Evidence map›Paper›PMID 41590330›Full record

ArticleCurrent oncology (Toronto, Ont.)2025

Germline

Sebastian Skoczylas, Tomasz Płoszaj, Izabela Dróżdż, Hanna Moczulska, Marcin Serafin, Katarzyna Piekarska, Olga Wojtyczka, Karolina Żeżawska, Agnieszka Zmysłowska

Abstract read
In one paragraph

Article in Current oncology (Toronto, Ont.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Sebastian SkoczylasDepartment of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.ORCID 0000-0003-2760-2397
Tomasz PłoszajDepartment of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.ORCID 0000-0002-9503-278X
Izabela DróżdżDepartment of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.ORCID 0000-0003-1956-5063
Hanna MoczulskaDepartment of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.ORCID 0000-0002-1815-3326
Marcin SerafinDepartment of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.
Katarzyna PiekarskaStudent Society for Genetic Counselling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.ORCID 0009-0001-9590-9019
Olga WojtyczkaStudent Society for Genetic Counselling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.ORCID 0000-0003-4754-7524
Karolina ŻeżawskaStudent Society for Genetic Counselling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.
Agnieszka ZmysłowskaDepartment of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.ORCID 0000-0001-8781-4469

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesPathogenic and likely pathogenic variants in the

methodsNext-generation sequencing (NGS) was used to analyze the coding regions of these two genes, with copy number variation (CNV) analysis.

resultsA total of 16 unique to our cohort variants classified as pathogenic or likely pathogenic were identified in 22 patients, including one novel loss-of-function variant in

conclusionsThese results emphasize the difficulties involved in molecular diagnostics and indicate the need for further research into new predictive models for patients with hereditary breast and ovarian cancer.

Indexed as

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsDNA Copy Number VariationsGerm-Line MutationOvarian NeoplasmsAdultAgedFemaleGenes, BRCA1Genetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansLoss of Function MutationMiddle AgedPolandBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2breast cancerCNVfamilial riskNGSovarian cancer

Identifiers

PMID41590330
PMCPMC12839688

What OpenQuestion holds

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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.