Table of Contents

Experimental Evidence

Driver mutations affecting this gene in BL have been experimentally demonstrated to cause a gain of function (GOF).1

Relevance tier by entity

Entity Tier Description
BL 1 High-confidence BL gene
PMBL 2 Role of TCF3 mutations in PMBL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 24 0.0220 [0.0133,0.0308]
DLBCL GAMBL with Reddy 2,088 50 0.0239 [0.0174,0.0305]
DLBCL BC 231 3 0.0130 [0,0.0276]
DLBCL Dana-Farber 303 6 0.0198 [0.0041,0.0355]
DLBCL NCI 470 15 0.0319 [0.016,0.0478]
DLBCL Reddy 999 26 0.0260 [0.0162,0.0359]
DLBCL DLBCL_ICGC 85 0 0.0012 [0,0.0085]

BL

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Mutation pattern and selective pressure estimates

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TCF3 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr19 1612366 A>T N551K
chr19 1612366 A>C N551K
chr19 1612349 A>T V557E
chr19 1612344 C>T V559M
chr19 1612337 T>A D561V
chr19 1612336 A>T D561E
chr19 1612336 A>C D561E
chr19 1612329 C>T E564K

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Expression

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References

1.
Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867

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