Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of FAT4 mutations in DLBCL requires confirmation | |
| 2 | Role of FAT4 mutations in MCL requires confirmation | |
| 2 | Role of FAT4 mutations in MZL requires confirmation | |
| 2 | Role of FAT4 mutations in PMBL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
MCL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| MCL | GAMBL | 160 | 6 | 0.0374 | [0.008,0.0668] |
| MCL | BC_MCL | 103 | 4 | 0.0388 | [0.0015,0.0761] |
| MCL | Barcelona | 57 | 2 | 0.0351 | [0,0.0829] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 0 | 0 | [0,0] |
| BL | GAMBL without ICGC/Zhou | 320 | 0 | 0 | [0,0] |
| BL | GAMBL with Panea | 410 | 0 | 0 | [0,0] |
| BL | BLGSP | 219 | 0 | 0 | [0,0] |
| BL | Zhou/ICGC | 90 | 0 | 0 | [0,0] |
| BL | Panea | 101 | 0 | 0 | [0,0] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 45 | 0.0701 | [0.0503,0.0898] |
| FL | GAMBL with Crouch | 1,189 | 105 | 0.0883 | [0.0722,0.1044] |
| FL | BC | 379 | 25 | 0.0660 | [0.041,0.091] |
| FL | Kalmbach | 164 | 14 | 0.0854 | [0.0426,0.1281] |
| FL | Crouch | 547 | 60 | 0.1097 | [0.0835,0.1359] |
| FL | FL_ICGC | 99 | 6 | 0.0606 | [0.0136,0.1076] |
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 184 | 0.1690 | [0.1467,0.1912] |
| DLBCL | GAMBL with Reddy | 2,088 | 333 | 0.1595 | [0.1438,0.1752] |
| DLBCL | BC | 231 | 23 | 0.0996 | [0.061,0.1382] |
| DLBCL | Dana-Farber | 303 | 53 | 0.1749 | [0.1321,0.2177] |
| DLBCL | NCI | 470 | 96 | 0.2043 | [0.1678,0.2407] |
| DLBCL | Reddy | 999 | 149 | 0.1491 | [0.1271,0.1712] |
| DLBCL | DLBCL_ICGC | 85 | 12 | 0.1412 | [0.0672,0.2152] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 1.9231 | 0.9844 | 1.0000 |
| FL | 0.9681 | 1.1156 | 1.0000 |
| DLBCL | 0.0000 | 0.0000 | 0.9986 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
All Mutations
DLBCL
RG014 RG038 RG043 RG055 RG077 RG081 RG111
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2013-08-15 : Morin : DLBCL
2013-12-13 : Parry : MZL
2014-05-08 : Zhang : MCL
References
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
2.
Parry M, Rose-Zerilli MJJ, Gibson J, Ennis S,
Walewska R, Forster J, Parker H, Davis Z, Gardiner A, Collins A, Oscier
DG, Strefford JC. Whole exome sequencing identifies novel recurrently
mutated genes in patients with splenic marginal zone lymphoma. PLoS One.
2013;8(12):e83244. PMCID: PMC3862727
3.
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.


