title: The clinical potential of Enhanced-ice-COLD-PCR.
abstract: Enhanced-ice-COLD-PCR (E-ice-COLD-PCR) is a novel assay format that allows for the efficient enrichment and sensitive detection of all mutations in a region of interest using a chemically modified blocking oligonucleotide, which impedes the amplification of wild-type sequences. The assay is compatible with DNA extracted from tissue and cell-free circulating DNA. The main features of E-ice-COLD-PCR are the simplicity of the setup and the optimization of the assay, the use of standard laboratory equipment and the very short time to results (~4 h including DNA extraction, enrichment and sequence-based identification of mutations). E-ice-COLD-PCR is therefore a highly promising technology for a number of basic research as well as clinical applications including detection of clinically relevant mutated subclones and monitoring of treatment response or disease recurrence.
authors.affiliation: a Laboratory for Epigenetics and Environment , Centre National de Génotypage, CEA-Institut de Génomique , Evry , France.
authors.forename: Jörg
authors.initials: J
authors.lastname: Tost
mesh_terms: D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000592:standards; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods* / Q000592:standards; D057285:Precision Medicine / Q000379:methods; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000592:standards
chemical_list: D004273:DNA, Neoplasm
keywords: BRAF; COLD-PCR; Cell-free circulating DNA; E-ice-COLD-PCR; KRAS; NRAS; mutation; personalized medicine; pyrosequencing