Evidence map›Paper›PMID 42055800›Full record

ArticleJournal of medical genetics2026

Pathogenic mobile element insertion in the

Aleksandra Pfeifer, Jadwiga Zebracka-Gala, Agnieszka Pawlaczek, Artur Zajkowicz, Agata Abramowicz, Karolina Tecza, Agnieszka Kotecka-Blicharz, Hanna Langer-Maciol, Marta Cieslicka, Dagmara Rusinek and 3 more

Abstract read
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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. Not yet cited in PubMed.

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

13 authors.

Aleksandra PfeiferDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland aleksandra.pfeifer@gliwice.nio.gov.pl.ORCID http://orcid.org/0000-0002-0189-9711
Jadwiga Zebracka-GalaDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Agnieszka PawlaczekDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Artur ZajkowiczDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Agata AbramowiczDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Karolina TeczaDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Agnieszka Kotecka-BlicharzDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Hanna Langer-MaciolDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Marta CieslickaDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Dagmara RusinekDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Malgorzata PorcDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Renata CyplinskaDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Malgorzata Oczko-WojciechowskaDepartment of Clinical and Molecular Genetics, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMobile element insertions (MEIs) disrupting coding sequences are rare but clinically significant mutations that are often missed by standard next-generation sequencing (NGS) workflows. Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant tumour predisposition syndrome caused by pathogenic variants in the

methodsPatients included in this study were referred for genetic testing of hereditary cancer syndromes. In a validation of our NGS-based copy number variant detection pipeline, four cases showed discrepancies between NGS and multiplex ligation-dependent probe amplification (MLPA) results. Further investigation using soft-clipped read analysis and the MEI detection tool Scramble revealed an Alu insertion in the

resultsThe apparent exon 2 deletion detected by MLPA was shown to be a false positive caused by an Alu insertion within the probe binding site. LR-WGS confirmed the pathogenic variant (

conclusionWe report a novel pathogenic Alu insertion in the

Indexed as

Multiple Endocrine Neoplasia Type 1Mutagenesis, InsertionalAlu ElementsDNA Copy Number VariationsFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleMultiplex Polymerase Chain ReactionPedigreeSequence DeletionWhole Genome SequencingEndocrine Gland NeoplasmsGerm-Line MutationHigh-Throughput Nucleotide SequencingLoss of Function MutationMutagenesis, Insertional

Identifiers

PMID42055800
PMCPMC13479647

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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.