Article
Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy.
Clinical science (London, England : 1979) - 18 Mar 2022
Mas-Ponte David, McCullough Marcel, Supek Fran
Abstract excerpt
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)...
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