14f371cc7844f39fd214b003f65e235c907d9e5e
DICER1.md
| ... | ... | @@ -5,10 +5,6 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | -<<Warn("The variants reported in this gene in DLBCL failed QC")>> |
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| 9 | - |
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| 10 | -Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1) |
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| 11 | - |
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| 12 | 8 | |
| 13 | 9 | ## Relevance tier by entity |
| 14 | 10 | |
| ... | ... | @@ -16,6 +12,11 @@ Mutations in this gene were reported to be inflated in the original results acco |
| 16 | 12 | |:------:|:----:|-----------------------------------------| |
| 17 | 13 | | |3 |Retired, Failed QC[@reddyGeneticFunctionalDrivers2017]| |
| 18 | 14 | |
| 15 | +<<Warn("The variants reported in this gene in DLBCL failed QC")>> |
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| 16 | + |
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| 17 | +Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1) |
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| 18 | + |
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| 19 | + |
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| 19 | 20 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 21 | |
| 21 | 22 | |Entity|source |frequency (%)| |
| ... | ... | @@ -25,6 +26,8 @@ Mutations in this gene were reported to be inflated in the original results acco |
| 25 | 26 | |DLBCL |Reddy cohort |1.10 | |
| 26 | 27 | |DLBCL |Chapuy cohort |2.56 | |
| 27 | 28 | |
| 29 | + |
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| 30 | + |
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| 28 | 31 | ## Mutation pattern and selective pressure estimates |
| 29 | 32 | |
| 30 | 33 | [[include:dnds_DICER1.md]] |
| ... | ... | @@ -32,7 +35,6 @@ Mutations in this gene were reported to be inflated in the original results acco |
| 32 | 35 | |
| 33 | 36 | |
| 34 | 37 | |
| 35 | - |
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| 36 | 38 | [[include:browser_DICER1.md]] |
| 37 | 39 | |
| 38 | 40 | ## Expression |
FOXC1.md
| ... | ... | @@ -6,7 +6,7 @@ link-citations: true |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | 8 | ## Overview |
| 9 | -FOXC1 is a transcription factor that regulates genes involved in cell growth, differentiation, and survival. While specific data on FOXC1 mutations in DLBCL are currently limited, the functional role of FOXC1 in transcription regulation and its involvement in other cancers suggest that it could play a significant role in lymphoma pathogenesis. Further research is needed to explore the implications of FOXC1 mutations in DLBCL and other B-cell lymphomas. The rate of FOXC1 varies across studies and was high in only one cohort.<sup>1</sup> Owing to this, the actual prevalence in DLBCL remains unclear and should be studied further. *Without further support, this gene may be migrated to Tier 2.* |
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| 9 | +FOXC1 is a transcription factor that regulates genes involved in cell growth, differentiation, and survival. While specific data on FOXC1 mutations in DLBCL are currently limited, the functional role of FOXC1 in transcription regulation and its involvement in other cancers suggest that it could play a significant role in lymphoma pathogenesis. Further research is needed to explore the implications of FOXC1 mutations in DLBCL and other B-cell lymphomas. The rate of FOXC1 varies across studies and was high in only one cohort.[@schmitzGeneticsPathogenesisDiffuse2018] Owing to this, the actual prevalence in DLBCL remains unclear and should be studied further. *Without further support, this gene may be migrated to Tier 2.* |
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| 10 | 10 | |
| 11 | 11 | ## Relevance tier by entity |
| 12 | 12 |
SETD5.md
| ... | ... | @@ -5,7 +5,6 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | -<<Warn("Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)")>> |
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| 9 | 8 | |
| 10 | 9 | ## Relevance tier by entity |
| 11 | 10 | |
| ... | ... | @@ -14,6 +13,10 @@ link-citations: true |
| 14 | 13 | ||2|relevance in PMBL/cHL/GZL not firmly established[@tiacciPervasiveMutationsJAKSTAT2018]| |
| 15 | 14 | | |2 |relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]| |
| 16 | 15 | |
| 16 | +<<Warn("The variants reported in this gene in DLBCL failed QC")>> |
|
| 17 | + |
|
| 18 | +Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1) |
|
| 19 | + |
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| 17 | 20 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 21 | |
| 19 | 22 | |Entity|source |frequency (%)| |
YY1.md
| ... | ... | @@ -5,7 +5,6 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | [[_TOC_]] |
| 7 | 7 | |
| 8 | -<<Warn("Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)")>> |
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| 9 | 8 | |
| 10 | 9 | ## Relevance tier by entity |
| 11 | 10 | |
| ... | ... | @@ -13,6 +12,11 @@ link-citations: true |
| 13 | 12 | |:------:|:----:|-----------------------------------------| |
| 14 | 13 | | |2 |relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017; @chapuyMolecularSubtypesDiffuse2018]| |
| 15 | 14 | |
| 15 | +<<Warn("The variants reported in this gene in DLBCL failed QC")>> |
|
| 16 | + |
|
| 17 | +Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1) |
|
| 18 | + |
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| 19 | + |
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| 16 | 20 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 17 | 21 | |
| 18 | 22 | |Entity|source |frequency (%)| |
ZFX.md
| ... | ... | @@ -12,6 +12,10 @@ link-citations: true |
| 12 | 12 | |:------:|:----:|-----------------------------------------| |
| 13 | 13 | | |2 |relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]| |
| 14 | 14 | |
| 15 | +<<Warn("The variants reported in this gene in DLBCL failed QC")>> |
|
| 16 | + |
|
| 17 | +Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1) |
|
| 18 | + |
|
| 15 | 19 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 16 | 20 | |
| 17 | 21 | |Entity|source |frequency (%)| |
| ... | ... | @@ -21,7 +25,6 @@ link-citations: true |
| 21 | 25 | |DLBCL |Reddy cohort |1.40 | |
| 22 | 26 | |DLBCL |Chapuy cohort |0.43 | |
| 23 | 27 | |
| 24 | -<<Warn("Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)")>> |
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| 25 | 28 | |
| 26 | 29 | |
| 27 | 30 | ## Mutation pattern and selective pressure estimates |