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July 15, 2025

Pathogenic BRCA1 DBD variants exhibit altered DNA binding affinities and susceptibility to menadione

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Authors

ECEmma CismasELEsme LowryVSVereena Salib

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Overview

Research demonstrates altered dna binding in brca1 variants affecting dna damage response in human cells, suggesting implications for breast cancer susceptibility.

Key Points

  • Pathogenic brca1 variants exhibit altered dna binding affinities affecting their repair function.
  • Affinities for ssDNA, dsDNA, and G-quadruplex were measured through biolayer interferometry.
  • The study analyzed overexpression effects on dna damage response in HEK cells for several brca1 variants.
  • Understanding these mutations helps clarify their role in breast cancer susceptibility and treatment responses.

Cite This Study

Cismas et al. (2025) studied this question.

synapsesocial.com/papers/689a02bce6551bb0af8cc607https://doi.org/10.1101/2025.07.10.664210
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