High-Throughput Functional Evaluation of BRCA2 Variants of Unknown Significance
M. Ikegami, S. Kohsaka, T. Ueno, Y. Momozawa, K. Tamura, A. Shimomura, N. Hosoya, H. Kobayashi, S. Tanaka, H. Mano
The paper develops a high-throughput method to evaluate BRCA2 variants of unknown significance, classifying 186 variants into neutral, intermediate, or deleterious categories with high sensitivity and specificity.
bioRxiv · Jan 17, 2020Cancer Biology