4ceb5944d912b9706ed13bb6744896ddee83775b
BRINP3.md
| ... | ... | @@ -5,10 +5,10 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | -<<Warn("In a subsequent reanalysis, the mutation rate in this gene was found to be inflated in the original results")>> |
|
| 9 | 8 | |
| 10 | -Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup>[@reddyGeneticFunctionalDrivers2017]</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation. |
|
| 9 | +## Overview |
|
| 11 | 10 | |
| 11 | +Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup>[@reddyGeneticFunctionalDrivers2017]</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation. |
|
| 12 | 12 | |
| 13 | 13 | |
| 14 | 14 | ## Relevance tier by entity |
| ... | ... | @@ -17,14 +17,18 @@ Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup |
| 17 | 17 | |:------:|:----:|-----------------------------------------| |
| 18 | 18 | | |2 |relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]| |
| 19 | 19 | |
| 20 | +## Warnings |
|
| 21 | + |
|
| 22 | +<<Warn("In a subsequent reanalysis, the mutation rate in this gene was found to be inflated in the original results")>> |
|
| 23 | +Details[@drevalRevisitingReddyDLBCL2023] |
|
| 24 | + |
|
| 20 | 25 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 21 | 26 | |
| 22 | -|Entity|source |frequency (%)| |
|
| 23 | -|:------:|:--------------:|:-------------:| |
|
| 24 | -|DLBCL |GAMBL genomes |2.68 | |
|
| 25 | -|DLBCL |Schmitz cohort|3.40 | |
|
| 26 | -|DLBCL |Reddy cohort |3.30 | |
|
| 27 | -|DLBCL |Chapuy cohort |2.99 | |
|
| 27 | +### DLBCL |
|
| 28 | +[[include:DLBCL_BRINP3.md]] |
|
| 29 | + |
|
| 30 | +### BL |
|
| 31 | +[[include:BL_BRINP3.md]] |
|
| 28 | 32 | |
| 29 | 33 | ## Mutation pattern and selective pressure estimates |
| 30 | 34 | |
| ... | ... | @@ -102,6 +106,9 @@ Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup |
| 102 | 106 | [Reddy_3989T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3989T.html) |
| 103 | 107 | [Reddy_695T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_695T.html) |
| 104 | 108 | |
| 109 | +Source[@reddyGeneticFunctionalDrivers2017] |
|
| 110 | + |
|
| 111 | + |
|
| 105 | 112 | [[include:mermaid_BRINP3.md]] |
| 106 | 113 | |
| 107 | 114 | ## References |
CARD11.md
| ... | ... | @@ -5,6 +5,10 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 9 | + |
|
| 10 | +Mutations in CARD11 were initially described as enriched in the ABC subgroup of DLBCL.[@lenzOncogenicCARD11Mutations2008] |
|
| 11 | +More recent data contradicts this association and has implicated CARD11 in FL and additional B-cell lymphomas including FL and MCL.[@morinFrequentMutationHistonemodifying2011; @wuGeneticHeterogeneityPrimary2016] |
|
| 8 | 12 | |
| 9 | 13 | ## Experimental Evidence |
| 10 | 14 | |
| ... | ... | @@ -65,7 +69,5 @@ The functional effect of CARD11 mutations in DLBCL was explored in the original |
| 65 | 69 | |
| 66 | 70 | [[include:mermaid_CARD11.md]] |
| 67 | 71 | |
| 68 | -Mutations in CARD11 were initially described as enriched in the ABC subgroup of DLBCL.[@lenzOncogenicCARD11Mutations2008] |
|
| 69 | -More recent data contradicts this association and has implicated CARD11 in FL and additional B-cell lymphomas including FL and MCL.[@morinFrequentMutationHistonemodifying2011; @wuGeneticHeterogeneityPrimary2016] |
|
| 70 | 72 | |
| 71 | 73 | ## References |
CARD4.md
| ... | ... | @@ -5,11 +5,11 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | +## Overview |
|
| 8 | 9 | |
| 9 | 10 | *CARD4 is now known as NOD1.* |
| 10 | 11 | |
| 11 | 12 | |
| 12 | - |
|
| 13 | 13 | ## Relevance tier by entity |
| 14 | 14 | |
| 15 | 15 | |Entity|Tier|Description | |
Template.md
| ... | ... | @@ -7,8 +7,9 @@ link-citations: true |
| 7 | 7 | |
| 8 | 8 | [[_TOC_]] |
| 9 | 9 | |
| 10 | +## Overview |
|
| 10 | 11 | |
| 11 | -## Gene lists |
|
| 12 | +## Relevance tier by entity |
|
| 12 | 13 | |
| 13 | 14 | |Entity|Tier|Description | |
| 14 | 15 | |:------:|:----:|--------------------------------------| |
| ... | ... | @@ -17,10 +18,12 @@ link-citations: true |
| 17 | 18 | ||2|relevance in PMBL/cHL/GZL not firmly established[@sarkozyMutationalLandscapeGray2021]| |
| 18 | 19 | | |2 |relevance in BL not firmly established[@burkhardtClinicalRelevanceMolecular2022]| |
| 19 | 20 | |
| 20 | -[[include:Template_Overview.md]] |
|
| 21 | +## Warnings |
|
| 21 | 22 | |
| 23 | +*may not exist* |
|
| 22 | 24 | |
| 23 | 25 | ## Mutation incidence from meta-analysis |
| 26 | +*sub headings per file here unless there is just one* |
|
| 24 | 27 | |
| 25 | 28 | ### DLBCL |
| 26 | 29 | [[include:DLBCL_BCL2.md]] |
| ... | ... | @@ -35,20 +38,26 @@ link-citations: true |
| 35 | 38 | |
| 36 | 39 | [[include:dnds_BCL2.md]] |
| 37 | 40 | |
| 38 | -[[include:Template_aSHM.md]] |
|
| 41 | +## aSHM regions |
|
| 39 | 42 | |
| 43 | +*section will only exist for certain genes* |
|
| 40 | 44 | |
| 41 | -[[include:Template_Hotspots.md]] |
|
| 45 | +|chr_name|hg19_start|hg19_end|region|regulatory_comment| |
|
| 46 | +|:--------:|:----------:|:--------:|:--------:|:------------------:| |
|
| 47 | +|chr6 |90981034 |91016134|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr6%3A90981034%2D91016134)|NA| |
|
| 48 | + |
|
| 49 | +## Hotspots |
|
| 50 | + |
|
| 51 | +*section will only exist for certain genes* |
|
| 42 | 52 | |
| 43 | 53 | [[include:Template_Browser.md]] |
| 44 | 54 | |
| 45 | -[[include:Template_Expression.md]] |
|
| 55 | +## Expression |
|
| 56 | + |
|
| 57 | + |
|
| 46 | 58 | |
| 47 | 59 | [[include:Template_History.md]] |
| 48 | 60 | |
| 61 | +## References |
|
| 62 | + |
|
| 49 | 63 | |
| 50 | -<!-- ORIGIN: 1339299 --> |
|
| 51 | -<!-- FL: morinFrequentMutationHistonemodifying2011 --> |
|
| 52 | -<!-- BL: burkhardtClinicalRelevanceMolecular2022b --> |
|
| 53 | -<!-- BL: burkhardtClinicalRelevanceMolecular2022b --> |
|
| 54 | -<!-- DLBCL: tanakaFrequentIncidenceSomatic1992 --> |