Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy.

ABSTRACT: Genome sequencing can be used to detect DNA repair failures in tumors and learn about underlying mechanisms. Here, we synthesize findings from genomic studies that examined deficiencies of the DNA mismatch repair (MMR) pathway. The impairment of MMR results in genome-wide hypermutation and in the 'microsatellite instability' (MSI) phenotype-occurrence of indel mutations at short tandem repeat (microsatellite) loci. The MSI status of tumors was traditionally assessed by molecular testing of a selected set of MS loci or by measuring MMR protein expression levels. Today, genomic data can provide a more complete picture of the consequences on genomic instability. Multiple computational studies examined somatic mutation distributions that result from failed DNA repair pathways in tumors. These

SUBMITTER: Mas-Ponte D 

PROVIDER: S-EPMC8919091 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature