{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kim TM"],"funding":["NCI NIH HHS","NIGMS NIH HHS"],"pagination":["858-68"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3871995"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["155(4)"],"pubmed_abstract":["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 a"],"journal":["Cell"],"pubmed_title":["The landscape of microsatellite instability in colorectal and endometrial cancer genomes."],"pmcid":["PMC3871995"],"funding_grant_id":["R01 GM082798","U24CA144025","U24 CA144025"],"pubmed_authors":["Park PJ","Laird PW","Kim TM"],"additional_accession":[]},"is_claimable":false,"name":"The landscape of microsatellite instability in colorectal and endometrial cancer genomes.","description":"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 a","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 Nov","modification":"2026-04-30T22:37:58.345Z","creation":"2026-04-07T16:26:21.293Z"},"accession":"S-EPMC3871995","cross_references":{"pubmed":["24209623"],"doi":["10.1016/j.cell.2013.10.015"]}}