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The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays

ABSTRACT: In this study, we used multiplexed DNA repair assays of variants in the BRCA1 carboxy-terminus to functionally characterize 2271 variants for homology-directed repair function (HDR) and 1427 variants for cisplatin resistance (CR). We found a high level of consistent results in the two multiplexed functional assays with non-functional variants located within regions of the BRCA1 protein necessary for its tumor suppression activity.

ORGANISM(S): Homo sapiens

PROVIDER: GSE188426 | GEO | 2022/01/31

REPOSITORIES: GEO

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