Table of Contents

Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL gene1
PMBL 1 high-confidence PMBL/cHL/GZL gene2
DLBCL 1 high-confidence DLBCL gene3–5

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Cannot include /DLBCL_SPEN.md - does not exist yet

Mutation pattern and selective pressure estimates

Cannot include /dnds_SPEN.md - does not exist yet

SPEN Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 16256846 C>T R1371*
chr1 16261814 C>T R3027*

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

SPEN Expression

Cannot include /mermaid_SPEN.md - does not exist yet

References

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Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183

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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