morinlab.bib
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+@article{fangazioGeneticMechanismsHLAI2021b,
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+ title = {Genetic Mechanisms of {{HLA-I}} Loss and Immune Escape in Diffuse Large {{B}} Cell Lymphoma},
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+ author = {Fangazio, Marco and Ladewig, Erik and Gomez, Karen and Garcia-Ibanez, Laura and Kumar, Rahul and Teruya-Feldstein, Julie and Rossi, Davide and Filip, Ioan and Pan-Hammarström, Qiang and Inghirami, Giorgio and Boldorini, Renzo and Ott, German and Staiger, Annette M. and Chapuy, Björn and Gaidano, Gianluca and Bhagat, Govind and Basso, Katia and Rabadan, Raul and Pasqualucci, Laura and Dalla-Favera, Riccardo},
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+ date = {2021-06-01},
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+ journaltitle = {Proceedings of the National Academy of Sciences of the United States of America},
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+ shortjournal = {Proc Natl Acad Sci U S A},
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+ volume = {118},
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+ number = {22},
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+ eprint = {34050029},
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+ eprinttype = {pmid},
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+ pages = {e2104504118},
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+ issn = {1091-6490},
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+ doi = {10.1073/pnas.2104504118},
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+ abstract = {Fifty percent of diffuse large B cell lymphoma (DLBCL) cases lack cell-surface expression of the class I major histocompatibility complex (MHC-I), thus escaping recognition by cytotoxic T cells. Here we show that, across B cell lymphomas, loss of MHC-I, but not MHC-II, is preferentially restricted to DLBCL. To identify the involved mechanisms, we performed whole exome and targeted HLA deep-sequencing in 74 DLBCL samples, and found somatic inactivation of B2M and the HLA-I loci in 80\% (34 of 42) of MHC-INEG tumors. Furthermore, 70\% (22 of 32) of MHC-IPOS DLBCLs harbored monoallelic HLA-I genetic alterations (MHC-IPOS/mono), indicating allele-specific inactivation. MHC-INEG and MHC-IPOS/mono cases harbored significantly higher mutational burden and inferred neoantigen load, suggesting potential coselection of HLA-I loss and sustained neoantigen production. Notably, the analysis of {$>$}500,000 individuals across different cancer types revealed common germline HLA-I homozygosity, preferentially in DLBCL. In mice, germinal-center B cells lacking HLA-I expression did not progress to lymphoma and were counterselected in the context of oncogene-driven lymphomagenesis, suggesting that additional events are needed to license immune evasion. These results suggest a multistep process of HLA-I loss in DLBCL development including both germline and somatic events, and have direct implications for the pathogenesis and immunotherapeutic targeting of this disease.},
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+ langid = {english},
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+ pmcid = {PMC8179151},
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+ keywords = {beta 2-Microglobulin,Cell Line Tumor,Cell Transformation Neoplastic,Cytidine Deaminase,DLBCL,Gene Silencing,Histocompatibility Antigens Class I,HLA,Humans,immune evasion,Lymphoma Large B-Cell Diffuse,Proto-Oncogene Proteins c-bcl-6},
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+}
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+
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@article{kannengiesserFunctionalStructuralGenetic2009,
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title = {Functional, Structural, and Genetic Evaluation of 20 {{CDKN2A}} Germ Line Mutations Identified in Melanoma-Prone Families or Patients},
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author = {Kannengiesser, Caroline and Brookes, Sharon and family=Arroyo, given=Anna Gutierrez, prefix=del, useprefix=true and Pham, Danielle and Bombled, Johny and Barrois, Michel and Mauffret, Olivier and Avril, Marie-Françoise M. and Chompret, Agnès and Lenoir, Gilbert M. and Sarasin, Alain and {French Hereditary Melanoma Study Group} and Peters, Gordon and Bressac-de Paillerets, Brigitte},