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BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition

✍ Scribed by Vahteristo, Pia; Syrjäkoski, Kirsi; Heikkinen, Tuomas; Eerola, Hannaleena; Aittomäki, Kristiina; von Smitten, Karl; Holli, Kaija; Blomqvist, Carl; Kallioniemi, Olli-Pekka; Nevanlinna, Heli

Book ID: 110026546
Publisher: Nature Publishing Group
Year: 2005
Tongue: English
Weight: 89 KB
Volume: 14
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5201542

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## Abstract The genes predisposing to familial breast cancer are largely unknown, but 5 of the 6 known genes are involved in DNA damage repair. RAD50 is part of a highly conserved complex important in recognising, signalling and repairing DNA double‐strand breaks. Recently, a truncating mutation in