Evidence map›Paper›PMID 41009998›Full record

ArticleGenes2025

Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study.

Alessia Perrucci, Maria De Bonis, Giulia Maneri, Claudio Ricciardi Tenore, Paola Concolino, Matteo Corsi, Alessandra Conca, Jessica Evangelista, Alessia Piermattei, Camilla Nero and 4 more

Abstract readComparative Study
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Alessia PerrucciDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.
Maria De BonisDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.
Giulia ManeriDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-6455-8973
Claudio Ricciardi TenoreDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.
Paola ConcolinoDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-0523-5744
Matteo CorsiDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.
Alessandra ConcaDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.
Jessica EvangelistaDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.
Alessia PiermatteiPathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0001-7164-4952
Camilla NeroUnit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-4442-4046
Luciano GiacòBioinformatics Research Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0003-0657-4323
Elisa De PaolisDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-0780-0153
Anna FagottiUnit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0001-5579-335X
Angelo MinucciDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-0833-4334

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCopy number variations (CNVs), also referred to as large genomic rearrangements (LGRs), represent a crucial component of

methodsThis study evaluated 40 FFPE ovarian cancer (OC) samples from patients undergoing

resultsAmong the 40 analyzed samples (17 CNV-positive and 23 CNV-negative for

conclusionsThese findings support the clinical utility of NGS-based CNV analysis in FFPE samples when combined with appropriate bioinformatics tools. Integrating visual inspection of CNV plots with automated CNV calling improves the reliability of CNV detection and enhances the interpretation of results from tumor tissue. Accurate CNV detection directly from tumor tissue may reduce the need for additional germline testing, thus shortening turnaround times. Nevertheless, blood-based testing remains mandatory to determine whether detected

Indexed as

BRCA1 ProteinBRCA2 ProteinDNA Copy Number VariationsGene RearrangementHigh-Throughput Nucleotide SequencingOvarian NeoplasmsAdultFemaleGenetic TestingHumansMiddle AgedParaffin EmbeddingBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA genescopy number variationsDiatech Myriapod® NGS BRCA1/2 panel kitFPG500large genomic rearrangementsNGSovarian cancerSOPHiA DDM™ Homologous Recombination Solution

Identifiers

PMID41009998
PMCPMC12469499

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.