biostudies-literatureKim TMNCI NIH HHSNIGMS NIH HHS858-68https://www.ebi.ac.uk/biostudies/studies/S-EPMC3871995biostudies-literatureUnknown155(4)Microsatellites-simple tandem repeats present at millions of sites in the human genome-can shorten or lengthen due to a defect in DNA mismatch repair. We present here a comprehensive genome-wide analysis of the prevalence, mutational spectrum, and functional consequences of microsatellite instability (MSI) in cancer genomes. We analyzed MSI in 277 colorectal and endometrial cancer genomes (including 57 microsatellite-unstable ones) using exome and whole-genome sequencing data. Recurrent MSI events in coding sequences showed tumor type specificity, elevated frameshift-to-inframe ratios, and lower transcript levels than wild-type alleles. Moreover, genome-wide analysis revealed differences in the distribution of MSI versus point mutations, including overrepresentation of MSI in euchromatic aCellThe landscape of microsatellite instability in colorectal and endometrial cancer genomes.PMC3871995R01 GM082798U24CA144025U24 CA144025Park PJLaird PWKim TMfalseThe landscape of microsatellite instability in colorectal and endometrial cancer genomes.Microsatellites-simple tandem repeats present at millions of sites in the human genome-can shorten or lengthen due to a defect in DNA mismatch repair. We present here a comprehensive genome-wide analysis of the prevalence, mutational spectrum, and functional consequences of microsatellite instability (MSI) in cancer genomes. We analyzed MSI in 277 colorectal and endometrial cancer genomes (including 57 microsatellite-unstable ones) using exome and whole-genome sequencing data. Recurrent MSI events in coding sequences showed tumor type specificity, elevated frameshift-to-inframe ratios, and lower transcript levels than wild-type alleles. Moreover, genome-wide analysis revealed differences in the distribution of MSI versus point mutations, including overrepresentation of MSI in euchromatic a2013-01-01T00:00:00Z2013 Nov2026-04-30T22:37:58.345Z2026-04-07T16:26:21.293ZS-EPMC38719952420962310.1016/j.cell.2013.10.015