f56c5196dd011ffa927cb929210bf076697e1cd8
CDH17.md
| ... | ... | @@ -1,4 +1,10 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CDH17 |
| 7 | + |
|
| 2 | 8 | ## Overview |
| 3 | 9 | |
| 4 | 10 | Due to [minimal support](CDH17#representative-mutations) in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL. |
| ... | ... | @@ -16,7 +22,7 @@ timeline |
| 16 | 22 | |
| 17 | 23 | |Entity|Tier|Description | |
| 18 | 24 | |:------:|:----:|--------------------------------------| |
| 19 | -| |2 |relevance in BL not firmly established| |
|
| 25 | +| |2 |relevance in BL not firmly established[@loveGeneticLandscapeMutations2012]| |
|
| 20 | 26 | |
| 21 | 27 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 28 | |
| ... | ... | @@ -62,4 +68,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 62 | 68 | [322](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/322_reports.html) |
| 63 | 69 | |
| 64 | 70 | ## References |
| 65 | -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 |
CDKN2A.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CDKN2A |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| ... | ... | @@ -21,9 +26,9 @@ timeline |
| 21 | 26 | |Entity|Tier|Description | |
| 22 | 27 | |:------:|:----:|--------------------------------------| |
| 23 | 28 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 24 | -||2|relevance in MZL not firmly established| |
|
| 25 | -| |1 |high-confidence DLBCL gene | |
|
| 26 | -| |2 |relevance in BL not firmly established| |
|
| 29 | +||2|relevance in MZL not firmly established[@spinaGeneticsNodalMarginal2016b]| |
|
| 30 | +| |1 |high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013]| |
|
| 31 | +| |2 |relevance in BL not firmly established[@grandeGenomewideDiscoverySomatic2019]| |
|
| 27 | 32 | |
| 28 | 33 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 29 | 34 | |
| ... | ... | @@ -67,11 +72,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 67 | 72 |  |
| 68 | 73 | |
| 69 | 74 | ## References |
| 70 | -1. *Guney S, Jardin F, Bertrand P, Mareschal S, Parmentier F, Picquenot JM, Tilly H, Bastard C. Several mechanisms lead to the inactivation of the CDKN2A (P16), P14ARF, or CDKN2B (P15) genes in the GCB and ABC molecular DLBCL subtypes. Genes Chromosomes Cancer. 2012 Sep;51(9):858-67. doi: 10.1002/gcc.21970. Epub 2012 May 23. PMID: 22619049.* |
|
| 71 | 75 | |
| 72 | -2. *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* |
|
| 73 | - |
|
| 74 | -3. *Grande BM, Gerhard DS, Jiang A, Griner NB, Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K, Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA, Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL, He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE, Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG, Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J, Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH, Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood. 2019 Mar 21;133(12):1313–1324.* |
|
| 75 | 76 | |
| 76 | 77 | |
| 77 | 78 | <!-- ORIGIN: 23699601 --> |
CDKN2C.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CDKN2C |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|--------------------------------------| |
| 15 | -| |2 |relevance in BL not firmly established| |
|
| 20 | +| |2 |relevance in BL not firmly established[@thomasGeneticSubgroupsInform2023]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -47,4 +52,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 47 | 52 | <!-- BL: thomasGeneticSubgroupsInform2023 --> |
