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Microsatellite Instability

Microsatellite instability describes the reduced fidelity during the replication of repetitive DNA often occurring in tumor cells. It's thought to be caused by strand slippage during DNA replication due to mutations in DNA mismatch repair genes. MSI leads to the appearance of multiple alleles at microsatellite loci, which can be easily identified. Mutations in microsatellite regions are termed MSI, while replication error (RER) is usually defined as MSI at multiple microsatellite markers.

The electropherogram of the dinucleotide repeat marker D18S35 from a homozygous individual (Figure 1). The appearance of numerous extra alleles at lower molecular weights in the tumor sample (Figure 1, bottom panel) indicates significant genomic instability.

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