Concordance in detection of microsatellite instability by PCR and NGS in routinely processed tumor specimens of several cancer types.
Cancer medicine(2023)
摘要
MSI analysis of FFPE DNA by NGS is feasible and the results show a high concordance in comparison with the monomorphic marker MSI-PCR. However, cases with a subtle MSI+ phenotype, most frequently manifest in EC, have a risk of a false-negative result by NGS and should be preferentially analyzed by capillary electrophoresis.
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关键词
dMMR, MSI, MSI-NGS, pentaplex-PCR
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