2RX5 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2013-08-15 : Morin : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -44,3 +50,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 44 | 50 |  |
| 45 | 51 | <!-- ORIGIN: morinMutationalStructuralAnalysis2013 --> |
| 46 | 52 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 53 | +## References |
|
| 54 | +1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992 |
PAPOLG.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # PAPOLG |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2018-04-12 : Schmitz : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 39 | 45 |  |
| 40 | 46 | <!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a --> |
| 41 | 47 | <!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a --> |
| 48 | +## References |
|
| 49 | +1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183 |
PASK.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # PASK |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2013-08-15 : Morin : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 39 | 45 |  |
| 40 | 46 | <!-- ORIGIN: morinMutationalStructuralAnalysis2013 --> |
| 41 | 47 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 48 | +## References |
|
| 49 | +1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992 |
PAX5.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # PAX5 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2001-07-19 : Pasqualucci : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -48,3 +54,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 48 | 54 |  |
| 49 | 55 | <!-- ORIGIN: pasqualucciHypermutationMultipleProtooncogenes2001a --> |
| 50 | 56 | <!-- DLBCL: pasqualucciHypermutationMultipleProtooncogenes2001a --> |
| 57 | +## References |
|
| 58 | +1. Pasqualucci L, Neumeister P, Goossens T, Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R. Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature. 2001 Jul 19;412(6844):341–346. PMID: 11460166 |
PC.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # PC |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-12-01 : Love : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 38 | 44 |  |
| 39 | 45 | <!-- ORIGIN: loveGeneticLandscapeMutations2012 --> |
| 40 | 46 | <!-- BL: loveGeneticLandscapeMutations2012 --> |
| 47 | +## References |
|
| 48 | +1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561 |
PIK3CD.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # PIK3CD |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -45,3 +51,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 45 | 51 |  |
| 46 | 52 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 47 | 53 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 54 | +## References |
|
| 55 | +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. |
PIK3R1.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # PIK3R1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2013-01-01 : Zhang : DLBCL |
|
| 8 | + 2019-09-26 : Panea : BL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -44,3 +51,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 44 | 51 | <!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 --> |
| 45 | 52 | <!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 --> |
| 46 | 53 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 54 | +## References |
|
| 55 | +1. Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. 2013 Jan; |
|
| 56 | +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; |
PRDM1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # PRDM1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2006-02-02 : Pasqualucci : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -56,3 +62,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 56 | 62 | <!-- ORIGIN: pasqualucciInactivationPRDM1BLIMP12006 --> |
| 57 | 63 | <!-- DLBCL: pasqualucciInactivationPRDM1BLIMP12006 --> |
| 58 | 64 | <!-- BL: 2 --> |
| 65 | +## References |
|
| 66 | +1. Pasqualucci L, Compagno M, Houldsworth J, Monti S, Grunn A, Nandula SV, Aster JC, Murty VV, Shipp MA, Dalla-Favera R. Inactivation of the PRDM1/BLIMP1 gene in diffuse large B cell lymphoma. J Exp Med. 2006 Feb;203(2):311–317. |
PRKDC.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # PRKDC |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2018-04-12 : Schmitz : DLBCL |
|
| 8 | + 2021-05-05 : H : FL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -43,3 +50,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 43 | 50 | <!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a --> |
| 44 | 51 | <!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a --> |
| 45 | 52 | <!-- FL: hubschmannMutationalMechanismsShaping2021b --> |
| 53 | +## References |
|
| 54 | +1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183 |
|
| 55 | +2. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491 |
PTPN1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # PTPN1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2014-02-16 : Gunawardana : PMBL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -42,3 +48,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 42 | 48 |  |
| 43 | 49 | <!-- ORIGIN: gunawardanaRecurrentSomaticMutations2014c --> |
| 44 | 50 | <!-- PMBL: gunawardanaRecurrentSomaticMutations2014c --> |
| 51 | +## References |
|
| 52 | +1. Gunawardana J, Chan FC, Telenius A, Woolcock B, Kridel R, Tan KL, Ben-Neriah S, Mottok A, Lim RS, Boyle M, Rogic S, Rimsza LM, Guiter C, Leroy K, Gaulard P, Haioun C, Marra MA, Savage KJ, Connors JM, Shah SP, Gascoyne RD, Steidl C. Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma. Nat Genet. 2014 Apr;46(4):329–335. PMID: 24531327 |
RET.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # RET |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-12-01 : Love : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/R |
| 38 | 44 |  |
| 39 | 45 | <!-- ORIGIN: loveGeneticLandscapeMutations2012 --> |
