03a8a5f9e84a0affbae0d3fd5144da66253d081d
NFKBIE.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NFKBIE |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| ... | ... | @@ -18,9 +23,9 @@ timeline |
| 18 | 23 | |
| 19 | 24 | |Entity|Tier|Description | |
| 20 | 25 | |:------:|:----:|--------------------------| |
| 21 | -||1|high-confidence PMBL/cHL/GZL gene| |
|
| 22 | -| |1 |high-confidence DLBCL gene| |
|
| 23 | -| |1 |high-confidence MCL gene | |
|
| 26 | +||1|high-confidence PMBL/cHL/GZL gene[@mansouriFrequentNFKBIEDeletions2016]| |
|
| 27 | +| |1 |high-confidence DLBCL gene[@morinGeneticLandscapesRelapsed2016]| |
|
| 28 | +| |1 |high-confidence MCL gene [@pararajalingamCodingNoncodingDrivers2020]| |
|
| 24 | 29 | |
| 25 | 30 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 26 | 31 | |
| ... | ... | @@ -55,8 +60,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 55 | 60 |  |
| 56 | 61 | |
| 57 | 62 | ## References |
| 58 | -1. *Mansouri, L., Noerenberg, D., Young, E., Mylonas, E., Abdulla, M., Frick, M., Asmar, F., Ljungström, V., Schneider, M., Yoshida, K., Skaftason, A., Pandzic, T., González, B., Tasidou, A., Waldhueter, N., Rivas-Delgado, A., Angelopoulou, M., Ziepert, M., Arends, C., Couronné, L., Lenze, D., Baldus, C., Bastard, C., Okosun, J., Fitzgibbon, J., Dörken, B., Drexler, H., Roos-Weil, D., Schmitt, C., Munch-Petersen, H., Zenz, T., Hansmann, M., Strefford, J., Enblad, G., Bernard, O., Ralfkiaer, E., Erlanson, M., Korkolopoulou, P., Hultdin, M., Papadaki, T., Grønbæk, K., López-Guillermo, A., Ogawa, S., Küppers, R., Stamatopoulos, K., Stavroyianni, N., Kanellis, G., Rosenwald, A., Campo, E., Amini, R., Ott, G., Vassilakopoulos, T., Hummel, M., Rosenquist, R., & Damm, F. (2016). Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma.. Blood, 128 23, 2666-2670 . https://doi.org/10.1182/BLOOD-2016-03-704528.* |
|
| 59 | -2. *Pararajalingam P, Coyle KM, Arthur SE, Thomas N, Alcaide M, Meissner B, Boyle M, Qureshi Q, Grande BM, Rushton C, Slack GW, Mungall AJ, Tam CS, Agarwal R, Dawson SJ, Lenz G, Balasubramanian S, Gascoyne RD, Steidl C, Connors J, Villa D, Audas TE, Marra MA, Johnson NA, Scott DW, Morin RD. Coding and noncoding drivers of mantle cell lymphoma identified through exome and genome sequencing. Blood. 2020 Jul 30;136(5):572-584. doi: 10.1182/blood.2019002385. PMID: 32160292; PMCID: PMC7440974.*<!-- ORIGIN: morinGeneticLandscapesRelapsed2016 --> |
|
| 63 | +<!-- ORIGIN: morinGeneticLandscapesRelapsed2016 --> |
|
| 60 | 64 | <!-- DLBCL: morinGeneticLandscapesRelapsed2016 --> |
| 61 | 65 | <!-- MCL: pararajalingamCodingNoncodingDrivers2020 --> |
| 62 | 66 | <!-- PMBL: mansouriFrequentNFKBIEDeletions2016 --> |
NFKBIZ.md
| ... | ... | @@ -1,7 +1,12 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NFKBIZ |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| 4 | -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> |
|
| 9 | +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.[@arthurGenomewideDiscoverySomatic2018] |
|
| 5 | 10 | |
| 6 | 11 | ## History |
| 7 | 12 | ```mermaid |
| ... | ... | @@ -15,7 +20,7 @@ timeline |
| 15 | 20 | |
| 16 | 21 | |Entity|Tier|Description | |
| 17 | 22 | |:------:|:----:|--------------------------| |
| 18 | -| |1-a | aSHM target and high-confidence DLBCL gene| |
|
| 23 | +| |1-a | aSHM target and high-confidence DLBCL gene[@morinGeneticLandscapesRelapsed2016]| |
|
| 19 | 24 | |
| 20 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 21 | 26 | |
| ... | ... | @@ -54,7 +59,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 54 | 59 |  |
| 55 | 60 | |
| 56 | 61 | ## 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. doi: 10.1038/s41467-018-06354-3. PMID: 30275490; PMCID: PMC6167379.* |
|
| 62 | + |
|
| 58 | 63 | |
| 59 | 64 | <!-- NONCODING --> |
| 60 | 65 | <!-- ORIGIN: morinGeneticLandscapesRelapsed2016 --> |
NIN.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NIN |
| 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 | |
| ... | ... | @@ -45,4 +50,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 45 | 50 | <!-- MCL: zhangGenomicLandscapeMantle2014 --> |
| 46 | 51 | |
| 47 | 52 | ## References |
