Evidence map›Paper›PMID 42498519›Full record

ArticleJournal of medical genetics2026

Potential advantage of clinical exome sequencing in

Anastasia Dell'Elice, Claudia Palmarini, Federico Anaclerio, Lucrezia Pilenzi, Giuseppe Calabrese, Chiara Palka, Nicola Tinari, Antonino Grassadonia, Patrizia Ballerini, Simona Grossi and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2026. 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. Review
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

16 authors.

Anastasia Dell'EliceCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Claudia PalmariniCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Federico AnaclerioDepartment of Neurosciences, Imaging and Clinical Sciences, 'G. d'Annunzio' University of Chieti-Pescara, Chieti, Italy federico.anaclerio@unich.it.ORCID http://orcid.org/0009-0006-9056-2825
Lucrezia PilenziCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Giuseppe CalabreseDepartment of Hematology, Pescara Hospital, Pescara, Italy.
Chiara PalkaUOC Genetica Medica, SS Annunziata Hospital, Chieti, Italy.
Nicola TinariCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Antonino GrassadoniaCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Patrizia BalleriniCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Simona GrossiBreast Unit, PO 'G. Bernabeo', Chieti, Italy.
Marco VitaliBreast Unit, PO 'G. Bernabeo', Chieti, Italy.
Lorenzo SecondiPlastic and Reconstructive Surgery, Tor Vergata University, Chieti, Italy.
Paolo AmerioDermatology Department of Medicine and Aging Science, University of Chieti Pescara, Chieti, Italy.
Valentina GattaCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Liborio StuppiaCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.
Ivana AntonucciCenter for Advanced Studies and Technology (CAST), d'Annunzio" University of Chieti-Pescara, Chieti, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary cancer syndromes (HCSs) account for approximately 5-10% of all cancers and are frequently associated with pathogenic variants (PVs) in genes such as

methodsThis retrospective study included 500 high-risk patients who previously tested negative for

resultsWithin the ASCO panel, PV/LPVs were identified in 9% of patients while 35% carried variants of uncertain significance. CES identified additional PVs/LPVs in 5% of patients in genes not currently included in ASCO-recommended surveillance panels, such as

conclusionsCES may provide additional exploratory genomic information in selected high-risk

Indexed as

BRCA1 ProteinBRCA2 ProteinExome SequencingGenetic Predisposition to DiseaseNeoplastic Syndromes, HereditaryAdultAgedFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedRetrospective StudiesBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanGenetics, MedicalGenetic TestingHuman GeneticsSequence Analysis, DNA

Identifiers

PMID42498519
PMCPMC13638338

What OpenQuestion holds

Textmetadata
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Registered trials

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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.