ABI3BP.md
... ...
@@ -2,6 +2,12 @@
2 2
## History
3 3
Mutations were first described in DLBCL in 2013 by Morin et al.<sup>1</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.
4 4
5
+```mermaid
6
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
7
+timeline
8
+ title Publication timing
9
+ 2013-08-15 : Morin : DLBCL
10
+```
5 11
## Relevance tier by entity
6 12
7 13
|Entity|Tier|Description |
ABL2.md
... ...
@@ -1,5 +1,11 @@
1 1
# ABL2
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2023-07-26 : Russler : FL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
ACE.md
... ...
@@ -1,5 +1,11 @@
1 1
# ACE
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2012-12-01 : Love : BL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
ACTB.md
... ...
@@ -2,7 +2,14 @@
2 2
## Overview
3 3
4 4
ACTB is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas.
5
-
5
+## History
6
+```mermaid
7
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
8
+timeline
9
+ title Publication timing
10
+ 2012-03-06 : Lohr : DLBCL
11
+ 2019-12-10 : Wienand : PMBL
12
+```
6 13
## Relevance tier by entity
7 14
8 15
|Entity|Tier|Description |
ACTG1.md
... ...
@@ -4,6 +4,14 @@
4 4
## History
5 5
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.<sup>1</sup>
6 6
7
+```mermaid
8
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
9
+timeline
10
+ title Publication timing
11
+ 2016-09-08 : Spina : MZL
12
+ 2019-08-20 : Desch : PMBL
13
+ 2021-05-05 : H : DLBCL
14
+```
7 15
## Relevance tier by entity
8 16
9 17
|Entity|Tier|Description |
ADAMTS1.md
... ...
@@ -3,6 +3,12 @@
3 3
## History
4 4
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.<sup>1</sup>
5 5
6
+```mermaid
7
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
8
+timeline
9
+ title Publication timing
10
+ 2021-05-05 : H : DLBCL
11
+```
6 12
## Relevance tier by entity
7 13
8 14
|Entity|Tier|Description |
ADAMTS5.md
... ...
@@ -1,5 +1,11 @@
1 1
# ADAMTS5
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2022-07-06 : Burkhardt : BL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
ADNP.md
... ...
@@ -1,5 +1,11 @@
1 1
# ADNP
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2022-07-06 : Burkhardt : BL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
AGO4.md
... ...
@@ -1,5 +1,11 @@
1 1
# AGO4
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2022-07-06 : Burkhardt : BL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
AICDA.md
... ...
@@ -1,5 +1,11 @@
1 1
# AICDA
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2018-10-01 : Arthur : DLBCL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
ALPK2.md
... ...
@@ -1,5 +1,11 @@
1 1
# ALPK2
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2019-09-26 : Panea : BL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
ANK2.md
... ...
@@ -1,5 +1,11 @@
1 1
# ANK2
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2014-05-08 : Zhang : MCL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
ANKRD12.md
... ...
@@ -3,6 +3,12 @@
3 3
## History
4 4
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.<sup>1</sup>
5 5
6
+```mermaid
7
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
8
+timeline
9
+ title Publication timing
10
+ 2021-05-05 : H : DLBCL
11
+```
6 12
## Relevance tier by entity
7 13
8 14
|Entity|Tier|Description |
ANKRD17.md
... ...
@@ -2,6 +2,12 @@
2 2
## History
3 3
Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup>1</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.
4 4
5
+```mermaid
6
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
7
+timeline
8
+ title Publication timing
9
+ 2017-10-10 : Reddy : DLBCL
10
+```
5 11
## Relevance tier by entity
6 12
7 13
|Entity|Tier|Description |
ARHGEF1.md
... ...
@@ -1,5 +1,11 @@
1 1
# ARHGEF1
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2014-12-11 : Muppidi : BL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
ARID1B.md
... ...
@@ -2,6 +2,12 @@
2 2
## History
3 3
Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup>1</sup>
4 4
5
+```mermaid
6
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
7
+timeline
8
+ title Publication timing
9
+ 2017-10-10 : Reddy : DLBCL
10
+```
5 11
## Relevance tier by entity
6 12
7 13
|Entity|Tier|Description |
ARID5B.md
... ...
