A database to support the interpretation of human mismatch repair gene variants.

@article{Ou2008ADT,
  title={A database to support the interpretation of human mismatch repair gene variants.},
  author={Jianghua Ou and Ren{\'e}e C. Niessen and Jan J. Vonk and Helga Westers and Robert M. W. Hofstra and Rolf Sijmons},
  journal={Human mutation},
  year={2008},
  volume={29 11},
  pages={1337-41}
}
Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 can cause Lynch syndrome. This syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominantly-inherited disorder predominantly characterized by colorectal and endometrial cancer. Truncating MMR gene mutations generally offer a clear handle for genetic counseling and allow for presymptomatic testing. In contrast, the clinical implications of most missense mutations and small in… CONTINUE READING

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