Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program

EA-Pathways, a control-free ultra-rare variant association method, recovers breast cancer risk pathways and genes from the germlines of affected women in the UK Biobank. A portion of these pathways is associated with earlier disease, and this extends to affected women of multiple ancestries in the All of Us Research Program.