| 48 | -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. |
|
| 53 | + |
NLRC5.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NLRC5 |
| 2 | 7 | |
| 3 | 8 | ## Relevance tier by entity |
NLRP5.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NLRP5 |
| 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/N |
| 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 | + |
NLRP8.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NLRP8 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -13,7 +18,7 @@ timeline |
| 13 | 18 | |
| 14 | 19 | |Entity|Tier|Description | |
| 15 | 20 | |:------:|:----:|-----------------------------------------| |
| 16 | -| |2 |relevance in DLBCL not firmly established| |
|
| 21 | +| |2 |relevance in DLBCL not firmly established[@chapuyMolecularSubtypesDiffuse2018b]| |
|
| 17 | 22 | |
| 18 | 23 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 19 | 24 | |
| ... | ... | @@ -47,4 +52,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 47 | 52 | <!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b --> |
| 48 | 53 | |
| 49 | 54 | ## References |
| 50 | -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 |
|
| 55 | + |
NLRP8_tmp.html
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|
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|
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| 359 | +<body>
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| 360 | + <script>
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| 365 | + : 'default'
|
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| 366 | + });
|
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| 367 | + </script>
|
|
| 368 | +<h1 id="nlrp8">NLRP8</h1> |
|
| 369 | +<h2 id="history">History</h2> |
|
| 370 | +<pre><code class="language-mermaid"><div class="mermaid">%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 371 | +timeline |
|
| 372 | + title Publication timing |
|
| 373 | + 2018-05-01 : Chapuy : 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> |
|
| 380 | +<th style="text-align:center">Tier</th> |
|
| 381 | +<th>Description</th> |
|
| 382 | +</tr> |
|
| 383 | +</thead> |
|
| 384 | +<tbody> |
|
| 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[@chapuyMolecularSubtypesDiffuse2018b]</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> |
|
| 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">3.40</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">2.10</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">3.42</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">2.456</td> |
|
| 441 | +<td style="text-align:center">7.316</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">2.731</td> |
|
| 448 | +<td style="text-align:center">0.000</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">0.000</td> |
|
| 456 | +</tr> |
|
| 457 | +</tbody> |
|
| 458 | +</table> |
|
| 459 | +<p>View coding variants in ProteinPaint <a href="https://morinlab.github.io/LLMPP/GAMBL/NLRP8_protein.html">hg19</a> or <a href="https://morinlab.github.io/LLMPP/GAMBL/NLRP8_protein_hg38.html">hg38</a></p> |
|
| 460 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/proteinpaint/NLRP8_NM_176811.svg" alt=""></p> |
|
| 461 | +<p>View all variants in GenomePaint <a href="https://morinlab.github.io/LLMPP/GAMBL/NLRP8.html">hg19</a> or <a href="https://morinlab.github.io/LLMPP/GAMBL/NLRP8_hg38.html">hg38</a></p> |
|
| 462 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/proteinpaint/NLRP8.svg" alt=""></p> |
|
| 463 | +<h2 id="nlrp8-expression">NLRP8 Expression</h2> |
|
| 464 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/gene_expression/NLRP8_by_pathology.svg" alt=""></p> |
|
| 465 | +<!-- ORIGIN: chapuyMolecularSubtypesDiffuse2018b --> |
|
| 466 | +<!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b --> |
|
| 467 | +<h2 id="references">References</h2> |
|
| 468 | +
|
|
| 469 | +</body>
|
|
| 470 | +</html>
|
NOA1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NOA1 |
| 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 +50,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 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 |
|
| 53 | + |
