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Microsatellite instability (MSI) is a form of hypermutation caused by defective DNA mismatch repair (MMR). MSI is characterized by widespread changes in the length of genomic mononucleotide repeats (e.g., AAAAA….) or microsatellites (e.g., GATAGATAGATA….), collectively termed simple repeats (Iacopetta et al., 2010; Boland et al., 1998; Eshleman and Markowitz, 1996). MSI is also characterized by high rates of single-nucleotide-substitution (SNS) mutations (Greenman et al., 2007). MSI can arise due to germ-line mutations in MMR genes, due to somatic mutations in MMR genes, or due to epigenetic inactivation of MMR genes (Veigl et al., 1998; Cunningham et al., 1998).
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