| 40 | 46 | <!-- BL: loveGeneticLandscapeMutations2012 --> |
| 47 | +## References |
|
| 48 | +1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561 |
RFTN1.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # RFTN1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2018-10-01 : Arthur : DLBCL |
|
| 8 | + 2021-07-15 : Duns : PMBL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -47,3 +54,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/R |
| 47 | 54 | <!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 --> |
| 48 | 55 | <!-- PMBL: dunsCharacterizationDLBCLPMBL2021b --> |
| 49 | 56 | <!-- DLBCL: arthurGenomewideDiscoverySomatic2018 --> |
| 57 | +## References |
|
| 58 | +1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379 |
|
| 59 | +2. Duns G, Viganò E, Ennishi D, Sarkozy C, Hung SS, Chavez E, Takata K, Rushton C, Jiang A, Ben-Neriah S, Woolcock BW, Slack GW, Hsi ED, Craig JW, Hilton LK, Shah SP, Farinha P, Mottok A, Gascoyne RD, Morin RD, Savage KJ, Scott DW, Steidl C. Characterization of DLBCL with a PMBL gene expression signature. Blood. 2021 Jul 15;138(2):136–148. PMID: 33684939 |
ROBO2.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ROBO2 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2014-05-08 : Zhang : MCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -27,3 +33,5 @@ |
| 27 | 33 |  |
| 28 | 34 | <!-- ORIGIN: zhangGenomicLandscapeMantle2014 --> |
| 29 | 35 | <!-- MCL: zhangGenomicLandscapeMantle2014 --> |
| 36 | +## References |
|
| 37 | +1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996. |
SBF1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # SBF1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-12-01 : Love : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 38 | 44 |  |
| 39 | 45 | <!-- ORIGIN: loveGeneticLandscapeMutations2012 --> |
| 40 | 46 | <!-- BL: loveGeneticLandscapeMutations2012 --> |
| 47 | +## References |
|
| 48 | +1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561 |
SERPINA9.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # SERPINA9 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2018-10-01 : Arthur : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -44,3 +50,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 44 | 50 |  |
| 45 | 51 | <!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 --> |
| 46 | 52 | <!-- DLBCL: arthurGenomewideDiscoverySomatic2018 --> |
| 53 | +## References |
|
| 54 | +1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379 |
SETD1B.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # SETD1B |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -46,3 +52,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 46 | 52 |  |
| 47 | 53 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 48 | 54 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 55 | +## 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. |
SETD2.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # SETD2 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2013-01-01 : Zhang : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -36,3 +42,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 36 | 42 |  |
| 37 | 43 | <!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 --> |
| 38 | 44 | <!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 --> |
| 45 | +## References |
|
| 46 | +1. Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. 2013 Jan; |
SETD5.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # SETD5 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | + 2018-05-31 : Tiacci : PMBL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -44,3 +51,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 44 | 51 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 45 | 52 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 46 | 53 | <!-- PMBL: tiacciPervasiveMutationsJAKSTAT2018b --> |
| 54 | +## References |
|
| 55 | +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. |
|
| 56 | +2. Tiacci E, Ladewig E, Schiavoni G, Penson A, Fortini E, Pettirossi V, Wang Y, Rosseto A, Venanzi A, Vlasevska S, Pacini R, Piattoni S, Tabarrini A, Pucciarini A, Bigerna B, Santi A, Gianni AM, Viviani S, Cabras A, Ascani S, Crescenzi B, Mecucci C, Pasqualucci L, Rabadan R, Falini B. Pervasive mutations of JAK-STAT pathway genes in classical Hodgkin lymphoma. Blood. 2018 May 31;131(22):2454–2465. PMCID: PMC6634958 |
SF3B1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # SF3B1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-12-01 : Love : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -51,3 +57,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 51 | 57 |  |
| 52 | 58 | <!-- ORIGIN: loveGeneticLandscapeMutations2012 --> |
| 53 | 59 | <!-- BL: loveGeneticLandscapeMutations2012 --> |
| 60 | +## References |
|
| 61 | +1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561 |
SGK1.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # SGK1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2011-07-27 : Morin : FL |
|
| 8 | + 2021-07-15 : Duns : PMBL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
SMARCB1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # SMARCB1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2020-09-17 : Nadeu : MCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -36,3 +42,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 36 | 42 |  |
| 37 | 43 | <!-- ORIGIN: nadeuGenomicEpigenomicInsights2020a --> |
| 38 | 44 | <!-- MCL: nadeuGenomicEpigenomicInsights2020a --> |
| 45 | +## References |
|
| 46 | +1. Nadeu F, Martín-García D, Clot G, Díaz-Navarro A, Duran-Ferrer M, Navarro A, Vilarrasa-Blasi R, Kulis M, Royo R, Gutiérrez-Abril J, Valdés-Mas R, López C, Chapaprieta V, Puiggrós M, Castellano G, Costa D, Aymerich M, Jares P, Espinet B, Muntañola A, Ribera‐Cortada I, Siebert R, Colomer D, Torrents D, Giné E, López-Guillermo A, Küppers R, Martín-Subero J, Puente X, Beà S, Campo E. Genomic and epigenomic insights into the origin, pathogenesis and clinical behavior of mantle cell lymphoma subtypes. Blood. 2020; |
