BCL7A.md
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## Overview
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-BCL7A protein interacts with components of the SWI/SNF chromatin remodeling complex, implicating it in chromatin remodeling processes essential for normal cellular function.[@reichelFlowSortingExome2015a] Mutations in the BCL7A gene have been identified in diffuse large B-cell lymphoma (DLBCL) and other B-cell lymphomas, implicating this gene in the pathogenesis of these cancers. Importantly, BCL7A 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. Due to the presence of some loss-of-function mutations, BCL7A has been described as a tumour-suppressor gene in DLBCL. The rate of DLBCLs with biallelic loss of this locus remains unclear.
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+BCL7A protein interacts with components of the SWI/SNF chromatin remodeling complex, implicating it in chromatin remodeling processes essential for normal cellular function.[@reichelFlowSortingExome2015a] Mutations in the BCL7A gene have been identified in diffuse large B-cell lymphoma (DLBCL) and other B-cell lymphomas, implicating this gene in the pathogenesis of these cancers. Importantly, BCL7A 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. Due to the presence of some loss-of-function mutations, BCL7A has been described as a tumour-suppressor gene in DLBCL.[@balinas-gaviraFrequentMutationsAminoterminal2020b]
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+The rate of DLBCLs with biallelic loss of this locus remains unclear.
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```mermaid
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|:------:|:----:|--------------------------------------|
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|![MZL](images/icons/MZL_tier1.png)|1|high-confidence MZL gene|
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|![PMBL](images/icons/PMBL_tier2.png)|2|relevance in PMBL/cHL/GZL not firmly established[@reichelFlowSortingExome2015a]|
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-|![DLBCL](images/icons/DLBCL_tier1.png) |1-a | aSHM target and high-confidence DLBCL gene [@arthurGenomewideDiscoverySomatic2018] |
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-|![FL](images/icons/FL_tier1.png) |1-a | aSHM target and high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
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-|![BL](images/icons/BL_tier2.png) |2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@grandeGenomewideDiscoverySomatic2019]|
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+|![DLBCL](images/icons/DLBCL_tier1.png) |1-EE[@balinas-gaviraFrequentMutationsAminoterminal2020b] | high-confidence DLBCL gene [@arthurGenomewideDiscoverySomatic2018] |
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+|![FL](images/icons/FL_tier1.png) |1 | high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
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+|![BL](images/icons/BL_tier2.png) |2 | Although recurrent, the relevance of mutations in BL is tenuous [@grandeGenomewideDiscoverySomatic2019]|
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## Mutation incidence in large patient cohorts (GAMBL reanalysis)
morinlab.bib
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+@article{balinas-gaviraFrequentMutationsAminoterminal2020b,
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+ title = {Frequent Mutations in the Amino-Terminal Domain of {{BCL7A}} Impair Its Tumor Suppressor Role in {{DLBCL}}},
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+ author = {Baliñas-Gavira, Carlos and Rodríguez, M. I. and Andrades, Á and Cuadros, M. and Álvarez-Pérez, J. and Álvarez-Prado, Ángel F. and family=Yébenes, given=V. G., prefix=de, useprefix=false and Sanchez-Hernandez, S. and Fernández-Vigo, Elvira and Muñoz, Javier and Martín, F. and Ramiro, A. and Martinez-Climent, J. and Medina, P.},
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+ date = {2020},
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+ journaltitle = {Leukemia},
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+ shortjournal = {Leukemia},
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+ pages = {1--14},
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+ doi = {10.1038/s41375-020-0919-5},
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+ file = {/Users/rmorin/Zotero/storage/IPI7CA35/Baliñas-Gavira et al. - 2020 - Frequent mutations in the amino-terminal domain of.pdf}
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+}
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+
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@article{phelanBCL10MutantsArchitects2022,
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title = {{{BCL10 Mutants}}: {{Architects}} of {{Oncogenic Signaling Provide}} a {{Blueprint}} for {{Precision Medicine}}},
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shorttitle = {{{BCL10 Mutants}}},