BCL11A.md
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# BCL11A
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## Overview
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-BCL11A (B-cell lymphoma/leukemia 11A) is a transcription factor involved in the regulation of gene expression, particularly in lymphoid cells. Mutations in BCL11A have been linked to various lymphoid malignancies, including B-cell lymphomas. Amplification of the 2p13 region, where BCL11A is located, has been observed in various B-cell non-Hodgkin lymphomas (B-NHL) and Hodgkin disease (HD). Although this suggests that BCL11A amplification contributes to the malignancy through increased expression, the gene is commonly co-amplified with the REL gene.<sup>1</sup> The functional role of somatic mutations of BCL11A in B-cell lymphomas remains unclear. This is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
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+BCL11A (B-cell lymphoma/leukemia 11A) is a transcription factor involved in the regulation of gene expression, particularly in lymphoid cells. Mutations in BCL11A have been linked to various lymphoid malignancies, including B-cell lymphomas. Amplification of the 2p13 region, where BCL11A is located, has been observed in various B-cell non-Hodgkin lymphomas (B-NHL) and Hodgkin disease (HD). Although this suggests that BCL11A amplification contributes to the malignancy through increased expression, the gene is commonly co-amplified with the REL gene[@kober-hasslacherUnsolvedPuzzleCRel2019]. The functional role of somatic mutations of BCL11A in B-cell lymphomas remains unclear. This is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
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## Relevance tier by entity
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CD74.md
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<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->
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<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->
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-
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[[include:mermaid_CD74.md]]
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## References
RARA.md
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|Entity|Tier|Description |
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|:------:|:----:|-----------------------------------------|
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-|![DLBCL](images/icons/DLBCL_tier2.png) |3 |Retired, Failed QC|
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+|![DLBCL](images/icons/DLBCL_tier2.png) |3 |Retired, Failed QC[@reddyGeneticFunctionalDrivers2017]|
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## Mutation incidence in large patient cohorts (GAMBL reanalysis)
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[[include:mermaid_RARA.md]]
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## References
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-[@reddyGeneticFunctionalDrivers2017]
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+
RHEX.md
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![](images/gene_expression/RHEX_by_pathology.svg)
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<!-- ORIGIN: Unknown -->
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-[[include:mermaid_RHEX.md]]
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## References
mermaid_CD74.md
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-##History
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+## History
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```mermaid
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%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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timeline
morinlab.bib
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+@article{kober-hasslacherUnsolvedPuzzleCRel2019,
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+ title = {The {Unsolved} {Puzzle} of c-{Rel} in {B} {Cell} {Lymphoma}},
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+ volume = {11},
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+ issn = {2072-6694},
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+ url = {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678315/},
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+ doi = {10.3390/cancers11070941},
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+ abstract = {Aberrant constitutive activation of Rel/NF-κB transcription factors is a hallmark of numerous cancers. Of the five Rel family members, c-Rel has the strongest direct links to tumorigenesis. c-Rel is the only member that can malignantly transform lymphoid cells in vitro. Furthermore, c-Rel is implicated in human B cell lymphoma through the frequent occurrence of REL gene locus gains and amplifications. In normal physiology, high c-Rel expression predominates in the hematopoietic lineage and a diverse range of stimuli can trigger enhanced expression and activation of c-Rel. Both expression and activation of c-Rel are tightly regulated on multiple levels, indicating the necessity to keep its functions under control. In this review we meta-analyze and integrate studies reporting gene locus aberrations to provide an overview on the frequency of REL gains in human B cell lymphoma subtypes, namely follicular lymphoma, diffuse large B cell lymphoma, primary mediastinal B cell lymphoma, and classical Hodgkin lymphoma. We also summarize current knowledge on c-Rel expression and protein localization in these human B cell lymphomas and discuss the co-amplification of BCL11A with REL. In addition, we highlight and illustrate key pathways of c-Rel activation and regulation with a specific focus on B cell biology.},
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+ number = {7},
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+ urldate = {2024-12-17},
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+ journal = {Cancers},
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+ author = {Kober-Hasslacher, Maike and Schmidt-Supprian, Marc},
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+ month = jul,
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+ year = {2019},
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+ pmid = {31277480},
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+ pmcid = {PMC6678315},
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+ pages = {941},
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+ file = {PubMed Central Full Text PDF:C\:\\Users\\gbanc\\Zotero\\storage\\TGLI6QIT\\Kober-Hasslacher and Schmidt-Supprian - 2019 - The Unsolved Puzzle of c-Rel in B Cell Lymphoma.pdf:application/pdf},
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+}
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+
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@article{kingUbiquitinLigaseFBXW72013,
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title = {The ubiquitin ligase {FBXW7} modulates leukemia-initiating cell activity by regulating {MYC} stability},
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volume = {153},