ST6GAL1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ST6GAL1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2018-10-01 : Arthur : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -44,3 +50,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 44 | 50 |  |
| 45 | 51 | <!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 --> |
| 46 | 52 | <!-- DLBCL: arthurGenomewideDiscoverySomatic2018 --> |
| 53 | +## References |
|
| 54 | +1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379 |
STAT5B.pdf
| ... | ... | Binary files /dev/null and b/STAT5B.pdf differ |
STAT6.md
| ... | ... | @@ -1,7 +1,14 @@ |
| 1 | 1 | # STAT6 |
| 2 | 2 | ## Overview |
| 3 | 3 | The STAT6 gene, which encodes a transcription factor involved in the JAK-STAT signaling pathway, plays a significant role in the pathogenesis of various lymphomas, including diffuse large B-cell lymphoma (DLBCL). Below is a summary of the common mutations in the STAT6 gene identified in DLBCL. Mutations in the DNA binding domain of STAT6 are common in PMBCL and more rare in DLBCL. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2009-08-06 : Ritz : PMBL |
|
| 10 | + 2015-01-22 : Yildiz : DLBCL |
|
| 11 | +``` |
|
| 5 | 12 | ## Relevance tier by entity |
| 6 | 13 | |
| 7 | 14 | |Entity|Tier|Description | |
TAF1.md
| ... | ... | @@ -1,9 +1,17 @@ |
| 1 | 1 | # TAF1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2013-08-15 : Morin : DLBCL |
|
| 8 | + 2016-09-08 : Spina : MZL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| 6 | 13 | |:------:|:----:|--------------------------| |
| 14 | +||2|relevance in MZL not firmly established| |
|
| 7 | 15 | | |1 |high-confidence DLBCL gene| |
| 8 | 16 | |
| 9 | 17 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -40,3 +48,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 40 | 48 | <!-- ORIGIN: morinMutationalStructuralAnalysis2013 --> |
| 41 | 49 | <!-- MZL: spinaGeneticsNodalMarginal2016b --> |
| 42 | 50 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 51 | +## References |
|
| 52 | +1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992 |
|
| 53 | +2. Spina V, Khiabanian H, Messina M, Monti S, Cascione L, Bruscaggin A, Spaccarotella E, Holmes AB, Arcaini L, Lucioni M, Tabbò F, Zairis S, Diop F, Cerri M, Chiaretti S, Marasca R, Ponzoni M, Deaglio S, Ramponi A, Tiacci E, Pasqualucci L, Paulli M, Falini B, Inghirami G, Bertoni F, Foà R, Rabadan R, Gaidano G, Rossi D. The genetics of nodal marginal zone lymphoma. Blood. 2016 Sep 8;128(10):1362–1373. |
TBL1XR1.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # TBL1XR1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-08-27 : Rossi : MZL |
|
| 8 | + 2016-03-01 : Mareschal : DLBCL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -57,3 +64,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 57 | 64 | <!-- ORIGIN: rossiCodingGenomeSplenic2012c --> |
| 58 | 65 | <!-- MZL: rossiCodingGenomeSplenic2012c --> |
| 59 | 66 | <!-- DLBCL: mareschalWholeExomeSequencing2016 --> |
| 67 | +## References |
|
| 68 | +1. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941 |
|
| 69 | +2. Mareschal S, Dubois S, Viailly PJ, Bertrand P, Bohers E, Maingonnat C, Jaïs JP, Tesson B, Ruminy P, Peyrouze P, Copie-Bergman C, Fest T, Jo Molina T, Haioun C, Salles G, Tilly H, Lecroq T, Leroy K, Jardin F. Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B-cell lymphoma. Genes Chromosomes Cancer. 2016 Mar;55(3):251–267. PMID: 26608593 |
TCF3.md
| ... | ... | @@ -1,9 +1,16 @@ |
| 1 | 1 | # TCF3 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-10-04 : Schmitz : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| 6 | 12 | |:------:|:----:|-----------------------| |
| 13 | +||1|high-confidence PMBL/cHL/GZL gene| |
|
| 7 | 14 | | |1 |high-confidence BL gene| |
| 8 | 15 | |
| 9 | 16 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -51,3 +58,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 51 | 58 |  |
| 52 | 59 | <!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 --> |
| 53 | 60 | <!-- BL: schmitzBurkittLymphomaPathogenesis2012 --> |
| 61 | +## References |
|
| 62 | +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 |
TET2.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # TET2 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-05-01 : Albuquerque : DLBCL |
|
| 8 | + 2019-09-26 : Panea : BL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -44,3 +51,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 44 | 51 | <!-- ORIGIN: 28327945 --> |
| 45 | 52 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 46 | 53 | <!-- DLBCL: albuquerqueEnhancingKnowledgeDiscovery2017a --> |
| 54 | +## References |
|
| 55 | +1. Albuquerque MA, Grande BM, Ritch EJ, Pararajalingam P, Jessa S, Krzywinski M, Grewal JK, Shah SP, Boutros PC, Morin RD. Enhancing knowledge discovery from cancer genomics data with Galaxy. Gigascience. 2017 May 1;6(5):1–13. PMCID: PMC5437943 |
|
| 56 | +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; |
TOP2A.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # TOP2A |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-10-04 : Schmitz : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 38 | 44 |  |
| 39 | 45 | <!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 --> |
| 40 | 46 | <!-- BL: schmitzBurkittLymphomaPathogenesis2012 --> |
| 47 | +## References |
|
| 48 | +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 |
TOX.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # TOX |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -45,3 +51,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 45 | 51 |  |
| 46 | 52 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 47 | 53 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 54 | +## References |
