Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in PMBL/cHL/GZL not firmly established1 | |
| 1 | high-confidence DLBCL gene2 | |
| 1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.10 |
| DLBCL | Schmitz cohort | 1.70 |
| DLBCL | Reddy cohort | 2.00 |
| DLBCL | Chapuy cohort | 2.14 |
| FL | GAMBL genomes | 1.62 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 8.244 | 0.000 |
| DLBCL | No | No | 2.108 | 9.678 |
| FL | No | No | 1.637 | 0.000 |
HIST1H3B Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 26032045 | C>T | D82N |
| chr6 | 26032029 | C>G | S87T |
| chr6 | 26032029 | C>T | S87N |
| chr6 | 26032028 | G>C | S87R |
| chr6 | 26032021 | C>T | V90M |
| chr6 | 26032017 | A>G | M91T |
Cannot include /browser_HIST1H3B.md - does not exist yet
1.
Reichel J, Chadburn A, Rubinstein PG,
Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G,
Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E,
Roshal M. Flow
sorting and exome sequencing reveal the oncogenome of primary
Hodgkin and Reed-Sternberg cells. Blood.
2015 Feb 12;125(7):1061–1072.
2.
Lohr
JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C,
Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A,
Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N,
Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A,
Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A,
Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES,
Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and
prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by
whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar
6;109(10):3879–3884. PMCID: PMC3309757


