Table of Contents

Overview

BTG2 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Mutations in the BTG2 gene have been implicated in the pathogenesis of diffuse large B-cell lymphoma (DLBCL), contributing to the development and progression of the disease. These mutations are a feature of the MCD genetic subgroup of DLBCL. The biological function of BTG2 mutations and their role in lymphomagenesis remains poorly understood. Due to minimal support in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL.

Relevance tier by entity

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Warnings

The variants reported in this gene in BL failed QC

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 135 0.1240 [0.1044,0.1435]
DLBCL GAMBL with Reddy 2,088 227 0.1087 [0.0954,0.1221]
DLBCL BC 231 25 0.1082 [0.0682,0.1483]
DLBCL Dana-Farber 303 15 0.0495 [0.0251,0.0739]
DLBCL NCI 470 81 0.1723 [0.1382,0.2065]
DLBCL Reddy 999 92 0.0921 [0.0742,0.11]
DLBCL DLBCL_ICGC 85 14 0.1647 [0.0859,0.2436]
pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 24 0.0374 [0.0227,0.0521]
FL GAMBL with Crouch 1,189 56 0.0471 [0.0351,0.0591]
FL BC 379 16 0.0422 [0.022,0.0625]
FL Kalmbach 164 6 0.0366 [0.0079,0.0653]
FL Crouch 547 32 0.0585 [0.0388,0.0782]
FL FL_ICGC 99 2 0.0202 [0,0.0479]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 4.6558 28.1170 0.8221
FL 11.5940 10.6039 0.0000
DLBCL 1.2669 3.2915 0.0000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr1 203274698 203275778 intron active_promoter

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Expression

Representative Mutations

BL1

Rating ★ ★ ☆ ☆ ☆

All Mutations

BL1

1065 1098 321 323 323

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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.
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

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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