| 48 | 53 | |
| 49 | 54 | ## References |
| 50 | -1. Thomas N, Dreval K, Gerhard DS, Hilton LK, Abramson JS, Ambinder RF, Barta S, Bartlett NL, Bethony J, Bhatia K, Bowen J, Bryan AC, Cesarman E, Casper C, Chadburn A, Cruz M, Dittmer DP, Dyer MA, Farinha P, Gastier-Foster JM, Gerrie AS, Grande BM, Greiner T, Griner NB, Gross TG, Harris NL, Irvin JD, Jaffe ES, Henry D, Huppi R, Leal FE, Lee MS, Martin JP, Martin MR, Mbulaiteye SM, Mitsuyasu R, Morris V, Mullighan CG, Mungall AJ, Mungall K, Mutyaba I, Nokta M, Namirembe C, Noy A, Ogwang MD, Omoding A, Orem J, Ott G, Petrello H, Pittaluga S, Phelan JD, Ramos JC, Ratner L, Reynolds SJ, Rubinstein PG, Sissolak G, Slack G, Soudi S, Swerdlow SH, Traverse-Glehen A, Wilson WH, Wong J, Yarchoan R, ZenKlusen JC, Marra MA, Staudt LM, Scott DW, Morin RD. Genetic subgroups inform on pathobiology in adult and pediatric Burkitt lymphoma. Blood. 2023 Feb 23;141(8):904–916. |
CHD1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CHD1 |
| 2 | 7 | |
| 3 | 8 | <<Warn("The variants reported in this gene in DLBCL failed QC")>> |
| ... | ... | @@ -16,7 +21,7 @@ timeline |
| 16 | 21 | |
| 17 | 22 | |Entity|Tier|Description | |
| 18 | 23 | |:------:|:----:|-----------------------------------------| |
| 19 | -| |2 |relevance in DLBCL not firmly established| |
|
| 24 | +| |2 |relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]| |
|
| 20 | 25 | |
| 21 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 27 | |
| ... | ... | @@ -48,7 +53,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 48 | 53 |  |
| 49 | 54 | |
| 50 | 55 | ## 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.* |
|
| 56 | + |
|
| 52 | 57 | |
| 53 | 58 | |
| 54 | 59 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
CHD4.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CHD4 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|--------------------------------------| |
| 15 | -| |2 |relevance in BL not firmly established| |
|
| 20 | +| |2 |relevance in BL not firmly established[@burkhardtClinicalRelevanceMolecular2022b]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -47,4 +52,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 47 | 52 | <!-- BL: burkhardtClinicalRelevanceMolecular2022b --> |
| 48 | 53 | |
| 49 | 54 | ## References |
| 50 | -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 |
CHST2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CHST2 |
| 2 | 7 | |
| 3 | 8 | <<Warn("The variants reported in this gene in DLBCL failed QC")>> |
| ... | ... | @@ -84,7 +89,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 84 | 89 | [Reddy_3998T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3998T.html) |
| 85 | 90 | |
| 86 | 91 | ## References |
| 87 | -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.* |
|
| 92 | + |
|
| 88 | 93 | |
| 89 | 94 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 90 | 95 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
CIITA.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CIITA |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| ... | ... | @@ -15,8 +20,8 @@ timeline |
| 15 | 20 | |
| 16 | 21 | |Entity|Tier|Description | |
| 17 | 22 | |:------:|:----:|--------------------------| |
| 18 | -||1|high-confidence PMBL/cHL/GZL gene| |
|
| 19 | -| |1-a | aSHM target and high-confidence DLBCL gene| |
|
| 23 | +||1|high-confidence PMBL/cHL/GZL gene[@mottokGenomicAlterationsCIITA2015b]| |
|
| 24 | +| |1-a | aSHM target and high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011]| |
