This study shows Cep104 is essential for neural tube closure in Xenopus by regulating apical constriction and microtubule stability, beyond its known role in cilia and hedgehog signaling.

bioRxiv · Jun 12, 2025 · PreprintCell Biology

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

Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

Naomi Wilcox, Martine Dumont, Anna González‐Neira, Sara Carvalho, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, Penny Soucy, Stéphane Dubois, Rocío Núñez‐Torres, Guillermo Pita, M. Rosario Alonso, Núria Álvarez, Caroline Baynes, Heiko Becher, , Jacques Simard

The paper uses whole-exome sequencing data to identify novel breast cancer susceptibility genes and assess the contribution of coding variants to breast cancer risk.

medRxiv · Jun 17, 2022 · PreprintGenetic & Genomic Medicine