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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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https://figshare.com/articles/dataset/Additional_file_1_of_Tumor_mutational_burden_assessment_and_standardized_bioinformatics_approach_using_custom_NGS_panels_in_clinical_routine/26683393
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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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2024-02-20
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