On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

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 c...

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Main Authors: 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
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062007/
https://ncbi.nlm.nih.gov/pubmed/21119707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.203
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