cce3dab7cddaf9577319b784c4257d475fe508b4
DLGAP1.md
| ... | ... | @@ -9,6 +9,7 @@ link-citations: true |
| 9 | 9 | |
| 10 | 10 | Due to [minimal support](DLGAP1#representative-mutation) in the original primary data, [low expression in BL](DLGAP1#dlgap1-expression) and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL. |
| 11 | 11 | |
| 12 | +<<Warn("The variants reported in this gene in BL failed QC")>> |
|
| 12 | 13 | |
| 13 | 14 | ## History |
| 14 | 15 | |
| ... | ... | @@ -23,7 +24,7 @@ timeline |
| 23 | 24 | |
| 24 | 25 | |Entity|Tier|Description | |
| 25 | 26 | |:------:|:----:|--------------------------------------| |
| 26 | -| |2 |relevance in BL not firmly established[@loveGeneticLandscapeMutations2012]| |
|
| 27 | +| |2-F |Failed QC[@loveGeneticLandscapeMutations2012]| |
|
| 27 | 28 | |
| 28 | 29 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 29 | 30 |
EIF2C4.md
| ... | ... | @@ -5,6 +5,8 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | # EIF2C4 |
| 7 | 7 | |
| 8 | +<<Warn("The variants reported in this gene in BL failed QC")>> |
|
| 9 | + |
|
| 8 | 10 | ## History |
| 9 | 11 | |
| 10 | 12 | ```mermaid |
| ... | ... | @@ -18,7 +20,7 @@ timeline |
| 18 | 20 | |
| 19 | 21 | |Entity|Tier|Description | |
| 20 | 22 | |:------:|:----:|--------------------------------------| |
| 21 | -| |2 |relevance in BL not firmly established[@loveGeneticLandscapeMutations2012]| |
|
| 23 | +| |2 | Failed QC[@loveGeneticLandscapeMutations2012]| |
|
| 22 | 24 | |
| 23 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 24 | 26 |
PCDHA11.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PCDHA11 |
| 2 | 7 | |
| 3 | 8 | <<Warn("The variants reported in this gene failed QC")>> |
| ... | ... | @@ -15,7 +20,7 @@ timeline |
| 15 | 20 | |
| 16 | 21 | |Entity|Tier|Description | |
| 17 | 22 | |:------:|:----:|--------------------------------------| |
| 18 | -| |2-F |Failed QC| |
|
| 23 | +| |2-F |Failed QC[@paneaWholeGenomeLandscape2019]| |
|
| 19 | 24 | |
| 20 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 21 | 26 | |
| ... | ... | @@ -56,4 +61,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 56 | 61 | ★ ☆ ☆ ☆ ☆ |
| 57 | 62 | |
| 58 | 63 | ## References |
| 59 | -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; |
PCDHB11.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PCDHB11 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|-----------------------------------------| |
| 15 | -| |2 |relevance in DLBCL not firmly established| |
|
| 20 | +| |2 |relevance in DLBCL not firmly established[@morinMutationalStructuralAnalysis2013]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -46,4 +51,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 46 | 51 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 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 |
PCDHB2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PCDHB2 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|---------------------------------------| |
| 15 | -| |2 |relevance in MCL not firmly established| |
|
| 20 | +| |2 |relevance in MCL not firmly established[@zhangGenomicLandscapeMantle2014]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -44,4 +49,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 44 | 49 | <!-- MCL: zhangGenomicLandscapeMantle2014 --> |
| 45 | 50 | |
| 46 | 51 | ## References |
| 47 | -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. |
|
| 52 | + |
PCLO.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PCLO |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -14,7 +19,7 @@ timeline |
| 14 | 19 | |:------:|:----:|-----------------------------------------| |
| 15 | 20 | ||1|high-confidence MZL gene| |
| 16 | 21 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 17 | -| |2 |relevance in DLBCL not firmly established| |
|
| 22 | +| |2 |relevance in DLBCL not firmly established[@lohrDiscoveryPrioritizationSomatic2012a]| |
|
| 18 | 23 | | |1 |high-confidence FL gene | |
| 19 | 24 | |
| 20 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -56,7 +61,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 56 | 61 |  |
| 57 | 62 | |
| 58 | 63 | ## References |
| 59 | -1. *Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3879-84. doi: 10.1073/pnas.1121343109. Epub 2012 Feb 17. PMID: 22343534; PMCID: PMC3309757.* |
|
| 60 | 64 | |
| 61 | 65 | |
| 62 | 66 | <!-- ORIGIN: lohrDiscoveryPrioritizationSomatic2012a --> |
PDE4DIP.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PDE4DIP |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|-----------------------------------------| |
| 15 | -| |2 |relevance in DLBCL not firmly established| |
|
| 20 | +| |2 |relevance in DLBCL not firmly established[@chapuyMolecularSubtypesDiffuse2018b]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -46,4 +51,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 46 | 51 | <!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b --> |
