Table of Contents

Overview

SMARCA4 is a member of the SWI/SNF family of proteins. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which can allow expression of genes repressed by chromatin. Overall, components of SWI/SNF have been identified as an emerging theme in germinal centre-derived B-cell lymphomas.1

Experimental Evidence

Driver mutations affecting this gene in DLBCL/FL/BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).2

Relevance tier by entity

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 27 0.0248 [0.0156,0.034]
DLBCL GAMBL with Reddy 2,088 60 0.0287 [0.0216,0.0359]
DLBCL BC 231 5 0.0216 [0.0029,0.0404]
DLBCL Dana-Farber 303 5 0.0165 [0.0022,0.0308]
DLBCL NCI 470 14 0.0298 [0.0144,0.0452]
DLBCL Reddy 999 33 0.0330 [0.022,0.0441]
DLBCL DLBCL_ICGC 85 3 0.0353 [0,0.0745]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 25 0.0389 [0.024,0.0539]
FL GAMBL with Crouch 1,189 64 0.0538 [0.041,0.0667]
FL BC 379 13 0.0343 [0.016,0.0526]
FL Kalmbach 164 9 0.0549 [0.02,0.0897]
FL Crouch 547 39 0.0713 [0.0497,0.0929]
FL FL_ICGC 99 3 0.0303 [0,0.0641]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 76 0.2245 [0.1791,0.2698]
BL GAMBL without ICGC/Zhou 320 58 0.1812 [0.139,0.2234]
BL GAMBL with Panea 410 95 0.2150 [0.176,0.2539]
BL BLGSP 219 39 0.1781 [0.1274,0.2288]
BL Zhou/ICGC 90 37 0.4111 [0.3095,0.5128]
BL Panea 101 19 0.1881 [0.1119,0.2643]

MCL

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Mutation pattern and selective pressure estimates

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Expression

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References

1.
Lunning MA, Green MR. Mutation of chromatin modifiers; an emerging hallmark of germinal center B-cell lymphomas. Blood Cancer J. 2015 Oct 16;5(10):e361. PMCID: PMC4635197
2.
Fernando TM, Piskol R, Bainer R, Sokol ES, Trabucco SE, Zhang Q, Trinh H, Maund S, Kschonsak M, Chaudhuri S, Modrusan Z, Januario T, Yauch RL. Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients. Nat Commun. 2020 Nov 3;11(1):5551. PMCID: PMC7609548
3.
Deng Q, Lakra P, Gou P, Yang H, Meydan C, Teater M, Chin C, Zhang W, Dinh T, Hussein U, Li X, Rojas E, Liu W, Reville PK, Kizhakeyil A, Barisic D, Parsons S, Wilson A, Henderson J, Scull B, Gurumurthy C, Vega F, Chadburn A, Cuglievan B, El-Mallawany NK, Allen C, Mason C, Melnick A, Green MR. SMARCA4 is a haploinsufficient B cell lymphoma tumor suppressor that fine-tunes centrocyte cell fate decisions. Cancer Cell. 2024 Apr 8;42(4):605–622.e11. PMCID: PMC11003852
4.
Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
5.
Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3879–3884. PMCID: PMC3309757
6.
Nadeu F, Martín-García D, Clot G, Díaz-Navarro A, Duran-Ferrer M, Navarro A, Vilarrasa-Blasi R, Kulis M, Royo R, Gutiérrez-Abril J, Valdés-Mas R, López C, Chapaprieta V, Puiggrós M, Castellano G, Costa D, Aymerich M, Jares P, Espinet B, Muntañola A, Ribera‐Cortada I, Siebert R, Colomer D, Torrents D, Giné E, López-Guillermo A, Küppers R, Martín-Subero J, Puente X, Beà S, Campo E. Genomic and epigenomic insights into the origin, pathogenesis and clinical behavior of mantle cell lymphoma subtypes. Blood. 2020;
7.
Richter J, Schlesner M, Hoffmann S, Kreuz M, Leich E, Burkhardt B, Rosolowski M, Ammerpohl O, Wagener R, Bernhart SH, Lenze D, Szczepanowski M, Paulsen M, Lipinski S, Russell RB, Adam-Klages S, Apic G, Claviez A, Hasenclever D, Hovestadt V, Hornig N, Korbel JO, Kube D, Langenberger D, Lawerenz C, Lisfeld J, Meyer K, Picelli S, Pischimarov J, Radlwimmer B, Rausch T, Rohde M, Schilhabel M, Scholtysik R, Spang R, Trautmann H, Zenz T, Borkhardt A, Drexler HG, Möller P, MacLeod RAF, Pott C, Schreiber S, Trümper L, Loeffler M, Stadler PF, Lichter P, Eils R, Küppers R, Hummel M, Klapper W, Rosenstiel P, Rosenwald A, Brors B, Siebert R, ICGC MMML-Seq Project. Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat Genet. 2012 Dec;44(12):1316–1320.

Citing

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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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