Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | High-confidence BL gene | |
| 3 | Mutations are unlikely to be relevant to DLBCL |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 18 | 0.0165 | [0.009,0.0241] |
| DLBCL | GAMBL with Reddy | 2,088 | 32 | 0.0153 | [0.0101,0.0206] |
| DLBCL | BC | 231 | 6 | 0.0260 | [0.0055,0.0465] |
| DLBCL | Dana-Farber | 303 | 3 | 0.0099 | [0,0.021] |
| DLBCL | NCI | 470 | 7 | 0.0149 | [0.0039,0.0258] |
| DLBCL | Reddy | 999 | 14 | 0.0140 | [0.0067,0.0213] |
| DLBCL | DLBCL_ICGC | 85 | 2 | 0.0235 | [0,0.0558] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 25 | 0.0716 | [0.043,0.1002] |
| BL | GAMBL without ICGC/Zhou | 320 | 19 | 0.0594 | [0.0335,0.0853] |
| BL | GAMBL with Panea | 410 | 31 | 0.0682 | [0.0439,0.0925] |
| BL | BLGSP | 219 | 13 | 0.0594 | [0.0281,0.0907] |
| BL | Zhou/ICGC | 90 | 12 | 0.1333 | [0.0631,0.2036] |
| BL | Panea | 101 | 6 | 0.0594 | [0.0133,0.1055] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 19.7667 | 270.5512 | 0 |
| FL | 17.1091 | 44.1763 | 0 |
| DLBCL | 4.8408 | 43.8971 | 0 |
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Expression
All Mutations
Reddy_2135T Reddy_2190T Reddy_2191T Reddy_2470T Reddy_2475T Reddy_2482T Reddy_2628T Reddy_2764T Reddy_2778T Reddy_2788T Reddy_3403T Reddy_3422T Reddy_3508T Reddy_3548T Reddy_3557T Reddy_3603T Reddy_3725T Reddy_3955T Reddy_823T
History
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timeline
title Publication timing
2017-10-10 : Reddy : DLBCL
2023-02-03 : Thomas : BL
References
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. PMCID: PMC5659841
2.
Thomas N, Dreval K, Gerhard DS, Hilton LK,
Abramson JS, Ambinder RF, Barta S, Bartlett NL, Bethony J, Bhatia K,
Bowen J, Bryan AC, Cesarman E, Casper C, Chadburn A, Cruz M, Dittmer DP,
Dyer MA, Farinha P, Gastier-Foster JM, Gerrie AS, Grande BM, Greiner T,
Griner NB, Gross TG, Harris NL, Irvin JD, Jaffe ES, Henry D, Huppi R,
Leal FE, Lee MS, Martin JP, Martin MR, Mbulaiteye SM, Mitsuyasu R,
Morris V, Mullighan CG, Mungall AJ, Mungall K, Mutyaba I, Nokta M,
Namirembe C, Noy A, Ogwang MD, Omoding A, Orem J, Ott G, Petrello H,
Pittaluga S, Phelan JD, Ramos JC, Ratner L, Reynolds SJ, Rubinstein PG,
Sissolak G, Slack G, Soudi S, Swerdlow SH, Traverse-Glehen A, Wilson WH,
Wong J, Yarchoan R, ZenKlusen JC, Marra MA, Staudt LM, Scott DW, Morin
RD. Genetic subgroups inform on pathobiology in adult and pediatric
Burkitt lymphoma. Blood. 2023 Feb 23;141(8):904–916. PMCID:
PMC10023728


