Oleksii Nikolaienko, Hans P Eikesdal, Elisabet Ognedal, Bjørnar Gilje, Steinar Lundgren, Egil S Blix, Helge Espelid, Jürgen Geisler, Stephanie Geisler, Emiel A M Janssen, Synnøve Yndestad, Laura Minsaas, Beryl Leirvaag, Reidun Lillestøl, Stian Knappskog, Per E Lønning
BACKGROUND: Normal cell BRCA1 epimutations have been associated with increased risk of triple-negative breast cancer (TNBC). However, the fraction of TNBCs that may have BRCA1 epimutations as their underlying cause is unknown. Neither are the time of occurrence and the potential inheritance patterns of BRCA1 epimutations established. METHODS: To address these questions, we analyzed BRCA1 methylation status in breast cancer tissue and matched white blood cells (WBC) from 408 patients with 411 primary breast cancers, including 66 TNBCs, applying a highly sensitive sequencing assay, allowing allele-resolved methylation assessment...
December 6, 2023: Genome Medicine