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+@article{fernandoFunctionalCharacterizationSMARCA42020a,
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+ title = {Functional Characterization of {{SMARCA4}} Variants Identified by Targeted Exome-Sequencing of 131,668 Cancer Patients},
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+ author = {Fernando, Tharu M. and Piskol, Robert and Bainer, Russell and Sokol, Ethan S. and Trabucco, Sally E. and Zhang, Qing and Trinh, Huong and Maund, Sophia and Kschonsak, Marc and Chaudhuri, Subhra and Modrusan, Zora and Januario, Thomas and Yauch, Robert L.},
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+ date = {2020-11-03},
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+ journaltitle = {Nature Communications},
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+ shortjournal = {Nat Commun},
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+ volume = {11},
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+ number = {1},
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+ eprint = {33144586},
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+ eprinttype = {pmid},
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+ pages = {5551},
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+ issn = {2041-1723},
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+ doi = {10.1038/s41467-020-19402-8},
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+ abstract = {Genomic studies performed in cancer patients and tumor-derived cell lines have identified a high frequency of alterations in components of the mammalian switch/sucrose non-fermentable (mSWI/SNF or BAF) chromatin remodeling complex, including its core catalytic subunit, SMARCA4. Cells exhibiting loss of SMARCA4 rely on its paralog, SMARCA2, making SMARCA2 an attractive therapeutic target. Here we report the genomic profiling of solid tumors from 131,668 cancer patients, identifying 9434 patients with one or more SMARCA4 gene alterations. Homozygous SMARCA4 mutations were highly prevalent in certain tumor types, notably non-small cell lung cancer (NSCLC), and associated with reduced survival. The large sample size revealed previously uncharacterized hotspot missense mutations within the SMARCA4 helicase domain. Functional characterization of these mutations demonstrated markedly reduced remodeling activity. Surprisingly, a few SMARCA4 missense variants partially or fully rescued paralog dependency, underscoring that careful selection criteria must be employed to identify patients with inactivating, homozygous SMARCA4 missense mutations who may benefit from SMARCA2-targeted therapy.},
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+ langid = {english},
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+ pmcid = {PMC7609548},
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+ keywords = {Carcinogenesis,Cell Line Tumor,Cell Proliferation,Chromatin,Cohort Studies,DNA Helicases,Exome Sequencing,Gene Expression Regulation Neoplastic,Homozygote,Humans,Mutation,Mutation Missense,Neoplasms,Nuclear Proteins,Nucleosomes,Protein Domains,Transcription Factors},
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+ file = {/Users/rmorin/Zotero/storage/B9PHK4HX/Fernando et al. - 2020 - Functional characterization of SMARCA4 variants id.pdf}
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+}
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+
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@article{weberPiggyBacTransposonTools2019,
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title = {{{PiggyBac}} Transposon Tools for Recessive Screening Identify {{B-cell}} Lymphoma Drivers in Mice},
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author = {Weber, Julia and family=Rosa, given=Jorge, prefix=de la, useprefix=true and Grove, Carolyn S. and Schick, Markus and Rad, Lena and Baranov, Olga and Strong, Alexander and Pfaus, Anja and Friedrich, Mathias J. and Engleitner, Thomas and Lersch, Robert and Öllinger, Rupert and Grau, Michael and Menendez, Irene Gonzalez and Martella, Manuela and Kohlhofer, Ursula and Banerjee, Ruby and Turchaninova, Maria A. and Scherger, Anna and Hoffman, Gary J. and Hess, Julia and Kuhn, Laura B. and Ammon, Tim and Kim, Johnny and Schneider, Günter and Unger, Kristian and Zimber-Strobl, Ursula and Heikenwälder, Mathias and Schmidt-Supprian, Marc and Yang, Fengtang and Saur, Dieter and Liu, Pentao and Steiger, Katja and Chudakov, Dmitriy M. and Lenz, Georg and Quintanilla-Martinez, Leticia and Keller, Ulrich and Vassiliou, George S. and Cadiñanos, Juan and Bradley, Allan and Rad, Roland},