Table of Contents
Overview
Mutations in this gene were first described in BL in 2012 by Love et al1 and subsequently in DLBCL by Reddy et al.2 Subsequent exome and genome-wide studies of DLBCL and BL did not reproduce these observations.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in BL not firmly established1 | |
| 2 | relevance in DLBCL not firmly established2 |
Warnings
The variants reported in this gene in DLBCL failed QC
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.54 |
| BL | Thomas cohort | NA |
| BL | Panea cohort | NA |
| DLBCL | GAMBL genomes | 0.57 |
| DLBCL | Schmitz cohort | 0.64 |
| DLBCL | Reddy cohort | 0.70 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
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Expression
Representative Mutations
BL
Rating ★ ★ ★ ☆
☆
DLBCL
Rating ★ ☆ ☆ ☆
☆
All Mutations
BL
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References
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
2.
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


