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05.10.2023 | Review and Perspectives

SIUrO best practice recommendations to optimize BRCA 1/2 gene testing from DNA extracted from bone biopsy in mCRPC patients (BRCA Optimal Bone Biopsy Procedure: BOP)

verfasst von: Alessia Cimadamore, Pasquale Rescigno, Vincenza Conteduca, Anna Caliò, Massimiliano Allegritti, Valentina Calò, Ilaria Montagnani, Roberta Lucianò, Margherita Patruno, Sergio Bracarda, on behalf of the Italian Society for Uro-Oncology (SIUrO)

Erschienen in: Virchows Archiv | Ausgabe 5/2023

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Abstract

The main guidelines and recommendations for the implementation of the BRCA1/2 somatic test do not focus on the clinical application of predictive testing on bone metastases, a frequent condition in metastatic prostate cancer, by analyzing the critical issues encountered by laboratory practice. Our goal is to produce a document (protocol) deriving from a multidisciplinary team approach to obtain high quality nucleic acids from biopsy of bone metastases. This document aims to compose an operational check-list of three phases: the pre-analytical phase concerns tumor cellularity, tissue processing, sample preservation (blood/FFPE), fixation and staining, but above all the decalcification process, the most critical phase because of its key role in allowing the extraction of somatic DNA with a good yield and high quality. The analytical phase involves the preparation of the libraries that can be analyzed in various NGS genetic sequencing platforms and with various bioinformatics software for the interpretation of sequence variants. Finally, the post-analytical phase that allows to report the variants of the BRCA1/2 genes in a clear and usable way to the clinician who will use these data to manage cancer therapy with PARP Inhibitors.

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Titel: SIUrO best practice recommendations to optimize BRCA 1/2 gene testing from DNA extracted from bone biopsy in mCRPC patients (BRCA Optimal Bone Biopsy Procedure: BOP)
verfasst von: Alessia Cimadamore
Pasquale Rescigno
Vincenza Conteduca
Anna Caliò
Massimiliano Allegritti
Valentina Calò
Ilaria Montagnani
Roberta Lucianò
Margherita Patruno
Sergio Bracarda
on behalf of the Italian Society for Uro-Oncology (SIUrO)
Publikationsdatum: 05.10.2023
Verlag: Springer Berlin Heidelberg
Erschienen in: Virchows Archiv / Ausgabe 5/2023
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-023-03660-0

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Springer Medizin

SIUrO best practice recommendations to optimize BRCA 1/2 gene testing from DNA extracted from bone biopsy in mCRPC patients (BRCA Optimal Bone Biopsy Procedure: BOP)

Abstract

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

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Springer Medizin

Abstract

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