Concordance in detection of microsatellite instability by PCR and NGS in routinely processed tumor specimens of several cancer types.

Cancer medicine(2023)

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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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