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Article

Structure-based functional analysis of BRCA1 RING domain variants: Concordance of computational mutagenesis, experimental assay, and clinical data.

Biophysical chemistry - 1 Nov 2020

Masso Majid, Bansal Anirudh, Bansal Arnav, Henderson Andrea

Abstract excerpt

A significant impediment to the improvement of clinical outcomes in treating breast and ovarian cancers rests with the lack of available interpretations for BRCA1 variants of unknown significance. Two research groups recently implemented large-scale functional assays for quantifying effects of single missense mutations on homology-directed DNA repair activity of BRCA1 variants, which is critical for tumor...

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PMID: 32916545
DOI: 10.1016/j.bpc.2020.106442

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