Article
Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.
International journal of cancer - 1 Nov 2005
Hughes David J, Ginolhac Sophie M, Coupier Isabelle, Barjhoux Laure, Gaborieau Valérie, Bressac-de-Paillerets Brigitte, Chompret Agnès, Bignon Yves-Jean, Uhrhammer Nancy, Lasset Christine, Giraud Sophie, Sobol Hagay, Hardouin Agnès, Berthet Pascaline, Peyrat Jean-Philippe, Fournier Joelle, Nogues Catherine, Lidereau Rosette, Muller Danièle, Fricker Jean-Pierre, Longy Michel, Toulas Christine, Guimbaud Rosine, Yannoukakos Drakoulis, Mazoyer Sylvie, Lynch Henry T, Lenoir Gilbert M, Goldgar David E, Stoppa-Lyonnet Dominique, Sinilnikova Olga M
Abstract excerpt
Marked variation in phenotypic expression among BRCA1 and BRCA2 mutation carriers may be partly explained by modifier genes that influence mutation penetrance. Variation in CAG/CAA repeat lengths coding for stretches of glutamines in the C-terminus of the AIB1 protein (amplified in breast cancer 1, a steroid receptor coactivator) has been proposed to modify the breast cancer risk in women carrying germline BRCA1...
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