Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in PMBL/cHL/GZL not firmly established1 |
 |
2 | relevance in MZL not firmly established |
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous2 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.59 |
| DLBCL | Schmitz cohort | 5.96 |
| DLBCL | Reddy cohort | 4.40 |
| DLBCL | Chapuy cohort | 4.70 |
Mutation pattern and selective pressure estimates
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aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 16546433 | 16556786 | TSS | active_promoter-strong_enhancer |
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Expression
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References
1.
Duns
G, Viganò E, Ennishi D, Sarkozy C, Hung SS, Chavez E, Takata K, Rushton
C, Jiang A, Ben-Neriah S, Woolcock BW, Slack GW, Hsi ED, Craig JW,
Hilton LK, Shah SP, Farinha P, Mottok A, Gascoyne RD, Morin RD, Savage
KJ, Scott DW, Steidl C. Characterization of
DLBCL with a PMBL gene expression
signature. Blood. 2021 Jul 15;138(2):136–148.
2.
Arthur SE, Jiang A, Grande BM, Alcaide M,
Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L,
Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B,
Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB,
Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P,
Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide
discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001.
PMCID: PMC6167379