|
| 20 | 25 | |
| 21 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 27 | |
| ... | ... | @@ -55,9 +60,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 55 | 60 |  |
| 56 | 61 | |
| 57 | 62 | ## References |
| 58 | -1. *Mottok, A., Woolcock, B., Chan, F., Tong, K., Chong, L., Farinha, P., Telenius, A., Chavez, E., Ramchandani, S., Drake, M., Boyle, M., Ben-Neriah, S., Scott, D., Rimsza, L., Siebert, R., Gascoyne, R., & Steidl, C. (2015). Genomic Alterations in CIITA Are Frequent in Primary Mediastinal Large B Cell Lymphoma and Are Associated with Diminished MHC Class II Expression.. Cell reports, 13 7, 1418-1431 . https://doi.org/10.1016/j.celrep.2015.10.008.* |
|
| 59 | -2. *Sarah T Wilkinson, Diane R Fernandez, Shawn P Murphy, Wing C. Chan, Randy D. Gascoyne, Elias Campo, Elaine S. Jaffe, Louis M. Staudt, Jan Delabie, Andreas Rosenwald, Lisa M Rimsza; Loss of CIITA and MHC Class II Expression in Diffuse Large B-Cell Lymphoma Is Not Explained by Methylation of CIITA Promoters III and IV.. Blood 2008; 112 (11): 1786. doi: https://doi.org/10.1182/blood.V112.11.1786.1786* |
|
| 60 | -3. *Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351. PMID: 21796119; PMCID: PMC3210554.* |
|
| 61 | 63 | |
| 62 | 64 | <!-- ORIGIN: morinFrequentMutationHistonemodifying2011 --> |
| 63 | 65 | <!-- DLBCL: morinFrequentMutationHistonemodifying2011 --> |
CILP.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CILP |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -13,7 +18,7 @@ timeline |
| 13 | 18 | |
| 14 | 19 | |Entity|Tier|Description | |
| 15 | 20 | |:------:|:----:|--------------------------------------| |
| 16 | -| |2 |relevance in FL not firmly established| |
|
| 21 | +| |2 |relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023b]| |
|
| 17 | 22 | |
| 18 | 23 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 19 | 24 | |
| ... | ... | @@ -46,4 +51,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 46 | 51 | <!-- FL: russler-germainMutationsAssociatedProgression2023b --> |
| 47 | 52 | |
| 48 | 53 | ## References |
| 49 | -1. 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. |
CNOT2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CNOT2 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -14,7 +19,7 @@ timeline |
| 14 | 19 | |
| 15 | 20 | |Entity|Tier|Description | |
| 16 | 21 | |:------:|:----:|-----------------------------------------| |
| 17 | -| |2 |relevance in DLBCL not firmly established| |
|
| 22 | +| |2 |relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021b]| |
|
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 25 | |
| ... | ... | @@ -53,7 +58,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 53 | 58 | [SP192997](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP192997.html) |
| 54 | 59 | |
| 55 | 60 | ## References |
| 56 | -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 |
|
| 57 | 61 | |
| 58 | 62 | <!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
| 59 | 63 | <!-- DLBCL: hubschmannMutationalMechanismsShaping2021b --> |
CNTNAP5.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # CNTNAP5 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -14,7 +19,7 @@ timeline |
| 14 | 19 | |
| 15 | 20 | |Entity|Tier|Description | |
| 16 | 21 | |:------:|:----:|-----------------------------------------| |
| 17 | -| |2 |relevance in DLBCL not firmly established| |
|
| 22 | +| |2 |relevance in DLBCL not firmly established[@morinMutationalStructuralAnalysis2013]| |
|
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 25 | |