@@ -5,6 +5,13 @@ Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup
5 5
> [!WARNING]
6 6
> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
7 7
8
+```mermaid
9
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
10
+timeline
11
+ title Publication timing
12
+ 2017-10-10 : Reddy : DLBCL
13
+ 2023-11-15 : Gomez : PMBL
14
+```
8 15
## Relevance tier by entity
9 16
10 17
|Entity|Tier|Description |
ATP6V1A.md
... ...
@@ -3,6 +3,12 @@
3 3
## History
4 4
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.<sup>1</sup>
5 5
6
+```mermaid
7
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
8
+timeline
9
+ title Publication timing
10
+ 2021-05-05 : H : FL
11
+```
6 12
## Relevance tier by entity
7 13
8 14
|Entity|Tier|Description |
ATR.md
... ...
@@ -2,6 +2,12 @@
2 2
## History
3 3
Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup>1</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.
4 4
5
+```mermaid
6
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
7
+timeline
8
+ title Publication timing
9
+ 2017-10-10 : Reddy : DLBCL
10
+```
5 11
## Relevance tier by entity
6 12
7 13
|Entity|Tier|Description |
B2M.md
... ...
@@ -4,7 +4,16 @@
4 4
## Overview
5 5
6 6
The B2M (β2-microglobulin) gene plays a crucial role in the function of the major histocompatibility complex (MHC) class I molecules, which are essential for immune system recognition of infected or malignant cells. B2M mutations in B-cell lymphomas, particularly in DLBCL and PMBCL, lead to reduced MHC class I expression, enabling tumor cells to evade immune detection and destruction by cytotoxic T cells.
7
-
7
+## History
8
+
9
+```mermaid
10
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
11
+timeline
12
+ title Publication timing
13
+ 2011-07-27 : Morin : FL
14
+ 2015-02-12 : Reichel : PMBL
15
+ 2020-07-30 : Pararajalingam : MCL
16
+```
8 17
## Relevance tier by entity
9 18
10 19
|Entity|Tier|Description |
... ...
@@ -78,9 +87,14 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/B
78 87
![image](images/gene_expression/B2M_by_pathology.svg)
79 88
80 89
81
-## References
82
-1. *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.*<!-- ORIGIN: morinFrequentMutationHistonemodifying2011 -->
90
+
91
+
92
+<!-- ORIGIN: morinFrequentMutationHistonemodifying2011 -->
83 93
<!-- PMBL: reichelFlowSortingExome2015a -->
84 94
<!-- FL: morinFrequentMutationHistonemodifying2011 -->
85 95
<!-- MCL: pararajalingamCodingNoncodingDrivers2020 -->
86 96
<!-- DLBCL: morinFrequentMutationHistonemodifying2011 -->
97
+## References
98
+1. 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 SJM, 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. PMCID: PMC3210554
99
+2. Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072. PMID: 25488972
100
+3. 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. PMCID: PMC7440974
BACH2.md
... ...
@@ -2,6 +2,12 @@
2 2
## History
3 3
Mutations in this gene were first described in BL in 2019 by Grande et al.<sup>1</sup>
4 4
5
+```mermaid
6
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
7
+timeline
8
+ title Publication timing
9
+ 2019-03-21 : Grande : BL
10
+```
5 11
## Relevance tier by entity
6 12
7 13
|Entity|Tier|Description |
BCL2.md
... ...
