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

Sanna-Maria Karppinen ,Tarja Ikonen ,Torben A Kruse ,Katri Pylkäs ,Johanna Schleutker ,Katja Backenhorn ,Kirsi Syrjäkoski ,Rósa B Barkardóttir ,Juha Kere ,Hannele Erkko ,Åke Borg ,Lauri A Aaltonen ,Mads Thomassen ,Thomas Vognbjerg Sydenham ,Mervi Grip ,Guðrún Jóhannesdóttir ,Bjarni A Agnarsson ,Anne‐Marie Gerdes ,Katrin Rapakko ,Aðalgeir Arason ,Anne Kallioniemi ,Pål Møller ,Robert Winqvist

doi:10.1136/jmg.2006.041731

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

Sanna-Maria Karppinen , Tarja Ikonen + Show 21 more

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https://doi.org/10.1136/jmg.2006.041731

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Journal: Journal of Medical Genetics	Publication Date: Jul 6, 2006
Citations: 44

Affiliation: University of Oulu, Oulu University Hospital, Tampere University Hospital, Tampere University, Odense University Hospital, Lund University, National University Hospital of Iceland, University of Helsinki, Norwegian Cancer Society

#Breast Cancer #Ovarian Cancer + Show 8 more

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Abstract

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...

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