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
BL 2 Role of CDC73 mutations in BL requires confirmation
DLBCL 3 Mutations are unlikely to be relevant to DLBCL

Warnings

The variants reported in this gene in DLBCL failed QC

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 7 0.0064 [0.0017,0.0112]
DLBCL GAMBL with Reddy 2,088 14 0.0067 [0.0032,0.0102]
DLBCL BC 231 1 0.0043 [0,0.0128]
DLBCL Dana-Farber 303 3 0.0099 [0,0.021]
DLBCL NCI 470 3 0.0064 [0,0.0136]
DLBCL Reddy 999 7 0.0070 [0.0018,0.0122]
DLBCL DLBCL_ICGC 85 0 0.0012 [0,0.0085]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 3 0.0047 [-6e-04,0.0099]
FL GAMBL with Crouch 1,189 3 0.0025 [-3e-04,0.0054]
FL BC 379 1 0.0026 [0,0.0078]
FL Kalmbach 164 1 0.0061 [0,0.018]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 1 0.0101 [0,0.0298]

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]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 5.3619 0 1.0000
FL 1.4032 0 1.0000
DLBCL 0.0000 0 0.9986

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

Representative Mutations

BL

Rating ★ ★ ★ ☆ ☆

DLBCL

Rating ★ ☆ ☆ ☆ ☆

All Mutations

BL

1065 1065 847

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-12-01 : Love : BL 2017-10-10 : Reddy : DLBCL

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

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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