Evidence map›Paper›PMID 38892462›Full record

ArticleInternational journal of molecular sciences2024

Vuthy Ea, Claudine Berthozat, Hélène Dreyfus, Clémentine Legrand, Estelle Rousselet, Magalie Peysselon, Laura Baudet, Guillaume Martinez, Charles Coutton, Marie Bidart

Abstract readCase Reports
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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

10 authors.

Vuthy EaUM Génétique Moléculaire: Maladies Héréditaires et Oncologie, University Hospital Grenoble Alpes, 38000 Grenoble, France.ORCID 0000-0002-7425-2695
Claudine BerthozatDepartment of Medical Oncology, Cancer and Blood Diseases, Grenoble Alpes University Hospital, 38000 Grenoble, France.
Hélène DreyfusGenetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.
Clémentine LegrandGenetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.
Estelle RousseletGenetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.
Magalie PeysselonGenetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.
Laura BaudetGenetic Service, Department of Genetics and Procreation, University Hospital Grenoble Alpes, 38000 Grenoble, France.
Guillaume MartinezINSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble Alpes University, 38000 Grenoble, France.ORCID 0000-0002-7572-9096
Charles CouttonINSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble Alpes University, 38000 Grenoble, France.ORCID 0000-0002-8873-8098
Marie BidartUM Génétique Moléculaire: Maladies Héréditaires et Oncologie, University Hospital Grenoble Alpes, 38000 Grenoble, France.ORCID 0000-0003-4092-1253

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

For patients with hereditary breast and ovarian cancer, the probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing genes is rare. Using targeted next-generation sequencing (NGS), we investigated a 49-year-old Caucasian woman who developed a highly aggressive breast tumor. Our analyses identified an intragenic germline heterozygous duplication in

Indexed as

BRCA1 ProteinTriple Negative Breast NeoplasmsTumor Suppressor Protein p53FemaleGene DuplicationGenetic Predisposition to DiseaseGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansMiddle AgedBRCA1 ProteinBRCA1 protein, humanTP53 protein, humanTumor Suppressor Protein p53double heterozygotesexon duplicationgenetic counselinghereditary breast and ovarian cancer syndrome (HBOC)multi-gene panel testing

Identifiers

PMID38892462
PMCPMC11173113

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.