Table of Contents

Overview

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.1 Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of BRINP3 mutations in DLBCL requires confirmation

Warnings

In a subsequent reanalysis, the mutation rate in this gene was found to be inflated in the original results
Details2

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 36 0.0331 [0.0224,0.0437]
DLBCL GAMBL with Reddy 2,088 69 0.0330 [0.0254,0.0407]
DLBCL BC 231 6 0.0260 [0.0055,0.0465]
DLBCL Dana-Farber 303 12 0.0396 [0.0176,0.0616]
DLBCL NCI 470 16 0.0340 [0.0176,0.0504]
DLBCL Reddy 999 33 0.0330 [0.022,0.0441]
DLBCL DLBCL_ICGC 85 2 0.0235 [0,0.0558]

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 4.0232 0.0000 1.0000
FL 2.9281 2.2853 1.0000
DLBCL 0.0000 0.0000 0.9986

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

Representative Mutations

Rating ★ ★ ★ ★ ☆

Rating ★ ★ ☆ ☆ ☆

All Mutations

Reddy_2088T Reddy_2128T Reddy_2133T Reddy_2141T Reddy_2161T Reddy_2198T Reddy_2219T Reddy_2250T Reddy_2261T Reddy_2262T Reddy_2263T Reddy_2286T Reddy_2544T Reddy_2632T Reddy_2642T Reddy_2654T Reddy_2767T Reddy_2779T Reddy_2790T Reddy_2792T Reddy_2805T Reddy_2808T Reddy_2831T Reddy_2834T Reddy_2838T Reddy_2882T Reddy_2903T Reddy_2912T Reddy_2951T Reddy_3422T Reddy_3432T Reddy_3453T Reddy_3456T Reddy_3461T Reddy_3539T Reddy_3566T Reddy_3611T Reddy_3628T Reddy_3640T Reddy_3644T Reddy_3675T Reddy_3731T Reddy_3733T Reddy_3763T Reddy_3770T Reddy_3856T Reddy_3889T Reddy_3914T Reddy_3937T Reddy_3988T Reddy_3989T Reddy_695T

Source1

History

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

References

1.
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
2.
Dreval K, Cruz M, Rushton C, Liuta N, Mirhosseini HL, Brown C, Morin RD, Consortium the G. Revisiting Reddy: A DLBCL Do-over [Internet]. 2023 [cited 2024 Jan 24]. p. 2023.11.21.567983. Available from: https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1

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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