---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
---
[[_TOC_]]

## 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.[@nieDualRoleCD702022]
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. [@nieDualRoleCD702022]
In mouse models, CD70 loss promoted lymphomagenesis, consistent with its role as a tumor suppressor gene in B-cell lymphomas.[@mandatoAbstractA38Cd702022]


## Relevance tier by entity

|Entity|Tier|Description                           |
|:------:|:----:|--------------------------------------|
|![DLBCL](images/icons/DLBCL_tier1.png) |1   |high-confidence DLBCL gene            [@morinFrequentMutationHistonemodifying2011]|
|![FL](images/icons/FL_tier2.png)    |2   |relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023]|

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

[[include:DLBCL_CD70.md]]
[[include:FL_CD70.md]]

## Mutation pattern and selective pressure estimates

[[include:dnds_CD70.md]]

## 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 |

[[include:browser_CD70.md]]

## Expression
![](images/gene_expression/CD70_by_pathology.svg)
<!-- ORIGIN: morinFrequentMutationHistonemodifying2011 -->
<!-- DLBCL: morinFrequentMutationHistonemodifying2011 -->
<!-- FL: russler-germainMutationsAssociatedProgression2023b -->

[[include:mermaid_CD70.md]]

## References