Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

@article{Chan2006HeritableGE,
  title={Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer},
  author={T. L. Chan and Siu Tsan Yuen and Chi Kwan Kong and Yee Wai Chan and Annie S Y Chan and Wai-fu Ng and Wai Yin Tsui and Michelle WS Lo and Wing Yip Tam and Vivian S W Li and Suet Yi Leung},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={1178-1183}
}
Epimutations in the germline, such as methylation of the MLH1 gene, may contribute to hereditary cancer syndrome in human, but their transmission to offspring has never been documented. Here we report a family with inheritance, in three successive generations, of germline allele-specific and mosaic hypermethylation of the MSH2 gene, without evidence of DNA mismatch repair gene mutation. Three siblings carrying the germline methylation developed early-onset colorectal or endometrial cancers, all… CONTINUE READING
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