Article

Integrating breast tumor homologous recombination deficiency status to aid germline<i>BRCA1</i>and<i>BRCA2</i>variant classification

2025-06-13

Abstract excerpt

<h4>Summary</h4> Pathogenic germline variants in certain genes are associated with somatic tumor mutation signatures. The use of somatic tumor mutation data has the potential to improve the identification of true pathogenic variants but remains underexplored. We investigated the integration of tumor homologous recombination (HR) deficiency status as a predictor of pathogenicity for germline BRCA1 and BRCA2 variant...

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Literature Corpus work: 40e69dd0-85bb-5a39-a401-229478ffabdc
DOI: 10.1101/2025.06.12.25329237

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