bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
Mutations in the FOXO1 gene, which encodes a member of the forkhead family of transcription factors, play a significant role in diffuse large B-cell lymphoma (DLBCL). Mutations primarily occur in the first exon, with significant portions affecting the N-terminal region and the Forkhead DNA binding domain.1 These mutations are common in DLBCL, BL and, to a lesser extent, FL.2,3 FOXO1 mutations can contribute to resistance to certain therapies, such as anti-CD20-based immunotherapies, by repressing MS4A1 (CD20) expression.4
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2012-10-04 : Schmitz : BL
2021-07-15 : Duns : PMBL
Loading
Entity
Tier
Description
1
high-confidence MZL gene
2
relevance in PMBL/cHL/GZL not firmly established[@dunsCharacterizationDLBCLPMBL2021b]
1
high-confidence BL gene [@schmitzBurkittLymphomaPathogenesis2012]
1
high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011]
1
high-confidence FL gene [@morinFrequentMutationHistonemodifying2011]
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity
source
frequency (%)
BL
GAMBL genomes+capture
23.33
BL
Thomas cohort
28.00
BL
Panea cohort
21.80
DLBCL
GAMBL genomes
10.13
DLBCL
Schmitz cohort
7.23
DLBCL
Reddy cohort
2.40
DLBCL
Chapuy cohort
2.14
FL
GAMBL genomes
12.93
Mutation pattern and selective pressure estimates
Entity
aSHM
Significant selection
dN/dS (missense)
dN/dS (nonsense)
BL
No
Yes
14.841
5.170
DLBCL
No
No
6.936
0.000
FL
No
Yes
18.992
103.028
Chromosome
Coordinate (hg19)
ref>alt
HGVSp
chr13
41240294
C>T
R19Q
chr13
41240294
C>G
R19P
chr13
41240294
C>A
R19L
chr13
41240289
G>C
R21G
chr13
41240289
G>A
R21C
chr13
41240288
C>T
R21H
chr13
41240288
C>G
R21P
chr13
41240288
C>A
R21L
chr13
41240286
AG>GC
S22P
chr13
41240286
AG>GA
S22P
chr13
41240286
A>G
S22P
chr13
41240285
G>C
S22W
chr13
41240281
G>T
C23*
chr13
41240280
T>C
T24A
chr13
41240279
G>A
T24I
chr13
41240277
A>G
W25R
chr13
41240275
C>T
W25*
chr13
41240274
G>C
P26A
chr13
41240274
G>A
P26S
chr13
41240273
G>A
P26L
chr13
41240271
G>C
L27V
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38