Table of Contents

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of TLR2 mutations in DLBCL requires confirmation
MCL 1 High-confidence MCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

MCL

pathology Collection N mutated Incidence CI
MCL GAMBL 160 0 0 [0,0]
MCL BC_MCL 103 0 0 [0,0]
MCL Barcelona 57 0 0 [0,0]

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 29 0.0266 [0.0171,0.0362]
DLBCL GAMBL with Reddy 2,088 44 0.0211 [0.0149,0.0272]
DLBCL BC 231 7 0.0303 [0.0082,0.0524]
DLBCL Dana-Farber 303 8 0.0264 [0.0083,0.0445]
DLBCL NCI 470 13 0.0277 [0.0128,0.0425]
DLBCL Reddy 999 15 0.0150 [0.0075,0.0226]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.8419 0 1.0000
FL 3.2249 0 1.0000
DLBCL 0.0000 0 0.9986

TLR2 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr4 154625039 A>T D327V
chr4 154625042 T>G L328R

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

All Mutations

DLBCL-RICOVER_1269-Tumor DLBCL-RICOVER_174-Tumor

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2013-11-05 : Bea : MCL 2018-05-01 : Chapuy : DLBCL

References

1.
Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. PNAS. 2013;110(45):18250–18255.
2.
Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387

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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