NOL9.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NOL9 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -13,8 +18,8 @@ timeline |
| 13 | 18 | |
| 14 | 19 | |Entity|Tier|Description | |
| 15 | 20 | |:------:|:----:|--------------------------| |
| 16 | -||1|high-confidence MZL gene| |
|
| 17 | -| |1 |high-confidence DLBCL gene| |
|
| 21 | +||1|high-confidence MZL gene[@spinaGeneticsNodalMarginal2016b]| |
|
| 22 | +| |1 |high-confidence DLBCL gene[@schmitzGeneticsPathogenesisDiffuse2018a]| |
|
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 25 | |
| ... | ... | @@ -58,5 +63,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 58 | 63 | <!-- MZL: spinaGeneticsNodalMarginal2016b --> |
| 59 | 64 | |
| 60 | 65 | ## References |
| 61 | -1. 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. |
|
| 62 | -2. 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 |
|
| 66 | + |
NOTCH1.md
| ... | ... | @@ -1,7 +1,13 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NOTCH1 |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| 4 | 9 | The relevance of NOTCH1 mutations in various malignancies has been well established. However, *due to [minimal support](NOTCH1#representative-mutations) in the original primary data and very few mutations reported in subsequent BL studies, this gene is very unlikely to be relevant in BL.* |
| 10 | +<<Warn("The variants reported in this gene in BL failed QC")>> |
|
| 5 | 11 | |
| 6 | 12 | ## History |
| 7 | 13 | |
| ... | ... | @@ -19,8 +25,8 @@ timeline |
| 19 | 25 | |
| 20 | 26 | |Entity|Tier|Description | |
| 21 | 27 | |:------:|:----:|--------------------------------------| |
| 22 | -||1|high-confidence MZL gene| |
|
| 23 | -| |2-F |Failed QC| |
|
| 28 | +||1|high-confidence MZL gene[@rossiCodingGenomeSplenic2012c]| |
|
| 29 | +| |2-F |Failed QC[@loveGeneticLandscapeMutations2012]| |
|
| 24 | 30 | | |1 |high-confidence DLBCL gene | |
| 25 | 31 | | |1 |high-confidence MCL gene | |
| 26 | 32 | |
| ... | ... | @@ -88,7 +94,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 88 | 94 | [513](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/513_reports.html) |
| 89 | 95 | |
| 90 | 96 | ## References |
| 91 | -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 |
|
| 92 | -2. 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 |
|
| 93 | -3. 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 |
|
| 94 | -4. Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. PNAS. 2013 Nov 5;110(45):18250–18255. PMID: 24145436 |
|
| 97 | + |
NOTCH2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NOTCH2 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -14,9 +19,10 @@ timeline |
| 14 | 19 | |
| 15 | 20 | |Entity|Tier|Description | |
| 16 | 21 | |:------:|:----:|--------------------------------------| |
| 17 | -||1|high-confidence MZL gene| |
|
| 18 | -| |1 |high-confidence DLBCL gene | |
|
| 19 | -| |1 |high-confidence MCL gene | |
|
| 22 | +||1|high-confidence MZL gene[@rossiCodingGenomeSplenic2012c]| |
|
| 23 | +| |1 |high-confidence DLBCL gene [@troenNOTCH2MutationsMarginal2008]| |
|
| 24 | +| |1 |high-confidence MCL gene [@beaLandscapeSomaticMutations2013]| |
|
| 25 | + |
|
| 20 | 26 | |
| 21 | 27 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 28 | |
| ... | ... | @@ -58,10 +64,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 58 | 64 | <!-- DLBCL: troenNOTCH2MutationsMarginal2008 --> |
| 59 | 65 | <!-- MCL: beaLandscapeSomaticMutations2013 --> |
| 60 | 66 | <!-- MZL: rossiCodingGenomeSplenic2012c --> |
| 61 | -<!-- BL: paneaWholeGenomeLandscape2019 --> |
|
| 62 | 67 | |
| 63 | -## References |
|
| 64 | -1. Trøen G, Wlodarska I, Warsame A, Hernández Llodrà S, De Wolf-Peeters C, Delabie J. NOTCH2 mutations in marginal zone lymphoma. Haematologica. 2008 Jul;93(7):1107–1109. PMID: 18508802 |
|
| 65 | -2. 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 |
|
| 66 | -3. Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. PNAS. 2013 Nov 5;110(45):18250–18255. PMID: 24145436 |
|
| 67 | 68 | |
| 69 | +## References |
NRXN2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NRXN2 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -59,4 +64,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 59 | 64 | |
| 60 | 65 | |
