Evidence map›Paper›PMID 33051313›Full record

ArticleJournal of medical genetics2021

Blood functional assay for rapid clinical interpretation of germline

Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure, Raphael Lanos, Françoise Charbonnier, Jacqueline Bou, Emilie Bouvignies, Gwendoline Lienard, Stéphanie Vasseur and 7 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 26% of its field
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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023
    Guideline
  2. Article
  3. Review
  4. Article
  5. Article
  6. International journal of molecular sciences · 2024
    Article
  7. Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023
    Review
  8. Common activities and predictive gene signature identified for genetic hypomorphs ofProceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  9. GermlineCancers · 2020
    Review
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

17 authors at 3 institutions in 2 countries.

Sabine Raad *Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Marion Rolain *Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Sophie CoutantNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Céline DerambureNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Raphael LanosNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Françoise CharbonnierNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Jacqueline BouNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Emilie BouvigniesNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Gwendoline LienardNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Stéphanie VasseurNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Michael FarrellCancer Genetics Service, Mater Private Hospital, Dublin, Leinster, Ireland.
Olivier IngsterDepartment of Genetics, University Hospital Centre Angers, Angers, Pays de la Loire, France.
Stéphanie Baert DesurmontNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Edwige KasperNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Gaëlle BougeardNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.
Thierry FrébourgNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France thierry.frebourg@chu-rouen.fr.
Isabelle TournierNormandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.ORCID 0000-0002-5544-048X
Inserm · FRCentre Hospitalier Universitaire d'Angers · FRMater Misericordiae University Hospital · IE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe interpretation of germline

methodsPeripheral blood mononuclear cells were cultured, activated, exposed to doxorubicin and the p53-mediated transcriptional response was quantified using reverse transcription-multiplex ligation probe amplification and RT-QMPSF assays, including 10 p53 targets selected from transcriptome analysis, and two amplicons to measure p53 mRNA levels. We applied this blood functional assay to 77 patients addressed for

resultsIn 51 wild-type

conclusionThis blood p53 assay should therefore be a useful tool for the rapid clinical classification of germline

Indexed as

Germ-Line MutationAdolescentAdultAgedChildChild, PreschoolDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenotypeHumansLeukocytes, MononuclearMaleMiddle AgedNeoplasmsPolymorphism, Single NucleotideTP53 protein, humanTumor Suppressor Protein p53clinical laboratory techniquesgenetic predisposition to diseasegenetic testinggerm-line mutationmethods

Identifiers

PMID33051313
PMCPMC8639931
OpenAlexW3091980447

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.