Article
Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies.
Journal of medical genetics - 1 Nov 2006
Karppinen S-M, Barkardottir R B, Backenhorn K, Sydenham T, Syrjäkoski K, Schleutker J, Ikonen T, Pylkäs K, Rapakko K, Erkko H, Johannesdottir G, Gerdes A-M, Thomassen M, Agnarsson B A, Grip M, Kallioniemi A, Kere J, Aaltonen L A, Arason A, Møller P, Kruse T A, Borg A, Winqvist R
Abstract excerpt
BACKGROUND: BARD1 was originally identified as a BRCA1-interacting protein but has also been described in tumour-suppressive functions independent of BRCA1. Several studies have indicated that the BARD1 gene is a potential target for germline changes predisposing to breast and ovarian cancer. The C-terminal Cys557Ser change has previously been uncovered to associate with an increased risk of breast cancer and was...
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