Tumor Mutation Burden Computation in Two Pan-Cancer Precision Medicine Next-Generation Sequencing Panels.

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  • Additional Information
    • Source:
      Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9433358 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-8666 (Electronic) Linking ISSN: 10665277 NLM ISO Abbreviation: J Comput Biol Subsets: MEDLINE
    • Publication Information:
      Original Publication: New York, NY : Mary Ann Liebert, Inc., c1994-
    • Subject Terms:
      Mutation*; Biomarkers, Tumor/*genetics ; High-Throughput Nucleotide Sequencing/*methods ; Neoplasms/*genetics; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Algorithms ; Child ; Child, Preschool ; Computational Biology ; Exome/genetics ; Female ; High-Throughput Nucleotide Sequencing/statistics & numerical data ; Humans ; INDEL Mutation ; Immunotherapy ; Male ; Middle Aged ; Neoplasms/therapy ; Polymorphism, Single Nucleotide ; Precision Medicine ; Young Adult
    • Abstract:
      FD-180 and FD-600 are two next-generation sequencing panels developed by First Dimension Biosciences Co. for detecting mutations in cancer tissues and providing therapeutics guidance in precision medicine applications. FD-180 includes the coding exons of about 180 genes, including all the known drug target genes and some important driver genes; whereas FD-600 includes the coding exons of 578 cancer driver genes in the COSMIC database as of year 2016 when the panels are developed. Additional noncoding regions in the selected genes are included if they are reported as clinically meaningful in ClinVar. Tumor mutation burden (TMB) is a statistical index calculated from genomic sequencing for immunotherapeutic treatments, especially for PD1/PD-L1 antibodies. We used our computational algorithm on 81 patients and provided their classifications. TMB can be estimated quite accurately for the FD-180 and FD-600 panels, both for The Cancer Genome Atlas data and in clinical practice.
    • Contributed Indexing:
      Keywords: cancer driver genes; immunotherapeutics; next-generation sequencing; precision medicine; tumor mutation burden; whole-exome sequencing
    • Accession Number:
      0 (Biomarkers, Tumor)
    • Publication Date:
      Date Created: 20200421 Date Completed: 20210921 Latest Revision: 20210921
    • Publication Date:
      20240104
    • Accession Number:
      10.1089/cmb.2019.0055
    • Accession Number:
      32311294