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Document type:
journal article 
Author(s):
Easton, Douglas F; Lesueur, Fabienne; Decker, Brennan; Michailidou, Kyriaki; Li, Jun; Allen, Jamie; Luccarini, Craig; Pooley, Karen A; Shah, Mitul; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Ahmad, Jamil; Thompson, Ella R; Damiola, Francesca; Pertesi, Maroulio; Voegele, Catherine; Mebirouk, Noura; Robinot, Nivonirina; Durand, Geoffroy; Forey, Nathalie; Luben, Robert N; Ahmed, Shahana; Aittomäki, Kristiina; Anton-Culver, Hoda; Arndt, Volker; Australian Ovarian Cancer Study Group; Baynes, Caroline;...    »
 
Title:
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 
Abstract:
BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction.We evaluated a truncating variant, p.A...    »
 
Journal title abbreviation:
J Med Genet 
Year:
2016 
Journal volume:
53 
Journal issue:
Pages contribution:
298-309 
Language:
eng 
Print-ISSN:
0022-2593 
TUM Institution:
Frauenklinik und Poliklinik