Homologous recombination deficiency testing for brca-like tumors: The road to clinical validation

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Germline BRCA mutations result in homologous recombination deficiency (HRD) in hereditary breast and ovarian cancer, as well as several types of sporadic tumors. The HRD phenotype makes these tumors sensitive to DNA double strand break-inducing agents, including poly-(ADPribose)-polymerase (PARP) inhibitors. Interestingly, a subgroup of cancers without a BRCA mutation also shows an HRD phenotype. Various methods for selecting patients with HRD tumors beyond BRCA-mutations have been explored. These methods are mainly based on DNA sequencing or functional characteristics of the tumor. We here discuss the various tests and the status of their clinical validation.

Original languageEnglish
Article number1004
Pages (from-to)1-23
Number of pages23
Issue number5
Publication statusPublished - 28 Feb 2021

Bibliographical note

Funding Information:
Funding: This work was supported by the Gravitation program CancerGenomiCs.nl from the Netherlands Organisation for Scientific Research (NWO), funding from the Dutch Cancer Society (Alpe d’Huzes grant number EMCR 2014-7048) and is part of the Oncode Institute, which is partly financed by the Dutch Cancer Society.

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.


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