Evidence map›Paper›PMID 39148954›Full record

ArticlePathology oncology research : POR2024

Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.

László Baráti, Anita Maász, Alexandra Mikó, Éva Bércesi, Sultan Al Kalbani, Judit Bene, Sebestyén Kovács, László Mangel, Kinga Hadzsiev

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Article in Pathology oncology research : POR, 2024. 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

9 authors.

László BarátiDepartment of Medical Genetics, Clinical Centre, Medical School, University of Pécs, Pécs, Hungary.
Anita MaászDepartment of Medical Genetics, Clinical Centre, Medical School, University of Pécs, Pécs, Hungary.
Alexandra MikóDepartment of Medical Genetics, Clinical Centre, Medical School, University of Pécs, Pécs, Hungary.
Éva BércesiDepartment of Oncotherapy, Clinical Centre, Medical School, University of Pécs, Pécs, Hungary.
Sultan Al KalbaniDepartment of Medical Genetics, Clinical Centre, Medical School, University of Pécs, Pécs, Hungary.
Judit BeneDepartment of Medical Genetics, Clinical Centre, Medical School, University of Pécs, Pécs, Hungary.
Sebestyén KovácsUrology Clinic, Clinical Centre, University of Pécs, Pécs, Hungary.
László MangelDepartment of Oncotherapy, Clinical Centre, Medical School, University of Pécs, Pécs, Hungary.
Kinga HadzsievDepartment of Medical Genetics, Clinical Centre, Medical School, University of Pécs, Pécs, Hungary.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary breast and ovarian cancer is a well-known genetic condition, inherited mainly in an autosomal dominant way, which elevates the risk of developing malignancies at a young age in heterozygous carriers. Advances in new generation sequencing have enabled medical professionals to determine whether a patient is harbouring mutations in moderate- or high penetrance susceptibility genes. We conducted a retrospective analysis among 275 patients who underwent genetic counselling and multigene panel testing for hereditary breast and ovarian cancer syndrome in our department. From these patients 74.5% (205/275) were affected by some type of malignancy, while the remaining 25.5% (70/275) had a positive family history of different cancers, suggesting a genetic predisposition. These tests confirmed a genetic variant in 29.8% and 28.6% of these patient groups respectively. The results also mirrored our general knowledge concerning the genetic background of hereditary breast and ovarian cancer, as variants in either one of the

Indexed as

BRCA1 ProteinBRCA2 ProteinGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingMutationOvarian NeoplasmsAdultAgedAntigens, CDBiomarkers, TumorBreast NeoplasmsCadherinsFemaleGenetic CounselingGenetic TestingHereditary Breast and Ovarian Cancer SyndromeAntigens, CDBiomarkers, TumorBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanCadherinsCDH1 protein, humanBRCA1BRCA2HBOCmultigene panel testingnew generation sequencing

Identifiers

PMID39148954
PMCPMC11324426

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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.