Article
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
American journal of human genetics - 1 Dec 2002
Foulkes W D, Thiffault I, Gruber S B, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood C M T, Bonner J D, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae F A, Gaff C L, Paillerets B Bressac-De, Gregersen P K, Weitzel J N, Gordon P H, MacNamara E, King M-C, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis N A
Abstract excerpt
Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by mutations in the mismatch-repair genes. We report here the identification and characterization of a founder mutation in MSH2 in the Ashkenazi Jewish population. We identified a nucleotide substitution, MSH2*1906G-->C, which results in...
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