| ... | ... | @@ -46,8 +51,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/C |
| 46 | 51 |  |
| 47 | 52 | |
| 48 | 53 | ## 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 |
|
| 50 | - |
|
| 51 | 54 | |
| 52 | 55 | <!-- ORIGIN: morinMutationalStructuralAnalysis2013 --> |
| 53 | 56 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
DLGAP1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # DLGAP1 |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| ... | ... | @@ -18,7 +23,7 @@ timeline |
| 18 | 23 | |
| 19 | 24 | |Entity|Tier|Description | |
| 20 | 25 | |:------:|:----:|--------------------------------------| |
| 21 | -| |2 |relevance in BL not firmly established| |
|
| 26 | +| |2 |relevance in BL not firmly established[@loveGeneticLandscapeMutations2012]| |
|
| 22 | 27 | |
| 23 | 28 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 24 | 29 | |
| ... | ... | @@ -65,4 +70,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/D |
| 65 | 70 | [668](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/668_reports.html) |
| 66 | 71 | |
| 67 | 72 | ## References |
| 68 | -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 |
EZR.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # EZR |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -13,7 +18,7 @@ timeline |
| 13 | 18 | |
| 14 | 19 | |Entity|Tier|Description | |
| 15 | 20 | |:------:|:----:|-----------------------------------------| |
| 16 | -||2|relevance in PMBL/cHL/GZL not firmly established| |
|
| 21 | +||2|relevance in PMBL/cHL/GZL not firmly established[@deschGenotypingCirculatingTumor2020]| |
|
| 17 | 22 | | |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous | |
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -54,4 +59,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/E |
| 54 | 59 | <!-- PMBL: deschGenotypingCirculatingTumor2020 --> |
| 55 | 60 | |
| 56 | 61 | ## References |
| 57 | -1. Desch AK, Hartung K, Botzen A, Brobeil A, Rummel M, Kurch L, Georgi T, Jox T, Bielack S, Burdach S, Classen CF, Claviez A, Debatin KM, Ebinger M, Eggert A, Faber J, Flotho C, Frühwald M, Graf N, Jorch N, Kontny U, Kramm C, Kulozik A, Kühr J, Sykora KW, Metzler M, Müller HL, Nathrath M, Nüßlein T, Paulussen M, Pekrun A, Reinhardt D, Reinhard H, Rössig C, Sauerbrey A, Schlegel PG, Schneider DT, Scheurlen W, Schweigerer L, Simon T, Suttorp M, Vorwerk P, Schmitz R, Kluge R, Mauz-Körholz C, Körholz D, Gattenlöhner S, Bräuninger A. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma. Leukemia. 2020 Jan;34(1):151–166. PMID: 31431735 |
FANK1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # FANK1 |
| 2 | 7 | |
| 3 | 8 | ## Relevance tier by entity |
GPR126.md
| ... | ... | @@ -0,0 +1,39 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 6 | + |
|
| 7 | +# GPR126 |
|
| 8 | + |
|
| 9 | +## History |
|
| 10 | + |
|
| 11 | +```mermaid |
|
| 12 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 13 | +timeline |
|
| 14 | + title Publication timing |
|
| 15 | + 2006-04-27 : Weniger : PMBL |
|
| 16 | +``` |
|
| 17 | + |
|
| 18 | + |
|
| 19 | +## Relevance tier by entity |
|
| 20 | + |
|
| 21 | +|Entity|Tier|Description| |
|
| 22 | +|:------:|:----:|--------------------------------------| |
|
| 23 | +||2|relevance in PMBL/cHL/GZL not firmly established[@wenigerMutationsTumorSuppressor2006a]| |
|
| 24 | + |
|
| 25 | + |
|
| 26 | +## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
|
| 27 | + |
|
| 28 | +|Entity|source |frequency (%)| |
|
| 29 | +|:------:|:----:|:----:| |
