Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.

@article{Schofield2009PopulationbasedDO,
  title={Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.},
  author={Lyn Schofield and Natasha Watson and Fabienne Grieu and Wei Qi Li and Nik Zeps and Jennet M. Harvey and Colin Stewart and Michael Abdo and Jack Goldblatt and Barry J Iacopetta},
  journal={International journal of cancer},
  year={2009},
  volume={124 5},
  pages={1097-102}
}
Approximately 1-2% of colorectal cancers (CRC) arise because of germline mutations in DNA mismatch repair genes, referred to as Lynch syndrome. These tumours show microsatellite instability (MSI) and loss of expression of mismatch repair proteins. Pre-symptomatic identification of mutation carriers has been demonstrated to improve survival; however, there is concern that many are not being identified using current practices. We evaluated population-based MSI screening of CRC in young patients… CONTINUE READING
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