Article
The BARD1 Cys557Ser variant and breast cancer risk in Iceland.
PLoS medicine - 1 Jul 2006
Stacey Simon N, Sulem Patrick, Johannsson Oskar T, Helgason Agnar, Gudmundsson Julius, Kostic Jelena P, Kristjansson Kristleifur, Jonsdottir Thora, Sigurdsson Helgi, Hrafnkelsson Jon, Johannsson Jakob, Sveinsson Thorarinn, Myrdal Gardar, Grimsson Hlynur Niels, Bergthorsson Jon T, Amundadottir Laufey T, Gulcher Jeffrey R, Thorsteinsdottir Unnur, Kong Augustine, Stefansson Kari
Abstract excerpt
BACKGROUND: Most, if not all, of the cellular functions of the BRCA1 protein are mediated through heterodimeric complexes composed of BRCA1 and a related protein, BARD1. Some breast-cancer-associated BRCA1 missense mutations disrupt the function of the BRCA1/BARD1 complex. It is therefore pertinent to determine whether variants of BARD1 confer susceptibility to breast cancer. Recently, a missense BARD1 variant,...
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