Table of Contents

Overview

Mutations in BL were first described by Grande et al.1

Experimental Evidence

Driver mutations affecting this gene in BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).toncUnexpectedSuppressionTumorigenesis2021?

Relevance tier by entity

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 12 0.0110 [0.0048,0.0172]
DLBCL GAMBL with Reddy 2,088 16 0.0077 [0.0039,0.0114]
DLBCL BC 231 0 0.0004 [0,0.0031]
DLBCL Dana-Farber 303 5 0.0165 [0.0022,0.0308]
DLBCL NCI 470 7 0.0149 [0.0039,0.0258]
DLBCL Reddy 999 4 0.0040 [1e-04,0.0079]
DLBCL DLBCL_ICGC 85 0 0.0012 [0,0.0085]
pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 33 0.1056 [0.0713,0.1398]
BL GAMBL without ICGC/Zhou 320 35 0.1090 [0.0748,0.1431]
BL GAMBL with Panea 410 43 0.1039 [0.0744,0.1334]
BL BLGSP 219 25 0.1142 [0.072,0.1563]
BL Zhou/ICGC 90 8 0.0889 [0.0301,0.1477]
BL Panea 101 10 0.0990 [0.0408,0.1573]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 38.8559 111.7943 0.0000
FL 0.7840 0.0000 1.0000
DLBCL 1.4614 1.8893 0.9986

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Expression

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References

1.
Grande BM, Gerhard DS, Jiang A, Griner NB, Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K, Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA, Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL, He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE, Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG, Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J, Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH, Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood. 2019;133(12):1313–1324. PMCID: PMC6428665

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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