| 61 | 66 | ## References |
| 62 | -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 |
|
| 67 | + |
NSD2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # NSD2 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -13,7 +18,7 @@ timeline |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|------------------------| |
| 15 | 20 | ||2|relevance in PMBL/cHL/GZL not firmly established| |
| 16 | -| |1 |high-confidence MCL gene| |
|
| 21 | +| |1 |high-confidence MCL gene[@beaLandscapeSomaticMutations2013]| |
|
| 17 | 22 | |
| 18 | 23 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 19 | 24 | |
| ... | ... | @@ -42,4 +47,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/N |
| 42 | 47 | <!-- MCL: beaLandscapeSomaticMutations2013 --> |
| 43 | 48 | |
| 44 | 49 | ## References |
| 45 | -1. Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. PNAS. 2013 Nov 5;110(45):18250–18255. PMID: 24145436 |
|
| 50 | + |
ODZ3.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ODZ3 |
| 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 | |
| ... | ... | @@ -34,4 +39,4 @@ timeline |
| 34 | 39 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 35 | 40 | |
| 36 | 41 | ## References |
| 37 | -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 |
|
| 42 | + |
OGDHL.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # OGDHL |
| 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/O |
| 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 | + |
OR8H2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # OR8H2 |
| 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 | |
| ... | ... | @@ -44,4 +49,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/O |
| 44 | 49 | <!-- FL: russler-germainMutationsAssociatedProgression2023b --> |
| 45 | 50 | |
| 46 | 51 | ## References |
| 47 | -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. |
|
| 52 | + |
OSBPL10.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # OSBPL10 |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| ... | ... | @@ -16,7 +21,7 @@ timeline |
| 16 | 21 | |Entity|Tier|Description | |
| 17 | 22 | |:------:|:----:|--------------------------------------| |
| 18 | 23 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 19 | -| |1-a | aSHM target and high-confidence DLBCL gene | |
|
| 24 | +| |1-a | aSHM target and high-confidence DLBCL gene [@arthurGenomewideDiscoverySomatic2018]| |
|
| 20 | 25 | |
| 21 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 27 | |
| ... | ... | @@ -56,4 +61,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/O |
| 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 |
|
| 64 | + |
P2RX5.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # P2RX5 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|-----------------------------------------| |
| 15 | -| |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous | |
|
| 20 | +| |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous [@morinMutationalStructuralAnalysis2013]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -53,4 +58,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 53 | 58 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 54 | 59 | |
| 55 | 60 | ## References |
| 56 | -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 |
|
| 61 | + |
P2RY2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # P2RY2 |
| 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[@loveGeneticLandscapeMutations2012]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -58,4 +63,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 58 | 63 | [668](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/668_reports.html) |
| 59 | 64 | |
| 60 | 65 | ## 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 |
|
| 66 | + |
P2RY8.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # P2RY8 |
| 2 | 7 | P2RY8 encodes a G protein–coupled receptor that is expressed on germinal center B cells. Signals through this receptor promote confinement of B cells to the GC niche.<sup>1</sup> Downstream signaling through Galpha13 (encoded by GNA13) and S1PR2 is distrupted by mutations of one of these genes in GC lymphomas including the GCB subgroup of DLBCL<sup>2</sup> and BL.<sup>1</sup> |
