Article
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC cancer - 27 Jun 2022
Borde Julika, Laitman Yael, Blümcke Britta, Niederacher Dieter, Weber-Lassalle Konstantin, Sutter Christian, Rump Andreas, Arnold Norbert, Wang-Gohrke Shan, Horváth Judit, Gehrig Andrea, Schmidt Gunnar, Dutrannoy Véronique, Ramser Juliane, Hentschel Julia, Meindl Alfons, Schroeder Christopher, Wappenschmidt Barbara, Engel Christoph, Kuchenbaecker Karoline, Schmutzler Rita K, Friedman Eitan, Hahnen Eric, Ernst Corinna
Abstract excerpt
BACKGROUND: 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...
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