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

Marjolijn Ladan; Dik van Gent; Agnes Jager

doi:10.3390/cancers13051004

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

Marjolijn Ladan
, Dik van Gent
, Agnes Jager

Research output: Contribution to journal › Article › Academic › peer-review

37 Citations (Scopus)

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Abstract

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 language	English
Article number	1004
Pages (from-to)	1-23
Number of pages	23
Journal	Cancers
Volume	13
Issue number	5
DOIs	https://doi.org/10.3390/cancers13051004
Publication status	Published - 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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title = "Homologous recombination deficiency testing for brca-like tumors: The road to clinical validation",

abstract = "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.",

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AB - 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.

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

Abstract

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