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

Author:

Mangogna Alessandro1ORCID,Munari Giada2,Pepe Francesco3ORCID,Maffii Edoardo4,Giampaolino Pierluigi3,Ricci Giuseppe15ORCID,Fassan Matteo24ORCID,Malapelle Umberto3ORCID,Biffi Stefania1ORCID

Affiliation:

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

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.

Funder

Italian Health Ministry/Vesneto region research program

AIRC 5 per mille 2019

Italian Ministry of Health

Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy

Publisher

MDPI AG

Subject

Medicine (miscellaneous)

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