b63341be2bf069b6690a3b7c971977b7cc0e96dc
ABI3BP.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ABI3BP |
| 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 | |
| ... | ... | @@ -46,7 +51,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 46 | 51 | |
| 47 | 52 | ## References |
| 48 | 53 | |
| 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 | 54 | |
| 51 | 55 | |
| 52 | 56 | <!-- ORIGIN: morinMutationalStructuralAnalysis2013 --> |
ABL2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ABL2 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|--------------------------------------| |
| 15 | -| |2 |relevance in FL not firmly established| |
|
| 20 | +| |2 |relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023b]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -41,7 +46,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 41 | 46 |  |
| 42 | 47 | |
| 43 | 48 | ## References |
| 44 | -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.* |
|
| 45 | 49 | |
| 46 | 50 | |
| 47 | 51 | <!-- ORIGIN: russler-germainMutationsAssociatedProgression2023a --> |
ACAD9.md
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| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ACAD9 |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| ... | ... | @@ -16,7 +21,7 @@ timeline |
| 16 | 21 | |
| 17 | 22 | |Entity|Tier|Description | |
| 18 | 23 | |:------:|:----:|--------------------------------------| |
| 19 | -| |2 |relevance in BL not firmly established| |
|
| 24 | +| |2 |relevance in BL not firmly established[@loveGeneticLandscapeMutations2012]| |
|
| 20 | 25 | |
| 21 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 27 | |
| ... | ... | @@ -61,7 +66,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 61 | 66 | |
| 62 | 67 | |
| 63 | 68 | ## References |
| 64 | -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* |
|
| 65 | 69 | |
| 66 | 70 | <!-- ORIGIN: loveGeneticLandscapeMutations2012 --> |
| 67 | 71 | <!-- BL: loveGeneticLandscapeMutations2012 --> |
ACE.md
| ... | ... | @@ -1,4 +1,10 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ACE |
| 7 | + |
|
| 2 | 8 | ## Overview |
| 3 | 9 | |
| 4 | 10 | Due to [minimal support](ACE#representative-mutation) in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL. |
| ... | ... | @@ -15,7 +21,7 @@ timeline |
| 15 | 21 | |
| 16 | 22 | |Entity|Tier|Description | |
| 17 | 23 | |:------:|:----:|--------------------------------------| |
| 18 | -| |2 |relevance in BL not firmly established| |
|
| 24 | +| |2 |relevance in BL not firmly established[@loveGeneticLandscapeMutations2012]| |
|
| 19 | 25 | |
| 20 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 21 | 27 | |
| ... | ... | @@ -63,4 +69,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 63 | 69 | [744](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/744_reports.html) |
| 64 | 70 | |
| 65 | 71 | ## References |
| 66 | -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 |
ADAMTS1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ADAMTS1 |
| 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 +59,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 54 | 59 | [SP193337](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193337.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 |
|
| 62 | + |
|
| 58 | 63 | |
| 59 | 64 | <!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
| 60 | 65 |
ADAMTS5.md
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| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ADAMTS5 |
| 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 | |
| ... | ... | @@ -45,4 +50,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 45 | 50 | <!-- BL: burkhardtClinicalRelevanceMolecular2022b --> |
| 46 | 51 | |
| 47 | 52 | ## 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 |
ADNP.md
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| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ADNP |
| 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/A |
| 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 |
H1FOO.md
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| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 6 | + |
|
| 7 | +# H1FOO |
|
| 8 | + |
|
| 9 | +## History |
|
| 10 | + |
|
| 11 | +```mermaid |
|
| 12 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 13 | +timeline |
|
| 14 | + title Publication timing |
|
| 15 | + 2012-03-06 : Lohr : DLBCL |
|
| 16 | +``` |
|
| 17 | + |
|
| 18 | + |
|
| 19 | +## Relevance tier by entity |
|
| 20 | + |
|
| 21 | +|Entity|Tier|Description| |
|
| 22 | +|:------:|:----:|--------------------------------------| |
|
| 23 | +||2|relevance in DLBCL not firmly established[@lohrDiscoveryPrioritizationSomatic2012a]| |
|
| 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 |1.158 | |
|
| 32 | +|DLBCL|GAMBL Exome |0.701 | |
|
| 33 | + |
|
| 34 | + |
|
| 35 | +## References |
|
| 36 | + |
|
| 37 | + |