Article
High-resolution functional mapping of RAD51C by saturation genome editing.
Cell - 3 Oct 2024
Olvera-León Rebeca, Zhang Fang, Offord Victoria, Zhao Yajie, Tan Hong Kee, Gupta Prashant, Pal Tuya, Robles-Espinoza Carla Daniela, Arriaga-González Fernanda G, Matsuyama Larissa Satiko Alcantara Sekimoto, Delage Erwan, Dicks Ed, Ezquina Suzana, Rowlands Charlie F, Turnbull Clare, Pharoah Paul, Perry John R B, Jasin Maria, Waters Andrew J, Adams David J
Abstract excerpt
Pathogenic variants in RAD51C confer an elevated risk of breast and ovarian cancer, while individuals homozygous for specific RAD51C alleles may develop Fanconi anemia. Using saturation genome editing (SGE), we functionally assess 9,188 unique variants, including >99.5% of all possible coding sequence single-nucleotide alterations. By computing changes in variant abundance and Gaussian mixture modeling (GMM), we...
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