Evidence map›Paper›PMID 39519042›Full record

ArticleInternational journal of molecular sciences2024

Double Heterozygous Pathogenic Variants in

Michaela Kuhlen, Tina Schaller, Sebastian Dintner, Nicole Stadler, Thomas G Hofmann, Maximilian Schmutz, Rainer Claus, Michael C Frühwald, Monika M Golas

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 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.

Michaela KuhlenPediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.ORCID 0000-0003-4577-0503
Tina SchallerPathology, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.
Sebastian DintnerPathology, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.ORCID 0000-0002-0530-0673
Nicole StadlerPediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.
Thomas G HofmannInstitute of Toxicology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.ORCID 0000-0003-0547-2720
Maximilian SchmutzHematology and Oncology, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.ORCID 0000-0002-7453-7260
Rainer ClausPathology, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.ORCID 0000-0003-2617-8766
Michael C FrühwaldPediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.ORCID 0000-0002-8237-1854
Monika M GolasHuman Genetics, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.ORCID 0000-0003-2477-9277

Funding

Deutsche Forschungsgemeinschaft KU3764/3-1 and HO2438/7-1Medical Faculty, University of Augsburg, Germany Not applicable
6 · The paper itself

Abstract

Undifferentiated embryonal sarcoma of the liver is a rare mesenchymal malignancy that predominantly occurs in children. The relationship between this tumor entity and germline pathogenic variants (PVs) remains undefined. Here, we present the clinical case of a male patient diagnosed with undifferentiated embryonal sarcoma of the liver. Both germline and tumor samples were analyzed using next-generation sequencing. In the tumor tissue, PVs in

Indexed as

Checkpoint Kinase 2Germ-Line MutationLiver NeoplasmsSarcomaTumor Suppressor Protein p53HeterozygoteHumansMaleNeoplasms, Germ Cell and EmbryonalCheckpoint Kinase 2CHEK2 protein, humanTP53 protein, humanTumor Suppressor Protein p53CHEK2double heterozygosityembryonal sarcoma of the liversynthetic lethalityTP53

Identifiers

PMID39519042
PMCPMC11545958

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.