Evidence map›Paper›PMID 41454052›Full record

ArticleEuropean journal of human genetics : EJHG2026

Exome sequencing points to pathogenic ATM variants in gastric cancer.

Laura L Koebbe, Timo Hess, Stephan L Haas, Ines Gockel, Guillaume Piessen, Anna Latiano, Carina Pereira, Ewa Malecka-Wojciesko, Anna Mokrowiecka, Stefania Boccia and 33 more

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2026. 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. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

43 authors.

Laura L Koebbe *Center for Human Genetics, Philipps-Universität Marburg, Marburg, Germany.ORCID http://orcid.org/0000-0001-9962-0741
Timo Hess *Center for Human Genetics, Philipps-Universität Marburg, Marburg, Germany.
Stephan L HaasDepartment of Upper GI Diseases, Karolinska University Hospital and Unit of Gastroenterology and Rheumatology, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-4329-8751
Ines GockelDepartment of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital Leipzig, Leipzig, Germany.ORCID http://orcid.org/0000-0001-7423-713X
Guillaume PiessenUniversity Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, Lille, France.ORCID http://orcid.org/0000-0001-8243-8310
Anna LatianoGastroenterology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Carina PereiraPrecancerous Lesions and Early Cancer Management Group (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center - Raquel Seruca (Porto.CCC) & CI-IPOP@RISE (Health Research Network), Porto, Portugal.
Ewa Malecka-WojcieskoDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Anna MokrowieckaDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Stefania BocciaDepartment of Woman and Child Health and Public Health - Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.
Marek Majewski2nd Department of General Surgery, Medical University of Lublin, Lublin, Poland.
Hakan AlakusDepartment of General, Visceral, Cancer and Transplant Surgery, University of Cologne, Cologne, Germany.
Ángel LanasCentro de Investigación Biomédica en Red en Enfermedades Digestivas y Hepáticas (CIBERehd), Madrid, Spain.
Roberta PastorinoDepartment of Woman and Child Health and Public Health - Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.
Thorsten Oliver GoetzeKrankenhaus Nordwest, University Cancer Center, Frankfurt, Germany.
Peter ElbeDepartment of Upper GI Diseases, Karolinska University Hospital and Unit of Gastroenterology and Rheumatology, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0001-6336-0941
Nicole KreuserDepartment of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital Leipzig, Leipzig, Germany.
Orazio PalmieriGastroenterology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Francesca TavanoGastroenterology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Christiane Josephine BrunsDepartment of General, Visceral, Cancer and Transplant Surgery, University of Cologne, Cologne, Germany.
Olivier GlehenDepartment of Digestive Surgery, Hôpital Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France.
Xavier B D'JournoDepartment of Thoracic Surgery, Aix-Marseille University, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
Caroline GronnierDepartment of Digestive Surgery, Haut-Lévêque Hospital, Bordeaux, France.
Jean M FabreDepartment of Digestive Surgery, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Laurent SulpiceDepartment of Digestive, Hepatobiliary Surgery and Liver Transplantation, Pontchaillou Hospital, CHU Rennes, Rennes, France.
Luis BujandaCentro de Investigación Biomédica en Red en Enfermedades Digestivas y Hepáticas (CIBERehd), Madrid, Spain.ORCID http://orcid.org/0000-0002-4353-9968
Leticia MoreiraCentro de Investigación Biomédica en Red en Enfermedades Digestivas y Hepáticas (CIBERehd), Madrid, Spain.ORCID http://orcid.org/0000-0002-4518-8591
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0003-1057-465X
Maximilian BillmannInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Markus M NoethenInstitute of Human Genetics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-8770-2464
Renato CannizzaroUnit of Oncological Gastroenterology, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, Italia.ORCID http://orcid.org/0000-0002-2020-222X
Michele GhidiniMedical Oncology Unit, ASST of Cremona, Cremona, Italy.
Lutz HamannInstitute of Microbiology, Infectious Diseases and Immunology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Nuria AragonesConsortium for Biomedical Research in Epidemiology & Public Health (CIBER en Epidemiología y Salud Pública e CIBERESP), Madrid, Spain.
Mário Dinis-RibeiroPrecancerous Lesions and Early Cancer Management Group (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center - Raquel Seruca (Porto.CCC) & CI-IPOP@RISE (Health Research Network), Porto, Portugal.
Rui MedeirosMolecular Oncology and Viral Pathology Group (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center - Raquel Seruca (Porto.CCC) & CI-IPOP@RISE (Health Research Network), Porto, Portugal.ORCID http://orcid.org/0000-0003-3010-8373
Salah-Eddin Al-BatranKrankenhaus Nordwest, University Cancer Center, Frankfurt, Germany.
Mārcis LejaRiga East University Hospital, Riga, Latvia.ORCID http://orcid.org/0000-0002-0319-8855
Juozas KupcinskasGastroenterology Department and Institute for Digestive Research, Lithuanian University of Health Sciences, Kaunas, Lithuania.
María A García-GonzálezCentro de Investigación Biomédica en Red en Enfermedades Digestivas y Hepáticas (CIBERehd), Madrid, Spain.ORCID http://orcid.org/0000-0002-8906-2683
Carlo MajCenter for Human Genetics, Philipps-Universität Marburg, Marburg, Germany.
Marino VeneritoDepartment of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke University Hospital, Magdeburg, Germany.
Johannes SchumacherCenter for Human Genetics, Philipps-Universität Marburg, Marburg, Germany. johannes.schumacher@uni-marburg.de.ORCID http://orcid.org/0000-0001-9217-6457

Funding

Deutsche Forschungsgemeinschaft (German Research Foundation) 423957469Deutsche Forschungsgemeinschaft (German Research Foundation) 433208222Deutsche Forschungsgemeinschaft (German Research Foundation) 458949627
6 · The paper itself

Abstract

Gastric cancer (GC) is a leading cause of cancer-related deaths worldwide. While most cases result from the cumulative risk of common genetic variants, a smaller proportion shows a monogenic etiology. We used germline exome sequencing data to assess the gene-based burden of loss-of-function pathogenic variants (LoF-PVs) in 471 early-onset GC cases as well as 666 GC cases from the UK Biobank (UKB), aiming to identify monogenic GC forms. In both datasets, LoF-PVs in CDH1 and ATM were enriched among GC cases. Beyond GC, ATM LoF-PVs were also enriched in UKB participants with pancreatic, oesophageal, breast, prostate, and lung cancer, though the effect size was notably high in GC. As an established disease gene for pancreatic, breast, ovarian, and prostate cancer, ATM should also be considered for genetic testing when monogenic GC is suspected. This is especially important for families in which other tumours associated with ATM PVs occur alongside GC.

Indexed as

Ataxia Telangiectasia Mutated ProteinsLoss of Function MutationStomach NeoplasmsAntigens, CDCadherinsExome SequencingFemaleHumansMaleMiddle AgedAntigens, CDAtaxia Telangiectasia Mutated ProteinsATM protein, humanCadherinsCDH1 protein, human

Identifiers

PMID41454052
PMCPMC13550501

What Socratic holds

Textmetadata
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 Socratic graph.