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Review

Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches

by
Alessandro Mangogna
1,
Giada Munari
2,
Francesco Pepe
3,
Edoardo Maffii
4,
Pierluigi Giampaolino
3,
Giuseppe Ricci
1,5,
Matteo Fassan
2,4,†,
Umberto Malapelle
3,*,† and
Stefania Biffi
1,*,†
1
Obstetrics and Gynecology, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34137 Trieste, Italy
2
Veneto Institute of Oncology, IOV-IRCCS, 35128 Padua, Italy
3
Department of Public Health, University of Naples Federico II, 80131 Naples, Italy
4
Department of Medicine (DIMED), University of Padua, 35128 Padua, Italy
5
Department of Medical, Surgical and Health Science, University of Trieste, 34149 Trieste, Italy
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
J. Pers. Med. 2023, 13(2), 284; https://doi.org/10.3390/jpm13020284
Submission received: 12 January 2023 / Revised: 30 January 2023 / Accepted: 1 February 2023 / Published: 2 February 2023
(This article belongs to the Section Methodology, Drug and Device Discovery)
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Abstract

The inability to efficiently repair DNA double-strand breaks using the homologous recombination repair pathway is defined as homologous recombination deficiency (HRD). This molecular phenotype represents a positive predictive biomarker for the clinical use of poly (adenosine diphosphate [ADP]-ribose) polymerase inhibitors and platinum-based chemotherapy in ovarian cancers. However, HRD is a complex genomic signature, and different methods of analysis have been developed to introduce HRD testing in the clinical setting. This review describes the technical aspects and challenges related to HRD testing in ovarian cancer and outlines the potential pitfalls and challenges that can be encountered in HRD diagnostics.
Keywords: ovarian cancer; homologous recombination deficiency (HRD); homologous recombination repair (HRR); next-generation sequencing (NGS); poly (ADP-ribose) polymerase inhibitor (PARPi); test; assay ovarian cancer; homologous recombination deficiency (HRD); homologous recombination repair (HRR); next-generation sequencing (NGS); poly (ADP-ribose) polymerase inhibitor (PARPi); test; assay

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MDPI and ACS Style

Mangogna, A.; Munari, G.; Pepe, F.; Maffii, E.; Giampaolino, P.; Ricci, G.; Fassan, M.; Malapelle, U.; Biffi, S. Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches. J. Pers. Med. 2023, 13, 284. https://doi.org/10.3390/jpm13020284

AMA Style

Mangogna A, Munari G, Pepe F, Maffii E, Giampaolino P, Ricci G, Fassan M, Malapelle U, Biffi S. Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches. Journal of Personalized Medicine. 2023; 13(2):284. https://doi.org/10.3390/jpm13020284

Chicago/Turabian Style

Mangogna, Alessandro, Giada Munari, Francesco Pepe, Edoardo Maffii, Pierluigi Giampaolino, Giuseppe Ricci, Matteo Fassan, Umberto Malapelle, and Stefania Biffi. 2023. "Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches" Journal of Personalized Medicine 13, no. 2: 284. https://doi.org/10.3390/jpm13020284

APA Style

Mangogna, A., Munari, G., Pepe, F., Maffii, E., Giampaolino, P., Ricci, G., Fassan, M., Malapelle, U., & Biffi, S. (2023). Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches. Journal of Personalized Medicine, 13(2), 284. https://doi.org/10.3390/jpm13020284

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