--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## Overview Mutations in this gene were first described in BL in 2012 by Love et al[@loveGeneticLandscapeMutations2012] and subsequently in DLBCL by Reddy et al.[@reddyGeneticFunctionalDrivers2017] Subsequent exome and genome-wide studies of DLBCL and BL did not reproduce these observations. ## Relevance tier by entity |Entity|Tier|Description | |:------:|:----:|-----------------------------------------| |![BL](images/icons/BL_tier2.png) |2 |relevance in BL not firmly established [@loveGeneticLandscapeMutations2012]| |![DLBCL](images/icons/DLBCL_tier2.png) |2 |relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]| ## Warnings <> ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |Entity|source |frequency (%)| |:------:|:---------------------:|:-------------:| |BL |GAMBL genomes+capture|2.54 | |BL |Thomas cohort | NA | |BL |Panea cohort | NA | |DLBCL |GAMBL genomes |0.57 | |DLBCL |Schmitz cohort |0.64 | |DLBCL |Reddy cohort |0.70 | |DLBCL |Chapuy cohort |1.28 | ## Mutation pattern and selective pressure estimates [[include:dnds_CDC73.md]] [[include:browser_CDC73.md]] ## Expression ![](images/gene_expression/CDC73_by_pathology.svg) ## Representative Mutations ### BL ![](primary/Love_CDC73.svg) **Rating** ★ ★ ★ ☆ ☆ ### DLBCL ![](primary/Reddy_CDC73.svg) **Rating** ★ ☆ ☆ ☆ ☆ ## All Mutations ### BL [1065](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/1065_reports.html) [1065](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/1065_reports.html) [847](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/847_reports.html) [[include:mermaid_CDC73.md]] ## References