@@ -3,6 +3,15 @@
3 3
4 4
BCL2 mutations are frequently found in DLBCL, particularly in the germinal center B-cell (GCB) subtype, and are often located in the flexible loop domain and outside the BCL2-homology domains. These mutations are caused by the somatic hypermutation process.<sup>1</sup> The presence of these mutations are strongly correlated with the presence of a translocation between BCL2 and one of the immunoglobulin loci. <sup>2</sup> Although missense mutations may not be under positive selective pressure in the context of lymphomagenesis, some of these mutations may interfere with the function of BCL2 antagonists.<sup>3</sup>
5 5
6
+```mermaid
7
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
8
+timeline
9
+ title Publication timing
10
+ 1992-01-01 : Tanaka : DLBCL
11
+ 2011-07-27 : Morin : FL
12
+ 2021-04-01 : Sarkozy : PMBL
13
+ 2022-07-06 : Burkhardt : BL
14
+```
6 15
## Relevance tier by entity
7 16
8 17
|Entity|Tier|Description |
... ...
@@ -68,16 +77,17 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/B
68 77
69 78
![image](images/proteinpaint/BCL2.svg)
70 79
71
-## References
72 80
73
-1. *Schuetz JM, Johnson NA, Morin RD, Scott DW, Tan K, Ben-Nierah S, Boyle M, Slack GW, Marra MA, Connors JM, Brooks-Wilson AR, Gascoyne RD. BCL2 mutations in diffuse large B-cell lymphoma. Leukemia. 2012 Jun;26(6):1383-90. doi: 10.1038/leu.2011.378. Epub 2011 Dec 22. PMID: 22189900.*
74
-2. *Hilton L et al. Motive and Opportunity: MYC rearrangements in high-grade B-cell lymphoma with MYC
75
-and BCL2 rearrangements-an LLMPP study. Blood. 2024. Epub May 3.*
76
-3. *Singh K, Briggs JM. Functional Implications of the spectrum of BCL2 mutations in Lymphoma. Mutat Res Rev Mutat Res. 2016 Jul-Sep;769:1-18. doi: 10.1016/j.mrrev.2016.06.001. Epub 2016 Jun 16. PMID: 27543313.*
77 81
## BCL2 Expression
78 82
![image](images/gene_expression/BCL2_by_pathology.svg)
83
+
79 84
<!-- ORIGIN: 1339299 -->
80 85
<!-- FL: morinFrequentMutationHistonemodifying2011 -->
81 86
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
82 87
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
83 88
<!-- DLBCL: tanakaFrequentIncidenceSomatic1992 -->
89
+## References
90
+1. Tanaka S, Louie DC, Kant JA, Reed JC. Frequent incidence of somatic mutations in translocated BCL2 oncogenes of non-Hodgkin’s lymphomas. Blood. 1992 Jan 1;79(1):229–237. PMID: 1339299
91
+2. 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 SJM, 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. PMCID: PMC3210554
92
+3. Sarkozy C, Hung SS, Chavez EA, Duns G, Takata K, Chong LC, Aoki T, Jiang A, Miyata-Takata T, Telenius A, Slack GW, Molina TJ, Ben-Neriah S, Farinha P, Dartigues P, Damotte D, Mottok A, Salles GA, Casasnovas RO, Savage KJ, Laurent C, Scott DW, Traverse-Glehen A, Steidl C. Mutational landscape of gray zone lymphoma. Blood. 2021 Apr 1;137(13):1765–1776. PMID: 32961552
93
+4. 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
BCL6.md
... ...
@@ -4,6 +4,13 @@
4 4
5 5
BCL6 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. Although common, particularly in DLBCL, the function of many of these mutations remains unclear but some have been shown to affect the regulation of BCL6 expression.<sup>1,2</sup> The role of BCL6 missense mutations, seen over 9% of patients,<sup>3</sup> remains unclear.
6 6
7
+```mermaid
8
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
9
+timeline
10
+ title Publication timing
11
+ 2011-07-27 : Morin : DLBCL
12
+ 2012-12-01 : Love : BL
13
+```
7 14
## Relevance tier by entity
8 15
9 16
|Entity|Tier|Description |
... ...
