Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications

Muthiah Bose; Elangoli Ebrahimkutty Faseela; Maria Rossing; Claus Storgaard Sørensen

doi:10.1038/s41523-026-00949-6

Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications

Muthiah Bose
, Elangoli Ebrahimkutty Faseela
, Maria Rossing^*
, Claus Storgaard Sørensen^*

^*Corresponding author for this work

MDxCore DIA

Abstract

Genetic variants perturbing BRCA1 and BRCA2 function are linked to hereditary breast and ovarian cancers. As BRCA1 and BRCA2 are critical for homologous recombination-mediated DNA repair, interpretation of variants of uncertain significance is essential. Here, we review established and emerging assays used to functionally characterize BRCA1 and BRCA2 variants and highlight the strengths and limitations of each approach, as well as their general relevance to variant classification and clinical applications.

Original language	English
Article number	102
Journal	npj Breast Cancer
Volume	12
Issue number	1
ISSN	2374-4677
DOIs	https://doi.org/10.1038/s41523-026-00949-6
Publication status	Published - Dec 2026

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10.1038/s41523-026-00949-6Licence: CC BY-NC-ND

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abstract = "Genetic variants perturbing BRCA1 and BRCA2 function are linked to hereditary breast and ovarian cancers. As BRCA1 and BRCA2 are critical for homologous recombination-mediated DNA repair, interpretation of variants of uncertain significance is essential. Here, we review established and emerging assays used to functionally characterize BRCA1 and BRCA2 variants and highlight the strengths and limitations of each approach, as well as their general relevance to variant classification and clinical applications.",

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AB - Genetic variants perturbing BRCA1 and BRCA2 function are linked to hereditary breast and ovarian cancers. As BRCA1 and BRCA2 are critical for homologous recombination-mediated DNA repair, interpretation of variants of uncertain significance is essential. Here, we review established and emerging assays used to functionally characterize BRCA1 and BRCA2 variants and highlight the strengths and limitations of each approach, as well as their general relevance to variant classification and clinical applications.

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Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications

Abstract

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