| 47 | 52 | |
| 48 | 53 | ## References |
| 49 | -1. Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387 |
|
| 54 | + |
PDS5B.md
| ... | ... | @@ -1,7 +1,12 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PDS5B |
| 2 | 7 | |
| 3 | 8 | ## History |
| 4 | -Mutations in this gene were first described in DLBCL in 2013 by Morin et al<sup>1</sup> and in FL in 2021 by Hübschmann et al.<sup>2</sup> |
|
| 9 | + |
|
| 5 | 10 | |
| 6 | 11 | ```mermaid |
| 7 | 12 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
| ... | ... | @@ -15,8 +20,8 @@ timeline |
| 15 | 20 | |
| 16 | 21 | |Entity|Tier|Description | |
| 17 | 22 | |:------:|:----:|-----------------------------------------| |
| 18 | -| |2 |relevance in DLBCL not firmly established| |
|
| 19 | -| |2 |relevance in FL not firmly established | |
|
| 23 | +| |2 |relevance in DLBCL not firmly established[@morinMutationalStructuralAnalysis2013]| |
|
| 24 | +| |2 |relevance in FL not firmly established [@hubschmannMutationalMechanismsShaping2021b]| |
|
| 20 | 25 | |
| 21 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 27 | |
| ... | ... | @@ -61,9 +66,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 61 | 66 | |
| 62 | 67 | |
| 63 | 68 | ## References |
| 64 | -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 |
|
| 65 | - |
|
| 66 | -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 |
|
| 67 | 69 | |
| 68 | 70 | <!-- ORIGIN: morinMutationalStructuralAnalysis2013 --> |
| 69 | 71 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
PDZRN3.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PDZRN3 |
| 2 | 7 | |
| 3 | 8 | <<Warn("The variants reported in this gene failed QC")>> |
| ... | ... | @@ -16,7 +21,7 @@ timeline |
| 16 | 21 | |
| 17 | 22 | |Entity|Tier|Description | |
| 18 | 23 | |:------:|:----:|--------------------------------------| |
| 19 | -| |2-F |Failed QC| |
|
| 24 | +| |2-F |Failed QC[@paneaWholeGenomeLandscape2019]| |
|
| 20 | 25 | |
| 21 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 27 | |
| ... | ... | @@ -57,4 +62,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 57 | 62 | ★ ★ ☆ ☆ ☆ |
| 58 | 63 | |
| 59 | 64 | ## References |
| 60 | -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; |
|
| 65 | + |
PHF6.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PHF6 |
| 2 | 7 | |
| 3 | 8 | <<Warn("The variants reported in this gene in DLBCL failed QC")>> |
| ... | ... | @@ -15,8 +20,8 @@ timeline |
| 15 | 20 | |
| 16 | 21 | |Entity|Tier|Description | |
| 17 | 22 | |:------:|:----:|-----------------------------------------| |
| 18 | -| |1 |high-confidence BL gene | |
|
| 19 | -| |2-F |failed QC| |
|
| 23 | +| |1 |high-confidence BL gene [@thomasGeneticSubgroupsInform2023]| |
|
| 24 | +| |2-F |failed QC[@reddyGeneticFunctionalDrivers2017]| |
|
| 20 | 25 | |
| 21 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 27 | |
| ... | ... | @@ -78,5 +83,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 78 | 83 | [Reddy_823T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_823T.html) |
| 79 | 84 | |
| 80 | 85 | ## References |
| 81 | -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. |
|
| 82 | -2. 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. |
PIK3CD.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PIK3CD |
| 2 | 7 | |
| 3 | 8 | <<Warn("The variants reported in this gene in DLBCL failed QC")>> |
| ... | ... | @@ -14,7 +19,7 @@ timeline |
| 14 | 19 | |
| 15 | 20 | |Entity|Tier|Description | |
| 16 | 21 | |:------:|:----:|-----------------------------------------| |
| 17 | -| |2-F |failed QC| |
|
| 22 | +| |2-F |failed QC[@reddyGeneticFunctionalDrivers2017]| |
|
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 25 | |
| ... | ... | @@ -124,4 +129,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 124 | 129 | [Reddy_3974T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3974T.html) |
| 125 | 130 | |
| 126 | 131 | ## References |
| 127 | -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. |
|
| 132 | + |
PIK3R1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PIK3R1 |
| 2 | 7 | |
| 3 | 8 | <<Warn("The variants reported in this gene in BL failed QC")>> |
| ... | ... | @@ -17,8 +22,8 @@ timeline |
| 17 | 22 | |
| 18 | 23 | |Entity|Tier|Description | |
| 19 | 24 | |:------:|:----:|-----------------------------------------| |
| 20 | -| |2-F |Failed QC| |
|
| 21 | -| |2 |relevance in DLBCL not firmly established| |
|
| 25 | +| |2-F |Failed QC[@paneaWholeGenomeLandscape2019]| |
|
| 26 | +| |2 |relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013]| |
|
| 22 | 27 | |
| 23 | 28 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 24 | 29 | |
| ... | ... | @@ -76,5 +81,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 76 | 81 | ★ ☆ ☆ ☆ ☆ |
| 77 | 82 | |
