A High-Throughput Functional Complementation Assay for Classification of <i>BRCA1</i> Missense Variants

Abstract

BRCA1 VUSs are frequently found in patients with hereditary breast or ovarian cancer and present a serious problem for clinical geneticists. This article describes the generation, validation, and application of a reliable high-throughput assay for the functional classification of BRCA1 sequence variants of uncertain significance.