CD70 - morinlab/LLMPP GitHub Wiki
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CD70
Overview
CD70 is a costimulatory molecule expressed on some activated lymphocytes and has a role in T-cell-mediated immune responses.
CD70 aberrations are relatively common in DLBCL and appear more frequent in certain DLBCL patient populations. For instance, in a Chinese DLBCL cohort, 24% of cases exhibited CD70 genetic changes, compared to 10.8% in a Swedish cohort.[@nieDualRoleCD702022b]
CD70 mutations are associated with the BN2 genetic subtype of DLBCL.[@wrightProbabilisticClassificationTool2020]
The mutation pattern in CD70 is consistent with the preferential accumulation of inactivating mutations.
Genetic perturbation limits the development of an effective CD8+ T-cell immune response in Bcl6-driven DLBCL. [@nieDualRoleCD702022b]
In mouse models, CD70 loss promoted lymphomagenesis, consistent with its role as a tumor suppressor gene in B-cell lymphomas.[@mandatoAbstractA38Cd702022]
History
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2012-03-06 : Lohr : DLBCL
2013-08-15 : Morin : DLBCL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2023-07-26 : Russler-Germain : FL
Relevance tier by entity
Entity |
Tier |
Description |
![DLBCL](https://github.com/morinlab/LLMPP/wiki/images/icons/DLBCL_tier1.png) |
1 |
high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011] |
![FL](https://github.com/morinlab/LLMPP/wiki/images/icons/FL_tier2.png) |
2 |
relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity |
source |
frequency (%) |
DLBCL |
GAMBL genomes |
5.54 |
DLBCL |
Schmitz cohort |
9.36 |
DLBCL |
Reddy cohort |
6.91 |
DLBCL |
Chapuy cohort |
7.69 |
FL |
GAMBL genomes |
1.15 |
BL |
GAMBL genomes+capture |
0.92 |
BL |
Thomas cohort |
0.40 |
BL |
Panea cohort |
3.00 |
Mutation pattern and selective pressure estimates
Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
BL |
No |
No |
2.199 |
0.000 |
DLBCL |
No |
Yes |
28.493 |
249.836 |
FL |
No |
No |
0.000 |
106.251 |
CD70 Hotspots
Chromosome |
Coordinate (hg19) |
ref>alt |
HGVSp |
chr19 |
6590145 |
C>T |
W55* |
chr19 |
6590138 |
C>T |
A58T |
chr19 |
6590138 |
C>G |
A58P |
chr19 |
6590137 |
G>A |
A58V |
chr19 |
6590116 |
G>A |
T65I |
View coding variants in ProteinPaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/CD70_NM_001252.svg)
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/CD70.svg)
CD70 Expression
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/CD70_by_pathology.svg)
References