Article
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
European journal of human genetics : EJHG - 1 Mar 2011
Hamel Nancy, Feng Bing-Jian, Foretova Lenka, Stoppa-Lyonnet Dominique, Narod Steven A, Imyanitov Evgeny, Sinilnikova Olga, Tihomirova Laima, Lubinski Jan, Gronwald Jacek, Gorski Bohdan, Hansen Thomas v O, Nielsen Finn C, Thomassen Mads, Yannoukakos Drakoulis, Konstantopoulou Irene, Zajac Vladimir, Ciernikova Sona, Couch Fergus J, Greenwood Celia M T, Goldgar David E, Foulkes William D
Abstract excerpt
The BRCA1 mutation c.5266dupC was originally described as a founder mutation in the Ashkenazi Jewish (AJ) population. However, this mutation is also present at appreciable frequency in several European countries, which raises intriguing questions about the origins of the mutation. We genotyped 245 carrier families from 14 different population groups (Russian, Latvian, Ukrainian, Czech, Slovak, Polish, Danish,...
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