Article
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.
JAMA - 11 Feb 2004
Lynch Henry T, Coronel Stephanie M, Okimoto Ross, Hampel Heather, Sweet Kevin, Lynch Jane F, Barrows Ali, Wijnen Juul, van der Klift Heleen, Franken Patrick, Wagner Anja, Fodde Riccardo, de la Chapelle Albert
Abstract excerpt
CONTEXT: Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is caused by mutations in the mismatch repair genes and confers an extraordinarily high risk of colorectal, endometrial, and other cancers. However, while carriers of these mutations should be identified, counseled, and offered clinical surveillance, at present the mutations are not tested for in mutation analyses....
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