Article
Origins and prevalence of the American Founder Mutation of MSH2.
Cancer research - 1 Apr 2008
Clendenning Mark, Baze Mark E, Sun Shuying, Walsh Kyle, Liyanarachchi Sandya, Fix Dan, Schunemann Victoria, Comeras Ilene, Deacon Molly, Lynch Jane F, Gong Gordon, Thomas Brittany C, Thibodeau Stephen N, Lynch Henry T, Hampel Heather, de la Chapelle Albert
Abstract excerpt
Large germline deletions within the mismatch repair gene MSH2 account for a significant proportion (up to 20%) of all deleterious mutations of this gene which are associated with Lynch syndrome. An exons 1 to 6 deletion of MSH2, originally reported in nine families, has been associated with a founding event within the United States, which genealogic studies had previously dated to 1727, and the number of present...
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