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

Abstract excerpt

Breast cancer (BRCA) affects one in eight women, and while past studies have identified susceptibility genes and variants, those driving early-onset disease remain opaque. We introduce EA-Pathways, a control-free association method that aggregates ultra-rare germline coding variants weighted by Evolutionary Action to detect functional impact distribution biases in genes and pathways. In UK Biobank women with...

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