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Title:

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Document type:
Article; Journal Article
Author(s):
Hakkaart, Christopher; Pearson, John F; Marquart, Louise; Dennis, Joe; Wiggins, George A R; Barnes, Daniel R; Robinson, Bridget A; Mace, Peter D; Aittomäki, Kristiina; Andrulis, Irene L; Arun, Banu K; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Belhadj, Sami; Berger, Lieke; Blok, Marinus J; Boonen, Susanne E; Borde, Julika; Bradbury, Angela R; Brunet, Joan; Buys, Saundra S; Caligo, Maria A; Campbell, Ian; Chung, Wendy K; Claes, Kathleen B M; Collonge-Rame, Marie-Agnès; Cook, Jackie...     »
Abstract:
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk est...     »
Journal title abbreviation:
Commun Biol
Year:
2022
Journal volume:
5
Journal issue:
1
Fulltext / DOI:
doi:10.1038/s42003-022-03978-6
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/36203093
TUM Institution:
1072; 183; 597; Klinik und Poliklinik für Frauenheilkunde
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