|
| 30 | +|BL|GAMBL Exome |1.724 | |
|
| 31 | +|BL|GAMBL Genome |1.544 | |
|
| 32 | +|DLBCL|GAMBL Exome |2.372 | |
|
| 33 | +|DLBCL|GAMBL Genome |1.88 | |
|
| 34 | +|MCL|GAMBL Genome |0.585 | |
|
| 35 | + |
|
| 36 | + |
|
| 37 | +## References |
|
| 38 | + |
|
| 39 | + |
GPR98.md
| ... | ... | @@ -0,0 +1,40 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 6 | + |
|
| 7 | +# GPR98 |
|
| 8 | + |
|
| 9 | +## History |
|
| 10 | + |
|
| 11 | +```mermaid |
|
| 12 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 13 | +timeline |
|
| 14 | + title Publication timing |
|
| 15 | + 2016-09-08 : Spina : MZL |
|
| 16 | +``` |
|
| 17 | + |
|
| 18 | + |
|
| 19 | +## Relevance tier by entity |
|
| 20 | + |
|
| 21 | +|Entity|Tier|Description| |
|
| 22 | +|:------:|:----:|--------------------------------------| |
|
| 23 | +||2|relevance in MZL not firmly established[@spinaGeneticsNodalMarginal2016b]| |
|
| 24 | + |
|
| 25 | + |
|
| 26 | +## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
|
| 27 | + |
|
| 28 | +|Entity|source |frequency (%)| |
|
| 29 | +|:------:|:----:|:----:| |
|
| 30 | +|BL|GAMBL Exome |15.517 | |
|
| 31 | +|BL|GAMBL Genome |6.95 | |
|
| 32 | +|DLBCL|GAMBL Exome |10.997 | |
|
| 33 | +|DLBCL|GAMBL Genome |8.647 | |
|
| 34 | +|FL|GAMBL Exome |3.725 | |
|
| 35 | +|MCL|GAMBL Genome |1.754 | |
|
| 36 | + |
|
| 37 | + |
|
| 38 | +## References |
|
| 39 | + |
|
| 40 | + |
GPS2.md
| ... | ... | @@ -0,0 +1,39 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 6 | + |
|
| 7 | +# GPS2 |
|
| 8 | + |
|
| 9 | +## History |
|
| 10 | + |
|
| 11 | +```mermaid |
|
| 12 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 13 | +timeline |
|
| 14 | + title Publication timing |
|
| 15 | + 2012-08-27 : Rossi : MZL |
|
| 16 | +``` |
|
| 17 | + |
|
| 18 | + |
|
| 19 | +## Relevance tier by entity |
|
| 20 | + |
|
| 21 | +|Entity|Tier|Description| |
|
| 22 | +|:------:|:----:|--------------------------------------| |
|
| 23 | +||2|relevance in MZL not firmly established[@rossiCodingGenomeSplenic2012c]| |
|
| 24 | + |
|
| 25 | + |
|
| 26 | +## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
|
| 27 | + |
|
| 28 | +|Entity|source |frequency (%)| |
|
| 29 | +|:------:|:----:|:----:| |
|
| 30 | +|BL|GAMBL Exome |1.724 | |
|
| 31 | +|BL|GAMBL Genome |0.772 | |
|
| 32 | +|DLBCL|GAMBL Exome |0.647 | |
|
| 33 | +|DLBCL|GAMBL Genome |2.256 | |
|
| 34 | +|FL|GAMBL Exome |0.573 | |
|
| 35 | + |
|
| 36 | + |
|
| 37 | +## References |
|
| 38 | + |
|
| 39 | + |
IL13RA1.md
| ... | ... | @@ -0,0 +1,38 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 6 | + |
|
| 7 | +# IL13RA1 |
|
| 8 | + |
|
| 9 | +## History |
|
| 10 | + |
|
| 11 | +```mermaid |
|
| 12 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 13 | +timeline |
|
| 14 | + title Publication timing |
|
| 15 | + 2019-09-05 : Mottok : PMBL |
|
| 16 | +``` |
|
| 17 | + |
|
| 18 | + |
|
| 19 | +## Relevance tier by entity |
|
| 20 | + |
|
| 21 | +|Entity|Tier|Description| |
|
| 22 | +|:------:|:----:|--------------------------------------| |
|
| 23 | +||2|relevance in PMBL/cHL/GZL not firmly established[@mottokIntegrativeGenomicAnalysis2019b]| |
|
| 24 | + |
|
| 25 | + |
|
| 26 | +## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
|
| 27 | + |
|
| 28 | +|Entity|source |frequency (%)| |
|
| 29 | +|:------:|:----:|:----:| |
|
| 30 | +|BL|GAMBL Exome |1.724 | |
|
| 31 | +|DLBCL|GAMBL Exome |0.647 | |
|
| 32 | +|DLBCL|GAMBL Genome |0.752 | |
|
| 33 | +|FL|GAMBL Exome |0.287 | |
|
| 34 | + |
|
| 35 | + |
|