|
| 55 | +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. |
TRAF3.md
| ... | ... | @@ -1,5 +1,13 @@ |
| 1 | 1 | # TRAF3 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2011-07-31 : Pasqualucci : DLBCL |
|
| 8 | + 2011-11-03 : Rossi : MZL |
|
| 9 | + 2012-06-01 : Otto : PMBL |
|
| 10 | +``` |
|
| 3 | 11 | ## Relevance tier by entity |
| 4 | 12 | |
| 5 | 13 | |Entity|Tier|Description | |
| ... | ... | @@ -26,9 +34,6 @@ |
| 26 | 34 | |FL |No |No |0.000 |0 | |
| 27 | 35 | |
| 28 | 36 | |
| 29 | -> [!NOTE] |
|
| 30 | -> First described in DLBCL in 2011 by [Pasqualucci L](https://pubmed.ncbi.nlm.nih.gov/21804550) |
|
| 31 | - |
|
| 32 | 37 | |
| 33 | 38 | View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/TRAF3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/TRAF3_protein_hg38.html) |
| 34 | 39 | |
| ... | ... | @@ -43,3 +48,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 43 | 48 | <!-- MZL: rossiAlterationBIRC3Multiple2011a --> |
| 44 | 49 | <!-- DLBCL: pasqualucciAnalysisCodingGenome2011 --> |
| 45 | 50 | <!-- PMBL: ottoGeneticLesionsTRAF32012a --> |
| 51 | +## References |
|
| 52 | +1. Pasqualucci L, Trifonov V, Fabbri G, Ma J, Rossi D, Chiarenza A, Wells VA, Grunn A, Messina M, Elliot O, Chan J, Bhagat G, Chadburn A, Gaidano G, Mullighan CG, Rabadan R, Dalla-Favera R. Analysis of the coding genome of diffuse large B-cell lymphoma. Nat Genet. 2011 Jul 31;43(9):830–837. PMCID: PMC3297422 |
|
| 53 | +2. Rossi D, Deaglio S, Dominguez-Sola D, Rasi S, Vaisitti T, Agostinelli C, Spina V, Bruscaggin A, Monti S, Cerri M, Cresta S, Fangazio M, Arcaini L, Lucioni M, Marasca R, Thieblemont C, Capello D, Facchetti F, Kwee I, Pileri SA, Foà R, Bertoni F, Dalla-Favera R, Pasqualucci L, Gaidano G. Alteration of BIRC3 and multiple other NF-κB pathway genes in splenic marginal zone lymphoma. Blood. 2011 Nov 3;118(18):4930–4934. PMID: 21881048 |
|
| 54 | +3. Otto C, Giefing M, Massow A, Vater I, Gesk S, Schlesner M, Richter J, Klapper W, Hansmann ML, Siebert R, Küppers R. Genetic lesions of the TRAF3 and MAP3K14 genes in classical Hodgkin lymphoma. Br J Haematol. 2012 Jun;157(6):702–708. PMID: 22469134 |
TRAF6.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # TRAF6 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2021-05-05 : Hübschmann : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -24,9 +30,6 @@ |
| 24 | 30 | |FL |No |No |9.831 | 0.000 | |
| 25 | 31 | |
| 26 | 32 | |
| 27 | -> [!NOTE] |
|
| 28 | -> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289) |
|
| 29 | - |
|
| 30 | 33 | ## TRAF6 Hotspots |
| 31 | 34 | |
| 32 | 35 | | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | |
| ... | ... | @@ -47,3 +50,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 47 | 50 |  |
| 48 | 51 | <!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
| 49 | 52 | <!-- DLBCL: hubschmannMutationalMechanismsShaping2021b --> |
| 53 | +## References |
|
| 54 | +1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491 |
TRRAP.md
| ... | ... | @@ -1,9 +1,17 @@ |
| 1 | 1 | # TRRAP |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-08-27 : Rossi : MZL |
|
| 8 | + 2013-12-13 : Parry : DLBCL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| 6 | 13 | |:------:|:----:|--------------------------| |
| 14 | +||2|relevance in MZL not firmly established| |
|
| 7 | 15 | | |1 |high-confidence DLBCL gene| |
| 8 | 16 | |
| 9 | 17 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -44,3 +52,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/T |
| 44 | 52 | <!-- ORIGIN: rossiCodingGenomeSplenic2012c --> |
| 45 | 53 | <!-- DLBCL: parryWholeExomeSequencing2013 --> |
| 46 | 54 | <!-- MZL: rossiCodingGenomeSplenic2012c --> |
| 55 | +## References |
|
| 56 | +1. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941 |
|
| 57 | +2. Parry M, Rose-Zerilli MJJ, Gibson J, Ennis S, Walewska R, Forster J, Parker H, Davis Z, Gardiner A, Collins A, Oscier DG, Strefford JC. Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma. PLoS One. 2013;8(12):e83244. PMCID: PMC3862727 |
UBE2A.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # UBE2A |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2015-02-12 : Reichel : PMBL |
|
| 8 | + 2017-10-10 : Reddy : DLBCL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +45,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/U |
| 38 | 45 | <!-- ORIGIN: reichelFlowSortingExome2015a --> |
| 39 | 46 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 40 | 47 | <!-- PMBL: reichelFlowSortingExome2015a --> |
| 48 | +## References |
|
| 49 | +1. Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072. PMID: 25488972 |
|
| 50 | +2. 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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|
| 344 | +:not(pre):not(.hljs) > code {
|
|
| 345 | + color: #C9AE75; /* Change the old color so it seems less like an error */
|
|
| 346 | + font-size: inherit;
|
|
| 347 | +}
|
|
| 348 | +
|
|
| 349 | +/* Page Break : use <div class="page"/> to insert page break
|
|
| 350 | +-------------------------------------------------------- */
|
|
| 351 | +.page {
|
|
| 352 | + page-break-after: always;
|
|
| 353 | +}
|
|
| 354 | + |
|
| 355 | +</style> |
|
| 356 | +
|
|
| 357 | +<script src="https://unpkg.com/mermaid/dist/mermaid.min.js"></script>
|
|
| 358 | +</head>
|
|
| 359 | +<body>
|
|
| 360 | + <script>
|
|
| 361 | + mermaid.initialize({
|
|
| 362 | + startOnLoad: true,
|
|
| 363 | + theme: document.body.classList.contains('vscode-dark') || document.body.classList.contains('vscode-high-contrast')
|
|
| 364 | + ? 'dark'
|
|
| 365 | + : 'default'
|
|
| 366 | + });
|
|
| 367 | + </script>
|
|
| 368 | +<h1 id="unc5c">UNC5C</h1> |
|
| 369 | +<h2 id="relevance-tier-by-entity">Relevance tier by entity</h2> |
|
| 370 | +<table> |
|
| 371 | +<thead> |
|
| 372 | +<tr> |
|
| 373 | +<th style="text-align:center">Entity</th> |
|
