Evidence map›Paper›PMID 38473962›Full record

ArticleInternational journal of molecular sciences2024

A Novel DNA Variant in

Federica Di Maggio, Giuseppe Boccia, Marcella Nunziato, Marcello Filotico, Vincenzo Montesarchio, Maria D'Armiento, Francesco Corcione, Francesco Salvatore

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

8 authors.

Federica Di MaggioCEINGE-Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.ORCID 0009-0008-5917-1492
Giuseppe BocciaDepartment of Public Health, University of Naples "Federico II", 80131 Naples, Italy.ORCID 0000-0002-1736-5028
Marcella NunziatoCEINGE-Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.ORCID 0000-0003-1999-4992
Marcello FiloticoDepartment of Public Health, University of Naples "Federico II", 80131 Naples, Italy.ORCID 0000-0002-2668-6704
Vincenzo MontesarchioDivision of Medical Oncology, AORN dei Colli-Monaldi Hospital, 80131 Naples, Italy.
Maria D'ArmientoPathology Unit, Department of Public Health, University of Naples "Federico II", 80131 Naples, Italy.
Francesco CorcioneDepartment of Public Health, University of Naples "Federico II", 80131 Naples, Italy.
Francesco SalvatoreCEINGE-Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.ORCID 0000-0002-2346-3564

Funding

Ministero della Salute RF-2010-23183729Regione Campania 359 del 20/12/2022Regione Campania 38/2020Regione Campania 48 of 04/03/2021Regione Campania 752/2019Regione Campania 9 del 12/01/2023Regione Campania CIRORegione Campania SATIN
6 · The paper itself

Abstract

Colorectal cancer is the third leading cause of death from neoplasia worldwide. Thanks to new screening programs, we are now seeing an increase in Early Onset of ColoRectal Cancer (EOCRC) in patients below the age of 50. Herein, we report a clinical case of a woman affected by EOCRC. This case illustrates the importance of genetic predisposition testing also in tumor patients. Indeed, for our patient, we used a combined approach of multiple molecular and cellular biology technologies that revealed the presence of an interesting novel variant in the

Indexed as

Colonic NeoplasmsColorectal NeoplasmsDNADNA HelicasesFemaleGenetic Predisposition to DiseaseGenetic TestingHumansMiddle AgedNuclear ProteinsTranscription FactorsDNADNA HelicasesNuclear ProteinsSMARCA4 protein, humanTranscription Factorscolon cancerearly cases of EOCRCmulti-gene oncology panelNGSSMARCA4 pathogenic mutation

Identifiers

PMID38473962
PMCPMC10932324

What OpenQuestion holds

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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.