Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics.

@article{Imai2008CarcinogenesisAM,
  title={Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics.},
  author={Kohzoh Imai and Hiroyuki Yamamoto},
  journal={Carcinogenesis},
  year={2008},
  volume={29 4},
  pages={673-80}
}
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 hMSH6 and rarely hPMS2. Germline hemiallelic methylation of MLH1, termed… CONTINUE READING
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