| 374 | +<th style="text-align:center">Tier</th> |
|
| 375 | +<th>Description</th> |
|
| 376 | +</tr> |
|
| 377 | +</thead> |
|
| 378 | +<tbody> |
|
| 379 | +<tr> |
|
| 380 | +<td style="text-align:center"><img src="file:///Users/rmorin/git/LLMPP.wiki/images/icons/PMBL_tier1.png" alt="PMBL"></td> |
|
| 381 | +<td style="text-align:center">1</td> |
|
| 382 | +<td>high-confidence PMBL/cHL/GZL gene</td> |
|
| 383 | +</tr> |
|
| 384 | +<tr> |
|
| 385 | +<td style="text-align:center"><img src="file:///Users/rmorin/git/LLMPP.wiki/images/icons/DLBCL_tier1.png" alt="DLBCL"></td> |
|
| 386 | +<td style="text-align:center">1</td> |
|
| 387 | +<td>high-confidence DLBCL gene</td> |
|
| 388 | +</tr> |
|
| 389 | +</tbody> |
|
| 390 | +</table> |
|
| 391 | +<h2 id="mutation-incidence-in-large-patient-cohorts-gambl-reanalysis">Mutation incidence in large patient cohorts (GAMBL reanalysis)</h2> |
|
| 392 | +<table> |
|
| 393 | +<thead> |
|
| 394 | +<tr> |
|
| 395 | +<th style="text-align:center">Entity</th> |
|
| 396 | +<th style="text-align:center">source</th> |
|
| 397 | +<th style="text-align:center">frequency (%)</th> |
|
| 398 | +</tr> |
|
| 399 | +</thead> |
|
| 400 | +<tbody> |
|
| 401 | +<tr> |
|
| 402 | +<td style="text-align:center">DLBCL</td> |
|
| 403 | +<td style="text-align:center">GAMBL genomes</td> |
|
| 404 | +<td style="text-align:center">3.44</td> |
|
| 405 | +</tr> |
|
| 406 | +<tr> |
|
| 407 | +<td style="text-align:center">DLBCL</td> |
|
| 408 | +<td style="text-align:center">Schmitz cohort</td> |
|
| 409 | +<td style="text-align:center">5.11</td> |
|
| 410 | +</tr> |
|
| 411 | +<tr> |
|
| 412 | +<td style="text-align:center">DLBCL</td> |
|
| 413 | +<td style="text-align:center">Reddy cohort</td> |
|
| 414 | +<td style="text-align:center">2.20</td> |
|
| 415 | +</tr> |
|
| 416 | +<tr> |
|
| 417 | +<td style="text-align:center">DLBCL</td> |
|
| 418 | +<td style="text-align:center">Chapuy cohort</td> |
|
| 419 | +<td style="text-align:center">2.56</td> |
|
| 420 | +</tr> |
|
| 421 | +</tbody> |
|
| 422 | +</table> |
|
| 423 | +<h2 id="mutation-pattern-and-selective-pressure-estimates">Mutation pattern and selective pressure estimates</h2> |
|
| 424 | +<table> |
|
| 425 | +<thead> |
|
| 426 | +<tr> |
|
| 427 | +<th style="text-align:center">Entity</th> |
|
| 428 | +<th style="text-align:center">aSHM</th> |
|
| 429 | +<th style="text-align:center">Significant selection</th> |
|
| 430 | +<th style="text-align:center">dN/dS (missense)</th> |
|
| 431 | +<th style="text-align:center">dN/dS (nonsense)</th> |
|
| 432 | +</tr> |
|
| 433 | +</thead> |
|
| 434 | +<tbody> |
|
| 435 | +<tr> |
|
| 436 | +<td style="text-align:center">BL</td> |
|
| 437 | +<td style="text-align:center">No</td> |
|
| 438 | +<td style="text-align:center">No</td> |
|
| 439 | +<td style="text-align:center">3.406</td> |
|
| 440 | +<td style="text-align:center">0</td> |
|
| 441 | +</tr> |
|
| 442 | +<tr> |
|
| 443 | +<td style="text-align:center">DLBCL</td> |
|
| 444 | +<td style="text-align:center">No</td> |
|
| 445 | +<td style="text-align:center">No</td> |
|
| 446 | +<td style="text-align:center">1.948</td> |
|
| 447 | +<td style="text-align:center">0</td> |
|
| 448 | +</tr> |
|
| 449 | +<tr> |
|
| 450 | +<td style="text-align:center">FL</td> |
|
| 451 | +<td style="text-align:center">No</td> |
|
| 452 | +<td style="text-align:center">No</td> |
|
| 453 | +<td style="text-align:center">1.266</td> |
|
| 454 | +<td style="text-align:center">0</td> |
|
| 455 | +</tr> |
|
| 456 | +</tbody> |
|
| 457 | +</table> |
|
| 458 | +<p>View coding variants in ProteinPaint <a href="https://morinlab.github.io/LLMPP/GAMBL/UNC5C_protein.html">hg19</a> or <a href="https://morinlab.github.io/LLMPP/GAMBL/UNC5C_protein_hg38.html">hg38</a></p> |
|
| 459 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/proteinpaint/UNC5C_NM_003728.svg" alt="image"></p> |
|
| 460 | +<p>View all variants in GenomePaint <a href="https://morinlab.github.io/LLMPP/GAMBL/UNC5C.html">hg19</a> or <a href="https://morinlab.github.io/LLMPP/GAMBL/UNC5C_hg38.html">hg38</a></p> |
|
| 461 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/proteinpaint/UNC5C.svg" alt="image"></p> |
|
| 462 | +<h2 id="unc5c-expression">UNC5C Expression</h2> |
|
| 463 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/gene_expression/UNC5C_by_pathology.svg" alt="image"></p> |
|
| 464 | +<!-- ORIGIN: Unknown --> |
|
| 465 | +
|
|
| 466 | +</body>
|
|
| 467 | +</html>
|
VWA7.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # VWA7 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2022-07-06 : Burkhardt : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/V |
| 38 | 44 |  |
| 39 | 45 | <!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b --> |
| 40 | 46 | <!-- BL: burkhardtClinicalRelevanceMolecular2022b --> |
| 47 | +## References |
|
| 48 | +1. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584 |
WAC.md
| ... | ... | @@ -1,9 +1,17 @@ |
| 1 | 1 | # WAC |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-08-27 : Rossi : MZL |
|
| 8 | + 2017-10-10 : Reddy : DLBCL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| 6 | 13 | |:------:|:----:|-----------------------------------------| |
| 14 | +||2|relevance in MZL not firmly established| |
|
| 7 | 15 | | |2 |relevance in DLBCL not firmly established| |
| 8 | 16 | |
| 9 | 17 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -40,3 +48,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/W |
| 40 | 48 | <!-- ORIGIN: rossiCodingGenomeSplenic2012c --> |
| 41 | 49 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 42 | 50 | <!-- MZL: rossiCodingGenomeSplenic2012c --> |
| 51 | +## References |
|
| 52 | +1. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941 |
|
| 53 | +2. 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. |
WEE1.md
| ... | ... | @@ -1,7 +1,14 @@ |
| 1 | 1 | # WEE1 |
| 2 | 2 | ## Overview |