@@ -69,13 +76,11 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/B
69 76
70 77
![image](images/proteinpaint/BCL6.svg)
71 78
72
-## References
73
-
74
-1. *Pasqualucci L, Migliazza A, Basso K, Houldsworth J, Chaganti RS, Dalla-Favera R. Mutations of the BCL6 proto-oncogene disrupt its negative autoregulation in diffuse large B-cell lymphoma. Blood. 2003 Apr 15;101(8):2914-23. doi: 10.1182/blood-2002-11-3387. Epub 2002 Dec 19. PMID: 12515714.*
75
-2. *Bal E, Kumar R, Hadigol M, Holmes AB, Hilton LK, Loh JW, Dreval K, Wong JCH, Vlasevska S, Corinaldesi C, Soni RK, Basso K, Morin RD, Khiabanian H, Pasqualucci L, Dalla-Favera R. Super-enhancer hypermutation alters oncogene expression in B cell lymphoma. Nature. 2022 Jul;607(7920):808-815. doi: 10.1038/s41586-022-04906-8. Epub 2022 Jul 6. Erratum in: Nature. 2022 Nov;611(7934):E2. PMID: 35794478; PMCID: PMC9583699.*
76
-3. *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. doi: 10.1056/NEJMoa1801445. PMID: 29641966; PMCID: PMC6010183.*
77 79
## BCL6 Expression
78 80
![image](images/gene_expression/BCL6_by_pathology.svg)
79 81
<!-- ORIGIN: 21796119 -->
80 82
<!-- BL: loveGeneticLandscapeMutations2012 -->
81 83
<!-- DLBCL: morinFrequentMutationHistonemodifying2011 -->
84
+## References
85
+1. 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 SJM, 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. PMCID: PMC3210554
86
+2. 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
BCL7A.md
... ...
@@ -7,6 +7,15 @@ BCL7A protein interacts with components of the SWI/SNF chromatin remodeling comp
7 7
Mutations in this gene were first described in FL in 2017 by Krysiak et al.<sup>3</sup> Mutations were described in DLBCL in 2018 by Arthur et al<sup>4</sup> and in BL in 2019 by Grande et al.<sup>5</sup>
8 8
9 9
10
+```mermaid
11
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
12
+timeline
13
+ title Publication timing
14
+ 2015-02-12 : Reichel : PMBL
15
+ 2017-01-26 : Krysiak : FL
16
+ 2018-10-01 : Arthur : DLBCL
17
+ 2019-03-21 : Grande : BL
18
+```
10 19
## Relevance tier by entity
11 20
12 21
|Entity|Tier|Description |
... ...
@@ -57,17 +66,21 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/B
57 66
## BCL7A Expression
58 67
![image](images/gene_expression/BCL7A_by_pathology.svg)
59 68
60
-## References
61
-1. *Ramos-Medina R, Montes-Moreno S, Maestre L, Cañamero M, Rodríguez-Pinilla M, Martínez-Torrecuadrada J, Piris MÁ, Majid A, Dyer MJ, Pulford K, Roncador G. BCL7A protein expression in normal and malignant lymphoid tissues. Br J Haematol. 2013 Jan;160(1):106-9. doi: 10.1111/bjh.12080. Epub 2012 Oct 9. PMID: 23043359.*
62
-2. *Baliñas-Gavira C, Rodríguez MI, Andrades A, Cuadros M, Álvarez-Pérez JC, Álvarez-Prado ÁF, de Yébenes VG, Sánchez-Hernández S, Fernández-Vigo E, Muñoz J, Martín F, Ramiro AR, Martínez-Climent JA, Medina PP. Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL. Leukemia. 2020 Oct;34(10):2722-2735. doi: 10.1038/s41375-020-0919-5. Epub 2020 Jun 24. PMID: 32576963.*
63
-3. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
64
-4. 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
65
-
66
-5. *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. doi: 10.1182/blood-2018-09-871418. Epub 2019 Jan 7. PMID: 30617194; PMCID: PMC6428665.*
67
-
68 69
69 70
<!-- ORIGIN: 30275490 -->
70 71
<!-- BL: grandeGenomewideDiscoverySomatic2019 -->
71 72
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
72 73
<!-- BL: grandeGenomewideDiscoverySomatic2019 -->
73 74
<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->
75
+## References
76
+1. Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072. PMID: 25488972
77
+2. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
78
+3. 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
79
+4. 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.
