2ecdcd41e5831aabbab1b99a77c4954a30fec3f3
ACTB.md
| ... | ... | @@ -8,7 +8,7 @@ link-citations: true |
| 8 | 8 | |
| 9 | 9 | ## Overview |
| 10 | 10 | |
| 11 | -ACTB is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas. |
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| 11 | +ACTB is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas. The function of mutations in ACTB and ACTG1 have not yet been determined.[@witjesPrevalenceCytoplasmicActin2020b] |
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| 12 | 12 | |
| 13 | 13 | ## History |
| 14 | 14 | ```mermaid |
| ... | ... | @@ -25,8 +25,8 @@ timeline |
| 25 | 25 | |:------:|:----:|--------------------------| |
| 26 | 26 | ||1|high-confidence MZL gene| |
| 27 | 27 | ||1|high-confidence PMBL/cHL/GZL gene[@wienandGenomicAnalysesFlowsorted2019b]| |
| 28 | -| |1-a |high-confidence DLBCL gene, hypermutated[@lohrDiscoveryPrioritizationSomatic2012a]| |
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| 29 | -| |1-a |high-confidence FL gene, hypermutated | |
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| 28 | +| |1 |high-confidence DLBCL gene, hypermutated[@lohrDiscoveryPrioritizationSomatic2012a]| |
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| 29 | +| |1 |high-confidence FL gene, hypermutated | |
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| 30 | 30 | |
| 31 | 31 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 32 | 32 |
ACTG1.md
| ... | ... | @@ -6,6 +6,8 @@ link-citations: true |
| 6 | 6 | |
| 7 | 7 | # ACTG1 |
| 8 | 8 | |
| 9 | +ACTG1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas. The function of mutations in ACTB and ACTG1 have not yet been determined.[@witjesPrevalenceCytoplasmicActin2020b] |
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| 10 | + |
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| 9 | 11 | ## History |
| 10 | 12 | |
| 11 | 13 | ```mermaid |
| ... | ... | @@ -24,7 +26,7 @@ timeline |
| 24 | 26 | ||2|relevance in PMBL/cHL/GZL not firmly established[@deschGenotypingCirculatingTumor2020]| |
| 25 | 27 | ||2|relevance in MZL not firmly established[@spinaGeneticsNodalMarginal2016b]| |
| 26 | 28 | ||2|relevance in FL not firmly established[@hubschmannMutationalMechanismsShaping2021b]| |
| 27 | -| |1-a | aSHM target and high-confidence DLBCL gene[@hubschmannMutationalMechanismsShaping2021b] | |
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| 29 | +| |1 | aSHM target and high-confidence DLBCL gene[@hubschmannMutationalMechanismsShaping2021b] | |
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| 28 | 30 | |
| 29 | 31 | |
| 30 | 32 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
morinlab.bib
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| 1 | +@article{witjesPrevalenceCytoplasmicActin2020b, |
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| 2 | + title = {Prevalence of {{Cytoplasmic Actin Mutations}} in {{Diffuse Large B-Cell Lymphoma}} and {{Multiple Myeloma}}: {{A Functional Assessment Based}} on {{Actin Three-Dimensional Structures}}}, |
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| 3 | + shorttitle = {Prevalence of {{Cytoplasmic Actin Mutations}} in {{Diffuse Large B-Cell Lymphoma}} and {{Multiple Myeloma}}}, |
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| 4 | + author = {Witjes, Laura and Van Troys, Marleen and Verhasselt, Bruno and Ampe, Christophe}, |
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| 5 | + date = {2020-04-27}, |
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| 6 | + journaltitle = {International Journal of Molecular Sciences}, |
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| 7 | + shortjournal = {Int J Mol Sci}, |
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| 8 | + volume = {21}, |
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| 9 | + number = {9}, |
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| 10 | + eprint = {32349449}, |
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| 11 | + eprinttype = {pmid}, |
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| 12 | + pages = {3093}, |
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| 13 | + issn = {1422-0067}, |
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| 14 | + doi = {10.3390/ijms21093093}, |
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| 15 | + abstract = {Mutations in actins have been linked to several developmental diseases. Their occurrence across different cancers has, however, not been investigated. Using the cBioPortal database we show that human actins are infrequently mutated in patient samples of various cancers types. Nevertheless, ranking these studies by mutational frequency suggest that some have a higher percentage of patients with ACTB and ACTG1 mutations. Within studies on hematological cancers, mutations in ACTB and ACTG1 are associated with lymphoid cancers since none have currently been reported in myeloid cancers. Within the different types of lymphoid cancers ACTB mutations are most frequent in diffuse large B-cell lymphoma (DLBCL) and ACTG1 mutations in multiple myeloma. We mapped the ACTB and ACTG1 mutations found in these two cancer types on the 3D-structure of actin showing they are in regions important for actin polymer formation or binding to myosin. The potential effects of the mutations on actin properties imply that mutations in cytoplasmic actins deserve dedicated research in DLBCL and multiple myeloma.}, |
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| 16 | + langid = {english}, |
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| 17 | + pmcid = {PMC7247664}, |
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| 18 | + keywords = {ACTB,ACTG1,actin mutations,Actins,Alleles,Biomarkers Tumor,cBioPortal,Cytoplasm,Databases Genetic,F-actin,Gene Amplification,Gene Deletion,Genetic Association Studies,Genetic Predisposition to Disease,Humans,lymphoid cancer,Lymphoma Large B-Cell Diffuse,meta-analysis of patient data,Models Molecular,Multiple Myeloma,Mutation,Mutation Rate,myosin,Organ Specificity,patient cancer data,plasma cell myeloma,Protein Conformation,Software,Structure-Activity Relationship}, |
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| 19 | + file = {/Users/rmorin/Zotero/storage/TJ3AEQTS/Witjes et al. - 2020 - Prevalence of Cytoplasmic Actin Mutations in Diffu.pdf} |
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| 20 | +} |
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| 21 | + |
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| 1 | 22 | @article{delageBTG1InactivationDrives2023a, |
| 2 | 23 | title = {{{BTG1}} Inactivation Drives Lymphomagenesis and Promotes Lymphoma Dissemination through Activation of {{BCAR1}}}, |
| 3 | 24 | author = {Delage, Lorric and Lambert, Mireille and Bardel, Émilie and Kundlacz, Cindy and Chartoire, Dimitri and Conchon, Axel and Peugnet, Anne-Laure and Gorka, Lucas and Auberger, Patrick and Jacquel, Arnaud and Soussain, Carole and Destaing, Olivier and Delecluse, Henri-Jacques and Delecluse, Susanne and Merabet, Samir and Traverse-Glehen, Alexandra and Salles, Gilles and Bachy, Emmanuel and Billaud, Marc and Ghesquières, Hervé and Genestier, Laurent and Rouault, Jean-Pierre and Sujobert, Pierre}, |