| 3 | 3 | WEE1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2015-02-12 : Reichel : PMBL |
|
| 10 | + 2018-04-12 : Schmitz : DLBCL |
|
| 11 | +``` |
|
| 5 | 12 | ## Relevance tier by entity |
| 6 | 13 | |
| 7 | 14 | |Entity|Tier|Description | |
WNK2.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # WNK2 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2019-09-26 : Panea : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -44,3 +50,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/W |
| 44 | 50 |  |
| 45 | 51 | <!-- ORIGIN: paneaWholeGenomeLandscape2019 --> |
| 46 | 52 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 53 | +## References |
|
| 54 | +1. 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; |
XPO1.md
| ... | ... | @@ -1,9 +1,17 @@ |
| 1 | 1 | # XPO1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2016-03-01 : Mareschal : DLBCL |
|
| 8 | + 2016-06-01 : Jardin : PMBL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| 6 | 13 | |:------:|:----:|--------------------------| |
| 14 | +||1|high-confidence PMBL/cHL/GZL gene| |
|
| 7 | 15 | | |1 |high-confidence DLBCL gene| |
| 8 | 16 | |
| 9 | 17 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -47,3 +55,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/X |
| 47 | 55 | <!-- ORIGIN: mareschalWholeExomeSequencing2016 --> |
| 48 | 56 | <!-- DLBCL: mareschalWholeExomeSequencing2016 --> |
| 49 | 57 | <!-- PMBL: jardinRecurrentMutationsExportin2016a --> |
| 58 | +## References |
|
| 59 | +1. Mareschal S, Dubois S, Viailly PJ, Bertrand P, Bohers E, Maingonnat C, Jaïs JP, Tesson B, Ruminy P, Peyrouze P, Copie-Bergman C, Fest T, Jo Molina T, Haioun C, Salles G, Tilly H, Lecroq T, Leroy K, Jardin F. Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B-cell lymphoma. Genes Chromosomes Cancer. 2016 Mar;55(3):251–267. PMID: 26608593 |
|
| 60 | +2. Jardin F, Pujals A, Pelletier L, Bohers E, Camus V, Mareschal S, Dubois S, Sola B, Ochmann M, Lemonnier F, Viailly PJ, Bertrand P, Maingonnat C, Traverse-Glehen A, Gaulard P, Damotte D, Delarue R, Haioun C, Argueta C, Landesman Y, Salles G, Jais JP, Figeac M, Copie-Bergman C, Molina TJ, Picquenot JM, Cornic M, Fest T, Milpied N, Lemasle E, Stamatoullas A, Moeller P, Dyer MJS, Sundstrom C, Bastard C, Tilly H, Leroy K. Recurrent mutations of the exportin 1 gene (XPO1) and their impact on selective inhibitor of nuclear export compounds sensitivity in primary mediastinal B-cell lymphoma. Am J Hematol. 2016 Sep;91(9):923–930. PMID: 27312795 |
YY1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # YY1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -41,3 +47,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Y |
| 41 | 47 |  |
| 42 | 48 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 43 | 49 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 50 | +## References |
|
| 51 | +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. |
YY1AP1.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # YY1AP1 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-10-04 : Schmitz : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Y |
| 38 | 44 |  |
| 39 | 45 | <!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 --> |
| 40 | 46 | <!-- BL: schmitzBurkittLymphomaPathogenesis2012 --> |
| 47 | +## References |
|
| 48 | +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 |
ZAN.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ZAN |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2022-07-06 : Burkhardt : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -34,3 +40,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Z |
| 34 | 40 |  |
| 35 | 41 | <!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b --> |
| 36 | 42 | <!-- BL: burkhardtClinicalRelevanceMolecular2022b --> |
| 43 | +## References |
|
| 44 | +1. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584 |
ZBTB7A.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # ZBTB7A |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | + 2022-07-06 : Burkhardt : BL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -44,3 +51,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Z |
| 44 | 51 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 45 | 52 | <!-- BL: burkhardtClinicalRelevanceMolecular2022b --> |
| 46 | 53 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 54 | +## References |
|
| 55 | +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. |
|
| 56 | +2. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584 |
ZC3H12A.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ZC3H12A |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
ZC3H12A.pdf
| ... | ... | Binary files /dev/null and b/ZC3H12A.pdf differ |
ZCCHC7.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ZCCHC7 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2018-10-01 : Arthur : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -47,3 +53,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Z |
| 47 | 53 |  |
| 48 | 54 | <!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 --> |
| 49 | 55 | <!-- DLBCL: arthurGenomewideDiscoverySomatic2018 --> |
| 56 | +## References |
|
| 57 | +1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379 |
ZFAT.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ZFAT |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Z |
| 39 | 45 |  |
| 40 | 46 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 41 | 47 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 48 | +## References |
|
| 49 | +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. |
ZFP36L1.md
| ... | ... | @@ -1,7 +1,15 @@ |
| 1 | 1 | # ZFP36L1 |
| 2 | 2 | ## Overview |
| 3 | 3 | ZFP36L1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2011-07-27 : Morin : DLBCL |
|
| 10 | + 2015-02-12 : Reichel : PMBL |
|
| 11 | + 2019-09-26 : Panea : BL |
|
| 12 | +``` |
|
| 5 | 13 | ## Relevance tier by entity |
| 6 | 14 | |
| 7 | 15 | |Entity|Tier|Description | |
