Integrating breast tumor homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification
Cristina Fortuño, Jia Zhang, Lambros T. Koufariotis, Georgina E. Hollway, Scott Wood, John V. Pearson, Peter T. Simpson, Sunil R. Lakhani, Amy E. McCart Reed, Heather Thorne, Gregory Bruce Mann, Anita Rohini Skandarajah, Lisa Devereux, Qihong Zhao, Dilanka L De Silva, , Nicola Waddell
This paper integrates tumor homologous recombination deficiency status with germline BRCA1 and BRCA2 variant classification to improve pathogenicity prediction.
medRxiv · Jun 12, 2025 · PreprintGenetic & Genomic Medicine