Evidence map›Paper›PMID 32468256›Full record

ArticleMolecular biology reports2020

High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment.

Giorgia Mazzuccato, Maria De Bonis, Vittoria Carboni, Claudia Marchetti, Andrea Urbani, Giovanni Scambia, Ettore Capoluongo, Anna Fagotti, Angelo Minucci

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Article in Molecular biology reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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5 · Who and what money

Authors and funding

9 authors at 3 institutions in 2 countries.

Giorgia MazzuccatoMolecular and Genomic Diagnostics Unit, Fondazione Policlinico Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Maria De BonisMolecular and Genomic Diagnostics Unit, Fondazione Policlinico Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Vittoria CarboniDivision of Oncological Gynecology, Department of Women's and Children's Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Claudia MarchettiDivision of Oncological Gynecology, Department of Women's and Children's Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Andrea UrbaniMolecular and Genomic Diagnostics Unit, Fondazione Policlinico Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. andrea.urbani@policlinicogemelli.it.
Giovanni ScambiaDivision of Oncological Gynecology, Department of Women's and Children's Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Ettore CapoluongoUniversità Federico II-CEINGE, Biotecnologie Avanzate, Naples, Italy.
Anna FagottiDivision of Oncological Gynecology, Department of Women's and Children's Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Angelo MinucciMolecular and Genomic Diagnostics Unit, Fondazione Policlinico Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. angelo.minucci@policlinicogemelli.it.ORCID http://orcid.org/0000-0002-0833-4334
Agostino Gemelli University Polyclinic · ITUniversità Cattolica del Sacro Cuore · ITCeinge Biotecnologie Avanzate (Italy) · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Resistance can be the result of secondary tissue variants (STVs), which restore the open reading frame of the germline BRCA allele, producing functional BRCA protein in germline BRCA1/2 (BRCA) pathogenic variant (PV) carriers, treated with platinum-based chemotherapy or poly-(ADP-ribose) polymerase inhibitors (PARP-1). We reported recently a BRCA2 mutant high grade serous ovarian cancer (HGSOC) patient with acquired resistance to the PARP-1 olaparib due to a STV detected by next generation tumor sequencing (NGTS). The aim of this study was to evaluate the versatility of the high-resolution melting analysis (HRMA) obtained by magnetic induction cycler (MIC) to monitor the BRCA2 status in formalin-fixed paraffin-embedded (FFPE) tissue samples of this patient and to compare the results obtained by NGTS. HRMA highlighted the BRCA2 STV previously detected in the IIIrd HGSOC recurrence following the tissue BRCA2 tissue status comparing the high resolution melting profiles (HRMPs). HRMPs differentiate not only BRCA2 alleles, but also their different allele abundance. We underline that (1) the MIC uses a latest generation technology guaranteeing temperature uniformity and maintenance in each well allowing high and accurate performance to obtain reported results and (2) the HRMA maintains a high sensitivity and specificity when it is performed on FFPE samples. Finally, this study represents an additional use of the HRMA, confirming its extreme versatility in the diagnostic environment.

Indexed as

AdultAllelesBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsDNA Mutational AnalysisFemaleGenes, BRCA1Genes, BRCA2Germ-Line MutationHigh-Throughput Nucleotide SequencingHumansMagnetic PhenomenaMutationNeoplasm Recurrence, LocalNucleic Acid DenaturationBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1/2 genesHigh grade serous ovarian cancerHigh resolution melting analysisHigh resolution melting profilesNext generation tumor sequencingPARP-1

Identifiers

PMID32468256
OpenAlexW3028821181

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.