| 3 | 8 | |
| ... | ... | @@ -15,8 +20,8 @@ timeline |
| 15 | 20 | |Entity|Tier|Description | |
| 16 | 21 | |:------:|:----:|--------------------------------------| |
| 17 | 22 | ||1|high-confidence PMBL/cHL/GZL gene| |
| 18 | -| |1 |high-confidence BL gene | |
|
| 19 | -| |1 |high-confidence DLBCL gene | |
|
| 23 | +| |1 |high-confidence BL gene [@muppidiLossSignalingGa132014b]| |
|
| 24 | +| |1 |high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012a]| |
|
| 20 | 25 | | |2 |relevance in FL not firmly established| |
| 21 | 26 | |
| 22 | 27 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -53,8 +58,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 53 | 58 |  |
| 54 | 59 | |
| 55 | 60 | ## References |
| 56 | -1. *Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG. Loss of signalling via Gα13 in germinal centre B-cell-derived lymphoma. Nature. 2014 Dec 11;516(7530):254-8. doi: 10.1038/nature13765. Epub 2014 Sep 28. PMID: 25274307; PMCID: PMC4267955.* |
|
| 57 | -2. *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.* |
|
| 61 | + |
|
| 58 | 62 | |
| 59 | 63 | <!-- ORIGIN: lohrDiscoveryPrioritizationSomatic2012a --> |
| 60 | 64 | <!-- BL: muppidiLossSignalingGa132014b --> |
PABPC4L.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PABPC4L |
| 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 | |
| ... | ... | @@ -62,4 +67,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 62 | 67 | |
| 63 | 68 | |
| 64 | 69 | ## References |
| 65 | -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; |
|
| 70 | + |
PAPOLG.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PAPOLG |
| 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[@schmitzGeneticsPathogenesisDiffuse2018a]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -48,4 +53,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 48 | 53 | <!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a --> |
| 49 | 54 | |
| 50 | 55 | ## References |
| 51 | -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 |
|
| 56 | + |
PASK.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PASK |
| 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 | |
| ... | ... | @@ -48,4 +53,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 48 | 53 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 49 | 54 | |
| 50 | 55 | ## References |
| 51 | -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 |
|
| 56 | + |
PAX5.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PAX5 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|-----------------------------------------| |
| 15 | -| |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous | |
|
| 20 | +| |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous [@pasqualucciHypermutationMultipleProtooncogenes2001a]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -57,4 +62,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 57 | 62 | <!-- DLBCL: pasqualucciHypermutationMultipleProtooncogenes2001a --> |
| 58 | 63 | |
| 59 | 64 | ## References |
| 60 | -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 |
|
| 65 | + |
PC.md
| ... | ... | @@ -1,7 +1,12 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # PC |
| 2 | 7 | |
| 3 | 8 | Due to [minimal support](PC#representative-mutations) in the original primary data, [low expression in BL](PC#pc-expression) and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL. |
| 4 | - |
|
| 9 | +<<Warn("The variants reported in this gene in BL failed QC")>> |
|
| 5 | 10 | |
| 6 | 11 | ## History |
| 7 | 12 | ```mermaid |
| ... | ... | @@ -15,7 +20,7 @@ timeline |
| 15 | 20 | |
| 16 | 21 | |Entity|Tier|Description | |
| 17 | 22 | |:------:|:----:|--------------------------------------| |
| 18 | -| |2-F |Failed QC| |
|
| 23 | +| |2-F |Failed QC[@loveGeneticLandscapeMutations2012]| |
|
| 19 | 24 | |
| 20 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 21 | 26 | |
| ... | ... | @@ -66,4 +71,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/P |
| 66 | 71 | [742](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/742_reports.html) |
| 67 | 72 | |
| 68 | 73 | ## References |
| 69 | -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 |
|
| 74 | + |