Article
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Human mutation - 1 Apr 2011
Kuiper Roland P, Vissers Lisenka E L M, Venkatachalam Ramprasath, Bodmer Danielle, Hoenselaar Eveline, Goossens Monique, Haufe Aline, Kamping Eveline, Niessen Renée C, Hogervorst Frans B L, Gille Johan J P, Redeker Bert, Tops Carli M J, van Gijn Marielle E, van den Ouweland Ans M W, Rahner Nils, Steinke Verena, Kahl Philip, Holinski-Feder Elke, Morak Monika, Kloor Matthias, Stemmler Susanne, Betz Beate, Hutter Pierre, Bunyan David J, Syngal Sapna, Culver Julie O, Graham Tracy, Chan Tsun L, Nagtegaal Iris D, van Krieken J Han J M, Schackert Hans K, Hoogerbrugge Nicoline, van Kessel Ad Geurts, Ligtenberg Marjolijn J L
Abstract excerpt
Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific epigenetic silencing of the neighboring DNA mismatch repair gene MSH2 in tissues expressing EPCAM. Here we screened a cohort of unexplained Lynch-like families for the presence of EPCAM deletions. We identified 27 novel independent MSH2-deficient families from...
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