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On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
Hamel N, Feng BJ, Foretova L, Stoppa-Lyonnet D, Narod SA, Imyanitov E, Sinilnikova O, Tihomirova L, Lubinski J, Gronwald J, Gorski B, Hansen Tv, Nielsen FC, Thomassen M, Yannoukakos D, Konstantopoulou I, Zajac V, Ciernikova S, Couch FJ, Greenwood CM, Goldgar DE, Foulkes WD. Hamel N, et al. Among authors: greenwood cm. Eur J Hum Genet. 2011 Mar;19(3):300-6. doi: 10.1038/ejhg.2010.203. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119707 Free PMC article.
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. Foulkes WD, et al. Among authors: greenwood cm. Am J Hum Genet. 2002 Dec;71(6):1395-412. doi: 10.1086/345075. Epub 2002 Nov 26. Am J Hum Genet. 2002. PMID: 12454801 Free PMC article.
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.
Castellsagué E, Liu J, Volenik A, Giroux S, Gagné R, Maranda B, Roussel-Jobin A, Latreille J, Laframboise R, Palma L, Kasprzak L, Marcus VA, Breguet M, Nolet S, El-Haffaf Z, Australie K, Gologan A, Aleynikova O, Oros-Klein K, Greenwood C, Mes-Masson AM, Provencher D, Tischkowitz M, Chong G, Rousseau F, Foulkes WD. Castellsagué E, et al. Clin Genet. 2015 Jun;87(6):536-42. doi: 10.1111/cge.12526. Epub 2014 Nov 22. Clin Genet. 2015. PMID: 25318681
351 results