Article
Epigenetic mechanisms in the pathogenesis of Lynch syndrome.
Clinical genetics - 1 May 2014
Peltomäki P
Abstract excerpt
Inherited defects in the DNA mismatch repair (MMR) system, MLH1, MSH2, MSH6, and PMS2 genes, underlie Lynch syndrome, one of the most prevalent cancer syndromes in man. The syndrome offers a model for cancers arising through MMR defects and microsatellite instability, which applies to ~ 15% of all colorectal, endometrial, and other cancers. Lynch syndrome also illustrates the significance of the epigenetic...
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