| 36 | +## References |
|
| 37 | + |
|
| 38 | + |
LCOR.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # LCOR |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| ... | ... | @@ -15,7 +20,7 @@ timeline |
| 15 | 20 | |
| 16 | 21 | |Entity|Tier|Description | |
| 17 | 22 | |:------:|:----:|--------------------------------------| |
| 18 | -| |1 |high-confidence DLBCL gene | |
|
| 23 | +| |1 |high-confidence DLBCL gene [@arthurGenomewideDiscoverySomatic2018]| |
|
| 19 | 24 | | |2 |relevance in BL not firmly established| |
| 20 | 25 | |
| 21 | 26 | |
| ... | ... | @@ -56,4 +61,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/L |
| 56 | 61 | <!-- DLBCL: arthurGenomewideDiscoverySomatic2018 --> |
| 57 | 62 | |
| 58 | 63 | ## References |
| 59 | -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 |
LPP.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # LPP |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -13,7 +18,7 @@ timeline |
| 13 | 18 | |
| 14 | 19 | |Entity|Tier|Description | |
| 15 | 20 | |:------:|:----:|-----------------------------------------| |
| 16 | -| |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous | |
|
| 21 | +| |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous [@arthurGenomewideDiscoverySomatic2018]| |
|
| 17 | 22 | |
| 18 | 23 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 19 | 24 | |
| ... | ... | @@ -62,4 +67,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/L |
| 62 | 67 | <!-- DLBCL: arthurGenomewideDiscoverySomatic2018 --> |
| 63 | 68 | |
| 64 | 69 | ## References |
| 65 | -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 |
LRP12.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # LRP12 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -14,7 +19,7 @@ timeline |
| 14 | 19 | |
| 15 | 20 | |Entity|Tier|Description | |
| 16 | 21 | |:------:|:----:|-----------------------------------------| |
| 17 | -| |2 |relevance in DLBCL not firmly established| |
|
| 22 | +| |2 |relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021b]| |
|
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 25 | |
| ... | ... | @@ -54,7 +59,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/L |
| 54 | 59 | [SP193258](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193258.html) |
| 55 | 60 | |
| 56 | 61 | ## References |
| 57 | -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 |
|
| 58 | 62 | |
| 59 | 63 | |
| 60 | 64 | <!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
LUZP4.md
| ... | ... | @@ -0,0 +1,38 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 6 | + |
|
| 7 | +# LUZP4 |
|
| 8 | + |
|
| 9 | +## History |
|
| 10 | + |
|
| 11 | +```mermaid |
|
| 12 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 13 | +timeline |
|
| 14 | + title Publication timing |
|
| 15 | + 2013-11-05 : Be : MCL |
|
| 16 | +``` |
|
| 17 | + |
|
| 18 | + |
|
| 19 | +## Relevance tier by entity |
|
| 20 | + |
|
| 21 | +|Entity|Tier|Description| |
|
| 22 | +|:------:|:----:|--------------------------------------| |
|
| 23 | +||2|relevance in MCL not firmly established[@beaLandscapeSomaticMutations2013]| |
|
| 24 | + |
|
| 25 | + |
|
| 26 | +## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
|
| 27 | + |
|
| 28 | +|Entity|source |frequency (%)| |
|
| 29 | +|:------:|:----:|:----:| |
|
| 30 | +|BL|GAMBL Exome |0.575 | |
|
| 31 | +|DLBCL|GAMBL Exome |0.863 | |
|
| 32 | +|DLBCL|GAMBL Genome |0.752 | |
|
| 33 | +|FL|GAMBL Exome |0.86 | |
|
| 34 | + |
|
| 35 | + |
|
| 36 | +## References |
|
| 37 | + |
|
| 38 | + |