ZFX.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ZFX |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-10-10 : Reddy : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -42,3 +48,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Z |
| 42 | 48 |  |
| 43 | 49 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 44 | 50 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 51 | +## References |
|
| 52 | +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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| 312 | + padding: 0 12px;
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| 313 | +}
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| 314 | +
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| 315 | +pre {
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| 316 | + background-color: #f8f8f8;
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| 317 | + border: 1px solid #cccccc;
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| 318 | + border-radius: 3px;
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| 319 | + overflow-x: auto;
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| 320 | + white-space: pre-wrap;
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| 321 | + overflow-wrap: break-word;
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| 322 | +}
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| 323 | +
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| 324 | +pre:not(.hljs) {
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| 325 | + padding: 23px;
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| 326 | + line-height: 19px;
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| 327 | +}
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| 328 | +
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| 329 | +blockquote {
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| 330 | + background: rgba(127, 127, 127, 0.1);
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| 331 | + border-color: rgba(0, 122, 204, 0.5);
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| 332 | +}
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| 333 | +
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| 334 | +.emoji {
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| 344 | +:not(pre):not(.hljs) > code {
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| 345 | + color: #C9AE75; /* Change the old color so it seems less like an error */
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| 346 | + font-size: inherit;
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| 347 | +}
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| 348 | +
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| 349 | +/* Page Break : use <div class="page"/> to insert page break
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| 350 | +-------------------------------------------------------- */
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| 351 | +.page {
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| 352 | + page-break-after: always;
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| 353 | +}
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| 354 | + |
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| 355 | +</style> |
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| 356 | +
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| 357 | +<script src="https://unpkg.com/mermaid/dist/mermaid.min.js"></script>
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| 358 | +</head>
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| 359 | +<body>
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| 360 | + <script>
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| 361 | + mermaid.initialize({
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| 362 | + startOnLoad: true,
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| 363 | + theme: document.body.classList.contains('vscode-dark') || document.body.classList.contains('vscode-high-contrast')
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| 364 | + ? 'dark'
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| 365 | + : 'default'
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| 366 | + });
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| 367 | + </script>
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| 368 | +<h1 id="zfx">ZFX</h1> |
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| 369 | +<h2 id="history">History</h2> |
|
| 370 | +<pre><code class="language-mermaid"><div class="mermaid">%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
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| 371 | +timeline |
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| 372 | + title Publication timing |
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| 373 | + 2017-10-10 : Reddy : DLBCL |
|
| 374 | +</div></code></pre> |
|
| 375 | +<h2 id="relevance-tier-by-entity">Relevance tier by entity</h2> |
|
| 376 | +<table> |
|
| 377 | +<thead> |
|
| 378 | +<tr> |
|
| 379 | +<th style="text-align:center">Entity</th> |
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| 380 | +<th style="text-align:center">Tier</th> |
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| 381 | +<th>Description</th> |
|
| 382 | +</tr> |
|
| 383 | +</thead> |
|
| 384 | +<tbody> |
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| 385 | +<tr> |
|
| 386 | +<td style="text-align:center"><img src="file:///Users/rmorin/git/LLMPP.wiki/images/icons/DLBCL_tier2.png" alt="DLBCL"></td> |
|
| 387 | +<td style="text-align:center">2</td> |
|
| 388 | +<td>relevance in DLBCL not firmly established</td> |
|
| 389 | +</tr> |
|
| 390 | +</tbody> |
|
| 391 | +</table> |
|
| 392 | +<h2 id="mutation-incidence-in-large-patient-cohorts-gambl-reanalysis">Mutation incidence in large patient cohorts (GAMBL reanalysis)</h2> |
|
| 393 | +<table> |
|
| 394 | +<thead> |
|
| 395 | +<tr> |