| 78 | 83 | ## References |
| 79 | -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;* |
|
| 80 | -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;* |
|
| 84 | + |
PIM1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PIM1 |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| ... | ... | @@ -17,9 +22,9 @@ timeline |
| 17 | 22 | |
| 18 | 23 | |Entity|Tier|Description | |
| 19 | 24 | |:------:|:----:|--------------------------------------| |
| 20 | -||1|high-confidence PMBL/cHL/GZL gene| |
|
| 21 | -| |2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous | |
|
| 22 | -| |1-a | aSHM target and high-confidence DLBCL gene | |
|
| 25 | +||1|high-confidence PMBL/cHL/GZL gene[@dunsCharacterizationDLBCLPMBL2021b]| |
|
| 26 | +| |2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@burkhardtClinicalRelevanceMolecular2022b]| |
|
| 27 | +| |1-a | aSHM target and high-confidence DLBCL gene [@pasqualucciHypermutationMultipleProtooncogenes2001a]| |
|
| 23 | 28 | | |1-a | aSHM target and high-confidence FL gene | |
| 24 | 29 | |
| 25 | 30 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -92,7 +97,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 92 | 97 | <!-- DLBCL: pasqualucciHypermutationMultipleProtooncogenes2001a --> |
| 93 | 98 | |
| 94 | 99 | ## References |
| 95 | -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 |
|
| 96 | -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 |
|
| 97 | -3. 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 |
|
| 100 | +4 |
|
| 98 | 101 | <!-- PMBL: dunsCharacterizationDLBCLPMBL2021b --> |
PKD1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PKD1 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|-----------------------------------------| |
| 15 | -| |2 |relevance in DLBCL not firmly established| |
|
| 20 | +| |2 |relevance in DLBCL not firmly established[@morinMutationalStructuralAnalysis2013]| |
|
| 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/P |
| 47 | 52 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 48 | 53 | |
| 49 | 54 | ## References |
| 50 | -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 |
PLXNB3.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PLXNB3 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -13,8 +18,8 @@ timeline |
| 13 | 18 | |
| 14 | 19 | |Entity|Tier|Description | |
| 15 | 20 | |:------:|:----:|---------------------------------------| |
| 16 | -||2|relevance in MZL not firmly established| |
|
| 17 | -| |2 |relevance in MCL not firmly established| |
|
| 21 | +||2|relevance in MZL not firmly established[@spinaGeneticsNodalMarginal2016b]| |
|
| 22 | +| |2 |relevance in MCL not firmly established[@zhangGenomicLandscapeMantle2014]| |
|
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 25 | |
| ... | ... | @@ -47,5 +52,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 47 | 52 | <!-- MZL: spinaGeneticsNodalMarginal2016b --> |
| 48 | 53 | |
| 49 | 54 | ## References |
| 50 | -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. |
|
| 51 | -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. |
|
| 55 | + |
PNPO.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PNPO |
| 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 | |
| ... | ... | @@ -51,7 +56,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 51 | 56 | [SP116610](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP116610.html) |
| 52 | 57 | |
| 53 | 58 | ## 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 |
|
| 59 | + |
|
| 55 | 60 | |
| 56 | 61 | <!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
| 57 | 62 | <!-- DLBCL: hubschmannMutationalMechanismsShaping2021b --> |
POGZ.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # POGZ |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|-----------------------------------------| |
| 15 | -| |2 |relevance in DLBCL not firmly established| |
|
| 20 | +| |2 |relevance in DLBCL not firmly established[@morinMutationalStructuralAnalysis2013]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -47,4 +52,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 47 | 52 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 48 | 53 | |
| 49 | 54 | ## References |
| 50 | -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 |
|
| 55 | + |
POLRMT.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # POLRMT |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|--------------------------------------| |
| 15 | -| |2-F |Failed QC| |
|
| 20 | +| |2-F |Failed QC[@loveGeneticLandscapeMutations2012]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -55,4 +60,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 55 | 60 | [670](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/670_reports.html) |
| 56 | 61 | |
| 57 | 62 | ## References |
| 58 | -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 |
|
| 63 | + |