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

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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	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

pathology	Collection	N	mutated	Incidence	CI
BL	GAMBL without Panea	309	34	0.1046	[0.0706,0.1386]
BL	GAMBL without ICGC/Zhou	320	30	0.0936	[0.0617,0.1255]
BL	GAMBL with Panea	410	44	0.1032	[0.0738,0.1325]
BL	BLGSP	219	20	0.0913	[0.0532,0.1295]
BL	Zhou/ICGC	90	14	0.1556	[0.0807,0.2304]
BL	Panea	101	10	0.0990	[0.0408,0.1573]

Mutation pattern and selective pressure estimates

Entity	Missense dN/dS	Nonsense dN/dS	Q value
BL	18.2112	18.3847	0.0000
FL	2.3412	0.0000	1.0000
DLBCL	1.7975	0.3703	0.9986

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

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

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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