Evidence map›Paper›PMID 33525650›Full record

ArticleInternational journal of molecular sciences2021

Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer.

Cristina Herrera-Pariente, Roser Capó-García, Marcos Díaz-Gay, Sabela Carballal, Jenifer Muñoz, Joan Llach, Ariadna Sánchez, Laia Bonjoch, Coral Arnau-Collell, Yasmin Soares de Lima and 8 more

Registry-linked trialOpen access · goldAbstract readComparative Study
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05551416 (Research and Development of New Strategies for the Early Detection and Prevention of Gastric Cancer in the Spanish Population), which is not on this map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.1field-weighted citation impact, top 13% 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.

NCT05551416 recruitingnot on this map

Research and Development of New Strategies for the Early Detection and Prevention of Gastric Cancer in the Spanish Population: EpiGASTRIC/EDGAR Project.

Typeobservational_patient_registrySponsorEDUARDO ALBENIZRan2021 to 2026Enrolled1,200ConditionsGastric Neoplasms, Gastric Cancer, Gastric LesionArmsIdentification of risk factors, Characterization of premalignant gastric lesions, Identification of biomarkers, Identification of gastric cancer hereditary predisposition
3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 17 citations in OpenAlex.

  1. Germline whole-exome sequencing identifies CTNND1 as a candidate gene for hereditary gastric cancer in a large Brazilian cohort.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2026
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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

18 authors at 4 institutions in 3 countries.

Cristina Herrera-ParienteCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0002-9748-1212
Roser Capó-GarcíaCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0001-5511-2454
Marcos Díaz-GayCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0003-0658-0467
Sabela CarballalCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
Jenifer MuñozCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
Joan LlachCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
Ariadna SánchezCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0003-0409-1328
Laia BonjochCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0002-3351-0037
Coral Arnau-CollellCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
Yasmin Soares de LimaCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
Mariano GolubickiOncology Section, Hospital of Gastroenterology "Dr. C. B. Udaondo", C1264 Buenos Aires, Argentina.ORCID 0000-0002-3773-8581
Gerhard JungCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0003-3675-312X
Juan José LozanoBioinformatics Platform, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, 08036 Barcelona, Spain.
Antoni CastellsCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
Francesc BalaguerCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0002-0206-0539
Luis BujandaCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Biodonostia Health Research Institute, Basque Country University (UPV/EHU), 20014 San Sebastián, Spain.
Sergi Castellví-BelCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0003-1217-5097
Leticia MoreiraCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.ORCID 0000-0002-4518-8591
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas · ESBiogipuzkoa Health Research Institute · ESHospital Italiano de Buenos Aires · ARUniversity of California San Diego · US

Funding

Agència de Gestió d'Ajuts Universitaris i de Recerca -AGAUR- 2019FI_B2_00203Catalan Health Department, Generalitat de Catalunya,Departament de Salut (PERIS 2019-2021) SLT/3104/2018Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas 18PI03CERCA Program (Generalitat de Catalunya) and Agència de Gestió d'Ajuts Universitaris i de Recerca GRPRE 2017SGR21, GRC 2017SGR653Fondo de Investigación Sanitaria/FEDER 17/00878, 20/00113Fundación Bancaria Caixa d'Estalvis i Pensions de Barcelona ID 100010434Juan de la Cierva postdoctoral contract FJCI-2017-32593
6 · The paper itself

Abstract

The genetic cause for several families with gastric cancer (GC) aggregation is unclear, with marked relevance in early-onset patients. We aimed to identify new candidate genes involved in GC germline predisposition. Whole-exome sequencing (WES) of germline samples was performed in 20 early-onset GC patients without previous germline mutation identified. WES was also performed in nine tumor samples to analyze the somatic profile using SigProfilerExtractor tool. Sequencing germline data were filtered to select those variants with plausible pathogenicity, rare frequency and previously involved in cancer. Then, a manual filtering was performed to prioritize genes according to current knowledge and function. These genetic variants were prevalidated with Integrative Genomics Viewer 2.8.2 (IGV). Subsequently, a further selection step was carried out according to function and information obtained from tumor samples. After IGV and selection step, 58 genetic variants in 52 different candidate genes were validated by Sanger sequencing. Among them,

Indexed as

Germ-Line MutationAdenomatous Polyposis Coli ProteinAdultAgedAge of OnsetCadherinsCateninsDelta CateninEarly Detection of CancerExome SequencingFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleAdenomatous Polyposis Coli ProteinAPC protein, humanCadherinsCateninsDelta CateninFAT4 protein, humanTLR2 protein, humanToll-Like Receptor 2Tumor Suppressor Proteinsearly-onsetgastric cancergermline predispositionnext-generation sequencingsomatic profilingwhole-exome sequencing

Identifiers

PMID33525650
PMCPMC7866206
OpenAlexW3125900156

What Socratic holds

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LicenceCC BY
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Registered trials

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 Socratic graph.