|
| 396 | +<th style="text-align:center">Entity</th> |
|
| 397 | +<th style="text-align:center">source</th> |
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| 398 | +<th style="text-align:center">frequency (%)</th> |
|
| 399 | +</tr> |
|
| 400 | +</thead> |
|
| 401 | +<tbody> |
|
| 402 | +<tr> |
|
| 403 | +<td style="text-align:center">DLBCL</td> |
|
| 404 | +<td style="text-align:center">GAMBL genomes</td> |
|
| 405 | +<td style="text-align:center">0.38</td> |
|
| 406 | +</tr> |
|
| 407 | +<tr> |
|
| 408 | +<td style="text-align:center">DLBCL</td> |
|
| 409 | +<td style="text-align:center">Schmitz cohort</td> |
|
| 410 | +<td style="text-align:center">1.70</td> |
|
| 411 | +</tr> |
|
| 412 | +<tr> |
|
| 413 | +<td style="text-align:center">DLBCL</td> |
|
| 414 | +<td style="text-align:center">Reddy cohort</td> |
|
| 415 | +<td style="text-align:center">1.40</td> |
|
| 416 | +</tr> |
|
| 417 | +<tr> |
|
| 418 | +<td style="text-align:center">DLBCL</td> |
|
| 419 | +<td style="text-align:center">Chapuy cohort</td> |
|
| 420 | +<td style="text-align:center">0.43</td> |
|
| 421 | +</tr> |
|
| 422 | +</tbody> |
|
| 423 | +</table> |
|
| 424 | +<h2 id="mutation-pattern-and-selective-pressure-estimates">Mutation pattern and selective pressure estimates</h2> |
|
| 425 | +<table> |
|
| 426 | +<thead> |
|
| 427 | +<tr> |
|
| 428 | +<th style="text-align:center">Entity</th> |
|
| 429 | +<th style="text-align:center">aSHM</th> |
|
| 430 | +<th style="text-align:center">Significant selection</th> |
|
| 431 | +<th style="text-align:center">dN/dS (missense)</th> |
|
| 432 | +<th style="text-align:center">dN/dS (nonsense)</th> |
|
| 433 | +</tr> |
|
| 434 | +</thead> |
|
| 435 | +<tbody> |
|
| 436 | +<tr> |
|
| 437 | +<td style="text-align:center">BL</td> |
|
| 438 | +<td style="text-align:center">No</td> |
|
| 439 | +<td style="text-align:center">No</td> |
|
| 440 | +<td style="text-align:center">3.677</td> |
|
| 441 | +<td style="text-align:center">0</td> |
|
| 442 | +</tr> |
|
| 443 | +<tr> |
|
| 444 | +<td style="text-align:center">DLBCL</td> |
|
| 445 | +<td style="text-align:center">No</td> |
|
| 446 | +<td style="text-align:center">No</td> |
|
| 447 | +<td style="text-align:center">0.000</td> |
|
| 448 | +<td style="text-align:center">0</td> |
|
| 449 | +</tr> |
|
| 450 | +<tr> |
|
| 451 | +<td style="text-align:center">FL</td> |
|
| 452 | +<td style="text-align:center">No</td> |
|
| 453 | +<td style="text-align:center">No</td> |
|
| 454 | +<td style="text-align:center">0.000</td> |
|
| 455 | +<td style="text-align:center">0</td> |
|
| 456 | +</tr> |
|
| 457 | +</tbody> |
|
| 458 | +</table> |
|
| 459 | +<blockquote> |
|
| 460 | +<p>[!NOTE] |
|
| 461 | +First described in DLBCL in 2017 by <a href="https://pubmed.ncbi.nlm.nih.gov/28985567">Reddy A</a></p> |
|
| 462 | +</blockquote> |
|
| 463 | +<blockquote> |
|
| 464 | +<p>[!WARNING] |
|
| 465 | +Mutations in this gene were reported to be inflated in the original results according to <a href="https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1">Dreval K</a></p> |
|
| 466 | +</blockquote> |
|
| 467 | +<p>View coding variants in ProteinPaint <a href="https://morinlab.github.io/LLMPP/GAMBL/ZFX_protein.html">hg19</a> or <a href="https://morinlab.github.io/LLMPP/GAMBL/ZFX_protein_hg38.html">hg38</a></p> |
|
| 468 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/proteinpaint/ZFX_NM_003410.svg" alt="image"></p> |
|
| 469 | +<p>View all variants in GenomePaint <a href="https://morinlab.github.io/LLMPP/GAMBL/ZFX.html">hg19</a> or <a href="https://morinlab.github.io/LLMPP/GAMBL/ZFX_hg38.html">hg38</a></p> |
|
| 470 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/proteinpaint/ZFX.svg" alt="image"></p> |
|
| 471 | +<h2 id="zfx-expression">ZFX Expression</h2> |
|
| 472 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/gene_expression/ZFX_by_pathology.svg" alt="image"></p> |
|
| 473 | +<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
|
| 474 | +<!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
|
| 475 | +<h2 id="references">References</h2> |
|
| 476 | +<ol> |
|
| 477 | +<li>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.</li> |
|
| 478 | +</ol> |
|
| 479 | +
|
|
| 480 | +</body>
|
|
| 481 | +</html>
|
ZNF292.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ZNF292 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2013-01-01 : Zhang : DLBCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Z |
| 39 | 45 |  |
| 40 | 46 | <!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 --> |
| 41 | 47 | <!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 --> |
| 48 | +## References |
|
| 49 | +1. Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. 2013 Jan; |
ZNF296.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ZNF296 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2014-05-08 : Zhang : MCL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -36,3 +42,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Z |
| 36 | 42 |  |
| 37 | 43 | <!-- ORIGIN: zhangGenomicLandscapeMantle2014 --> |
| 38 | 44 | <!-- MCL: zhangGenomicLandscapeMantle2014 --> |
| 45 | +## References |
|
| 46 | +1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996. |
ZNF608.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # ZNF608 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2013-01-01 : Zhang : DLBCL |
|
| 8 | + 2017-01-26 : Krysiak : FL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
ZNF85.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # ZNF85 |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2022-07-06 : Burkhardt : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/Z |
| 38 | 44 |  |
| 39 | 45 | <!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b --> |
| 40 | 46 | <!-- BL: burkhardtClinicalRelevanceMolecular2022b --> |
| 47 | +## References |
|
| 48 | +1. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584 |