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

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...

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Autores principales: Mangogna, Alessandro, Munari, Giada, Pepe, Francesco, Maffii, Edoardo, Giampaolino, Pierluigi, Ricci, Giuseppe, Fassan, Matteo, Malapelle, Umberto, Biffi, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968181/
https://www.ncbi.nlm.nih.gov/pubmed/36836518
http://dx.doi.org/10.3390/jpm13020284
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author Mangogna, Alessandro
Munari, Giada
Pepe, Francesco
Maffii, Edoardo
Giampaolino, Pierluigi
Ricci, Giuseppe
Fassan, Matteo
Malapelle, Umberto
Biffi, Stefania
author_facet Mangogna, Alessandro
Munari, Giada
Pepe, Francesco
Maffii, Edoardo
Giampaolino, Pierluigi
Ricci, Giuseppe
Fassan, Matteo
Malapelle, Umberto
Biffi, Stefania
author_sort Mangogna, Alessandro
collection PubMed
description 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.
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spelling pubmed-99681812023-02-27 Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches Mangogna, Alessandro Munari, Giada Pepe, Francesco Maffii, Edoardo Giampaolino, Pierluigi Ricci, Giuseppe Fassan, Matteo Malapelle, Umberto Biffi, Stefania J Pers Med Review 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. MDPI 2023-02-02 /pmc/articles/PMC9968181/ /pubmed/36836518 http://dx.doi.org/10.3390/jpm13020284 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Mangogna, Alessandro
Munari, Giada
Pepe, Francesco
Maffii, Edoardo
Giampaolino, Pierluigi
Ricci, Giuseppe
Fassan, Matteo
Malapelle, Umberto
Biffi, Stefania
Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches
title Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches
title_full Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches
title_fullStr Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches
title_full_unstemmed Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches
title_short Homologous Recombination Deficiency in Ovarian Cancer: from the Biological Rationale to Current Diagnostic Approaches
title_sort homologous recombination deficiency in ovarian cancer: from the biological rationale to current diagnostic approaches
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968181/
https://www.ncbi.nlm.nih.gov/pubmed/36836518
http://dx.doi.org/10.3390/jpm13020284
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