Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, Wenan Chen, Chunling Hu, Marc Naven, Kristia Yiangou, Thomas U. Ahearn, Christine B. Ambrosone, Irene Louise Andrulis, Antonis C. Antoniou, Paul Livermore Auer, , Gary Zirpoli
The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.
Nature Communications · May 24, 2025Peer-reviewedGenetic & Genomic Medicine