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 22 0.0202 [0.0118,0.0286]
DLBCL GAMBL with Reddy 2,088 42 0.0201 [0.0141,0.0261]
DLBCL BC 231 2 0.0087 [0,0.0206]
DLBCL Dana-Farber 303 8 0.0264 [0.0083,0.0445]
DLBCL NCI 470 8 0.0170 [0.0053,0.0287]
DLBCL Reddy 999 20 0.0200 [0.0113,0.0287]
DLBCL DLBCL_ICGC 85 4 0.0471 [0.002,0.0921]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 7 0.0227 [0.0061,0.0392]
BL GAMBL without ICGC/Zhou 320 8 0.0246 [0.0077,0.0416]
BL GAMBL with Panea 410 10 0.0241 [0.0092,0.0389]
BL BLGSP 219 5 0.0228 [0.003,0.0426]
BL Zhou/ICGC 90 2 0.0222 [0,0.0527]
BL Panea 101 3 0.0297 [0,0.0628]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 7 0.0109 [0.0029,0.0189]
FL GAMBL with Crouch 1,189 17 0.0143 [0.0075,0.021]
FL BC 379 3 0.0079 [0,0.0168]
FL Kalmbach 164 1 0.0061 [0,0.018]
FL Crouch 547 10 0.0183 [0.0071,0.0295]
FL FL_ICGC 99 3 0.0303 [0,0.0641]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 9.0187 0.000 1.0000
FL 1.8444 0.000 1.0000
DLBCL 0.8530 1.059 0.7937

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

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History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2013-01-01 : Zhang : DLBCL 2015-02-12 : Reichel : PMBL

References

1.
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
2.
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.