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Additional file 1 of Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine

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Figshare2024-08-14 更新2026-04-08 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Tumor_mutational_burden_assessment_and_standardized_bioinformatics_approach_using_custom_NGS_panels_in_clinical_routine/26683393/1
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Additional file 1: Table S1. Detailed TMB score variation according to variant allele frequency (VAF) cut-off and to sample type (FFPE or frozen). Table S2. Detailed TMB evaluation across the 685 contributive tumor samples. FFPE = Formalin-Fixed Paraffin-Embedded; mut = mutated; WT = Wild-Type; MSS = MicroSatellite Stable; MSI = MicroSatellite Instable; SCC = Squamous Cell Carcinoma; CNS = Central Nervous System; HNSCC = Head and Neck Squamous Cell Carcinoma; ACUP = AdenoCarcinoma of Unknown Primary; UCNT = Undifferentiated Carcinoma of Nasopharyngeal Type; GIST = Gastrointestinal Stromal Tumor. Table S3. Focus on TMB high cases including the evaluation of MSI score, MMR-related gene mutations, and MMR-related mutational signatures. * : pathogenic variants (with an allelic ratio ≥10%) among 3 candidate genes implicated in DNA damage repair (i.e., TP53, PTEN, and ARID1A). MSS = MicroSatellite Stable; MMR = MisMatch Repair. Table S4. MMR genes mutational variants detected in 3 samples with high TMB. MMR = MisMatch Repair; MSI = MicroSatellite Instable.
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Frouin, Eleonore; Neuzillet, Cindy; Servant, Nicolas; Castel-Ajgal, Zahra; Gutman, Tom; Galut, Michèle; Masliah-Planchon, Julien; Dupain, Célia; Callens, Céline; Vibert, Roseline; Sablin, Marie-Paule; Melaabi, Samia; Borcoman, Edith; Romejon, Julien; Wong, Jennifer; Hescot, Ségolène; Franck, Coralie; Marret, Grégoire; Kamal, Maud; Trabelsi-Grati, Olfa; Allory, Yves; Le Tourneau, Christophe; Cyrta, Joanna; Guillou, Isabelle; Halladjian, Maral; Stoppa-Lyonnet, Dominique; Bièche, Ivan; Antonio, Samantha; Kamoun, Choumouss; Girard, Elodie
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2024-08-14
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