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Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics

17 Oct 2007

Abstract excerpt

DNA mismatch repair (MMR) deficiency results in a strong mutator phenotype and high-frequency microsatellite instability (MSI-H), which are the hallmarks of tumors arising within Lynch syndrome. MSI-H is characterized by length alterations within simple repeated sequences, microsatellites. Lynch syndrome is primarily due to germline mutations in one of the DNA MMR genes; mainly hMLH1 or hMSH2 and less frequently...

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PMID: 17942460
DOI: 10.1093/carcin/bgm228

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