Table of Contents

Overview

Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.1

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of ADAMTS1 mutations in DLBCL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 31 0.0285 [0.0186,0.0383]
DLBCL GAMBL with Reddy 2,088 48 0.0230 [0.0166,0.0294]
DLBCL BC 231 5 0.0216 [0.0029,0.0404]
DLBCL Dana-Farber 303 9 0.0297 [0.0106,0.0488]
DLBCL NCI 470 16 0.0340 [0.0176,0.0504]
DLBCL Reddy 999 17 0.0170 [0.009,0.025]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

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 2 0.0122 [0,0.029]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 0 0.0010 [0,0.0073]

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]

MCL

pathology Collection N mutated Incidence CI
MCL GAMBL 160 3 0.0187 [0,0.0397]
MCL BC_MCL 103 2 0.0194 [0,0.0461]
MCL Barcelona 57 1 0.0175 [0,0.0516]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.339 0 1.0000
FL 0.324 0 1.0000
DLBCL 0.000 0 0.9986

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Expression

All Mutations

SP116676 SP116697 SP193337

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2021-05-05 : Hübschmann : DLBCL

References

1.
Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491

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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