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Somatic Mutation Allelic Ratio Test Using ddPCR (SMART-ddPCR): An Accurate Method for Assessment of Preferential Allelic Imbalance in Tumor DNA

De Smith, Adam J ; Walsh, Kyle M ; Hansen, Helen M ; Endicott, Alyson A ; Wiencke, John K ; Metayer, Catherine ; Wiemels, Joseph L

PloS one, 2015, Vol.10(11), pp.e0143343 [Rivista Peer Reviewed]

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  • Titolo:
    Somatic Mutation Allelic Ratio Test Using ddPCR (SMART-ddPCR): An Accurate Method for Assessment of Preferential Allelic Imbalance in Tumor DNA
  • Autore: De Smith, Adam J ; Walsh, Kyle M ; Hansen, Helen M ; Endicott, Alyson A ; Wiencke, John K ; Metayer, Catherine ; Wiemels, Joseph L
  • Note di contenuto: The extent to which heritable genetic variants can affect tumor development has yet to be fully elucidated. Tumor selection of single nucleotide polymorphism (SNP) risk alleles, a phenomenon called preferential allelic imbalance (PAI), has been demonstrated in some cancer types. We developed a novel application of digital PCR termed Somatic Mutation Allelic Ratio Test using Droplet Digital PCR (SMART-ddPCR) for accurate assessment of tumor PAI, and have applied this method to test the hypothesis that heritable SNPs associated with childhood acute lymphoblastic leukemia (ALL) may demonstrate tumor PAI. These SNPs are located at CDKN2A (rs3731217) and IKZF1 (rs4132601), genes frequently lost in ALL, and at CEBPE (rs2239633), ARID5B (rs7089424), PIP4K2A (rs10764338), and GATA3 (rs3824662), genes located on chromosomes gained in high-hyperdiploid ALL. We established thresholds of AI using constitutional DNA from SNP heterozygotes, and subsequently measured allelic copy number in tumor DNA from...
  • Fa parte di: PloS one, 2015, Vol.10(11), pp.e0143343
  • Soggetti: Allelic Imbalance ; DNA, Neoplasm -- Metabolism ; Multiplex Polymerase Chain Reaction -- Methods
  • Lingua: Inglese
  • Tipo: Articolo
  • Identificativo: E-ISSN: 1932-6203 ; PMID: 26575185 Version:1 ; DOI: 10.1371/journal.pone.0143343
  • Fonte: MEDLINE/PubMed (U.S. National Library of Medicine)

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