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Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

Clinical management of women carrying a germline pathogenic variant (PV) in the BRCA1/2 genes demands for accurate age-dependent estimators of breast cancer (BC) risks, which were found to be affected by a variety of intrinsic and extrinsic factors. Here we assess the contribution of polygenic risk...

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Main Authors: Borde, Julika (Author) , Laitman, Yael (Author) , Blümcke, Britta (Author) , Niederacher, Dieter (Author) , Weber-Lassalle, Konstantin (Author) , Sutter, Christian (Author) , Rump, Andreas (Author) , Arnold, Norbert (Author) , Wang-Gohrke, Shan (Author) , Horváth, Judit (Author) , Gehrig, Andrea (Author) , Schmidt, Gunnar (Author) , Dutrannoy, Véronique (Author) , Ramser, Juliane (Author) , Hentschel, Julia (Author) , Meindl, Alfons (Author) , Schroeder, Christopher (Author) , Wappenschmidt, Barbara (Author) , Engel, Christoph (Author) , Kuchenbaecker, Karoline (Author) , Schmutzler, Rita K. (Author) , Friedman, Eitan (Author) , Hahnen, Eric (Author) , Ernst, Corinna (Author)
Format: Article (Journal)
Language:English
Published: 27 June 2022
In: BMC cancer
Year: 2022, Volume: 22, Pages: 1-9
ISSN:1471-2407
DOI:10.1186/s12885-022-09780-1
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s12885-022-09780-1
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Author Notes:Julika Borde, Yael Laitman, Britta Blümcke, Dieter Niederacher, Konstantin Weber-Lassalle, Christian Sutter, Andreas Rump, Norbert Arnold, Shan Wang-Gohrke, Judit Horváth, Andrea Gehrig, Gunnar Schmidt, Véronique Dutrannoy, Juliane Ramser, Julia Hentschel, Alfons Meindl, Christopher Schroeder, Barbara Wappenschmidt, Christoph Engel, Karoline Kuchenbaecker, Rita K. Schmutzler, Eitan Friedman, Eric Hahnen and Corinna Ernst
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Summary:Clinical management of women carrying a germline pathogenic variant (PV) in the BRCA1/2 genes demands for accurate age-dependent estimators of breast cancer (BC) risks, which were found to be affected by a variety of intrinsic and extrinsic factors. Here we assess the contribution of polygenic risk scores (PRSs) to the occurrence of extreme phenotypes with respect to age at onset, namely, primary BC diagnosis before the age of 35 years (early diagnosis, ED) and cancer-free survival until the age of 60 years (late/no diagnosis, LD) in female BRCA1/2 PV carriers.
Item Description:Gesehen am 25.08.2022
Physical Description:Online Resource
ISSN:1471-2407
DOI:10.1186/s12885-022-09780-1

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