Evidence map›Paper›PMID 40507299›Full record

ArticleCancers2025

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Anne K Munch, Elisabeth S Feldner, Caroline H Bækgaard, Mie B Larsen, Naja Slemming-Adamsen, Desirée S Boonen, Nanna B Møller, Inge S Pedersen, Thomas V O Hansen, Thorkild Terkelsen and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancers, 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.

Anne K MunchDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.
Elisabeth S FeldnerDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.
Caroline H BækgaardDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.
Mie B LarsenDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.
Naja Slemming-AdamsenDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.
Desirée S BoonenDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.ORCID 0000-0002-2091-813X
Nanna B MøllerDepartment of Clinical Genetics, Aarhus University Hospital, Brendstrupgårdsvej 21C, 8200 Aarhus, Denmark.
Inge S PedersenDepartment of Molecular Diagnostics, Aalborg University Hospital, Reberbansgade 15, 9000 Aalborg, Denmark.ORCID 0000-0002-9902-8040
Thomas V O HansenDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen, Denmark.ORCID 0000-0003-4635-2653
Thorkild TerkelsenDepartment of Clinical Genetics, Aarhus University Hospital, Brendstrupgårdsvej 21C, 8200 Aarhus, Denmark.
Mark BurtonDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.ORCID 0000-0002-3782-5933
Qin HaoDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.
Susanne E BoonenDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.ORCID 0000-0002-7824-2080
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, J.B. Winslows Vej 4, Entrance 24, 5000 Odense, Denmark.

Funding

Independent Research Fund Denmark 10.46540/3188-00032BThe Danish Cancer Society R337-A19545The Odense University Hospital Fund for Pre-graduate Stipends A5478
6 · The paper itself

Abstract

backgroundGene variants of unknown significance (VUSs) present a challenge in genetic counselling. The primary aim of this study was to describe the spectrum of genetic findings in a cohort of 5923 Danish patients with suspected predisposition to hereditary breast and/or ovarian cancer, with a focus on classifying gene variants and investigating their distribution.

methodsThe gene variants were classified using the American College of Medical Genetics (ACMG) guidelines as well as gene-specific guidelines where applicable. The identified VUSs were further examined through association analysis, comparison of the frequencies in this Danish population to those in the Swedish population using gnomAD 2.1, and splice analysis using RNA sequencing.

resultsOf 167 variants that were clinically classified as VUSs prior to this research study, 38 (22.8%) were either up- or downgraded based on the guidelines that were used. We found that 630 patients (10.6%) carried a likely pathogenic or pathogenic variant, mainly in

conclusionsA total of 22.8% of the 167 variants that were observed in this study and which were previously classified as VUSs in a clinical setting were reclassified in this study. In total, 10.6% of the patients with a suspected predisposition to hereditary breast and/or ovarian cancer carried a likely pathogenic or pathogenic variant. The high incidence of VUSs observed in this study reflects the challenges faced in the daily clinical setting.

Indexed as

association analysisbreast cancergeneticshereditaryovarian cancerRNA sequencingsplice analysisvariant of unknown significance

Identifiers

PMID40507299
PMCPMC12153586

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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.