80
+5. *Ramos-Medina R, Montes-Moreno S, Maestre L, Cañamero M, Rodríguez-Pinilla M, Martínez-Torrecuadrada J, Piris MÁ, Majid A, Dyer MJ, Pulford K, Roncador G. BCL7A protein expression in normal and malignant lymphoid tissues. Br J Haematol. 2013 Jan;160(1):106-9. doi: 10.1111/bjh.12080. Epub 2012 Oct 9. PMID: 23043359.*
81
+6. *Baliñas-Gavira C, Rodríguez MI, Andrades A, Cuadros M, Álvarez-Pérez JC, Álvarez-Prado ÁF, de Yébenes VG, Sánchez-Hernández S, Fernández-Vigo E, Muñoz J, Martín F, Ramiro AR, Martínez-Climent JA, Medina PP. Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL. Leukemia. 2020 Oct;34(10):2722-2735. doi: 10.1038/s41375-020-0919-5. Epub 2020 Jun 24. PMID: 32576963.*
82
+7. 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
83
+
84
+
85
+
86
+
GNAI2.md
... ...
@@ -5,6 +5,13 @@ Mutations in the GNAI2 gene, which encodes the G protein alpha subunit involved
5 5
## History
6 6
Mutations were first described in DLBCL in 2013 by Morin et al<sup>1</sup> and in BL in 2019 by Grande et al.<sup>2</sup>
7 7
8
+```mermaid
9
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
10
+timeline
11
+ title Publication timing
12
+ 2013-08-15 : Morin : DLBCL
13
+ 2019-03-21 : Grande : BL
14
+```
8 15
## Relevance tier by entity
9 16
10 17
|Entity|Tier|Description |
GNAS.md
... ...
@@ -1,5 +1,11 @@
1 1
# GNAS
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2017-10-10 : Reddy : DLBCL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
... ...
@@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/G
39 45
![image](images/gene_expression/GNAS_by_pathology.svg)
40 46
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
41 47
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
48
+## References
49
+1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
GPC5.md
... ...
@@ -1,5 +1,11 @@
1 1
# GPC5
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2018-04-12 : Schmitz : DLBCL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
... ...
@@ -39,3 +45,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/G
39 45
![image](images/gene_expression/GPC5_by_pathology.svg)
40 46
<!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a -->
41 47
<!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a -->
48
+## References
49
+1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183
GRM6.md
... ...
@@ -1,5 +1,11 @@
1 1
# GRM6
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2023-07-26 : Russler : FL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
... ...
@@ -36,3 +42,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/G
36 42
![image](images/gene_expression/GRM6_by_pathology.svg)
37 43
<!-- ORIGIN: russler-germainMutationsAssociatedProgression2023a -->
38 44
<!-- FL: russler-germainMutationsAssociatedProgression2023a -->
45
+## References
46
+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.
GTSE1.md
... ...
@@ -1,5 +1,11 @@
1 1
# GTSE1
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2012-10-04 : Schmitz : BL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
... ...
@@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/G
38 44
![image](images/gene_expression/GTSE1_by_pathology.svg)
39 45
<!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 -->
40 46
<!-- BL: schmitzBurkittLymphomaPathogenesis2012 -->
47
+## References
48
+1. Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867
KIR3DL1.md
... ...
@@ -1,5 +1,11 @@
1 1
# KIR3DL1
2
-
2
+## History
3
+```mermaid
4
+%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
5
+timeline
6
+ title Publication timing
7
+ 2023-07-26 : Russler : FL
8
+```
3 9
## Relevance tier by entity
4 10
5 11
|Entity|Tier|Description |
... ...
@@ -36,3 +42,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/K
36 42
![image](images/gene_expression/KIR3DL1_by_pathology.svg)
37 43
<!-- ORIGIN: russler-germainMutationsAssociatedProgression2023a -->
38 44
<!-- FL: russler-germainMutationsAssociatedProgression2023a -->
45
+## References
46
+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.