Article
Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.
Journal of the National Cancer Institute - 1 Jul 2021
Borde Julika, Ernst Corinna, Wappenschmidt Barbara, Niederacher Dieter, Weber-Lassalle Konstantin, Schmidt Gunnar, Hauke Jan, Quante Anne S, Weber-Lassalle Nana, Horváth Judit, Pohl-Rescigno Esther, Arnold Norbert, Rump Andreas, Gehrig Andrea, Hentschel Julia, Faust Ulrike, Dutrannoy Véronique, Meindl Alfons, Kuzyakova Maria, Wang-Gohrke Shan, Weber Bernhard H F, Sutter Christian, Volk Alexander E, Giannakopoulou Olga, Lee Andrew, Engel Christoph, Schmidt Marjanka K, Antoniou Antonis C, Schmutzler Rita K, Kuchenbaecker Karoline, Hahnen Eric
Abstract excerpt
BACKGROUND: Genome-wide association studies suggest that the combined effects of breast cancer (BC)-associated single nucleotide polymorphisms (SNPs) can improve BC risk stratification using polygenic risk scores (PRSs). The performance of PRSs in genome-wide association studies-independent clinical cohorts is poorly studied in individuals carrying mutations in moderately penetrant BC predisposition genes such as...
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