Qianqian Guo, Shuting Ji, Kazuma Takeuchi, Wataru Urasaki, Asuka Suzuki, Yusuke Iwasaki, Hiroko Saito, Zeyu Xu, Masami Arai, Seigo Nakamura, Yukihide Momozawa, Natsuko Chiba, Yoshio Miki, Masaaki Matsuura, Shigeaki Sunada
Numerous variants of unknown significance (VUSs) exist in hereditary breast and ovarian cancers. Although multiple methods have been developed to assess the significance of BRCA1/2 variants, functional discrepancies among these approaches remain. Therefore, a comprehensive functional evaluation system for these variants should be established. We performed conventional homologous recombination (HR) assays for 50 BRCA1 and 108 BRCA2 VUSs and complementarily predicted VUSs using a statistical logistic regression prediction model that integrated six in silico functional prediction tools...
September 20, 2023: Journal of Human Genetics