Evidence map›Paper›PMID 28875981›Full record

ArticleEuropean journal of human genetics : EJHG2017

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Ingrid P Vogelaar, Rachel S van der Post, J Han Jm van Krieken, Liesbeth Spruijt, Wendy Ag van Zelst-Stams, C Marleen Kets, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Cora M Aalfs and 30 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 3 pooled it
4.4field-weighted citation impact, top 5% 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

27 citing papers in PubMed, 3 syntheses or guidelines pooled it, 45 citations in OpenAlex.

  1. Pooled it
  2. A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020
    Pooled it
  3. Guideline
  4. Article
  5. Observational
  6. Article
  7. Article
  8. CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2024
    Article
  9. Article
  10. Review
  11. Article
  12. Review
  13. Article
  14. Article
  15. Genetic Gastric Cancer Risk Syndromes.Current treatment options in gastroenterology · 2020
    Article
  16. Article
  17. Review
  18. Review
  19. Article
  20. 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

40 authors at 18 institutions in 7 countries.

Ingrid P VogelaarDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Rachel S van der PostDepartment of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
J Han Jm van KriekenDepartment of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
Liesbeth SpruijtDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Wendy Ag van Zelst-StamsDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
C Marleen KetsDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Urszula TeodorczykDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Cora M AalfsDepartment of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
Liselotte P van HestDepartment of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Hugo PinheiroExpression Regulation in Cancer Group, Instituto de Investigação e Inovação em Saúde, Porto, Portugal.
Carla OliveiraExpression Regulation in Cancer Group, Instituto de Investigação e Inovação em Saúde, Porto, Portugal.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
James R LupskiHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Joep de LigtDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.ORCID 0000-0002-0348-419X
Lisenka E L M VissersDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Alexander HoischenDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Christian GilissenDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.ORCID 0000-0003-1693-9699
Maartje van de VorstDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Jelle J GoemanDepartment for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands.
Hans K SchackertDepartment of Surgical Research, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Guglielmina N RanzaniDepartment of Biology and Biotechnology, University of Pavia, Pavia, Italy.
Valeria MolinaroDepartment of Biology and Biotechnology, University of Pavia, Pavia, Italy.
Encarna B Gómez GarcíaDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Frederik J HesDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0002-3025-0882
Elke Holinski-FederMedizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, München, Germany.
Maurizio GenuardiInstitute of Genomic Medicine, Catholic University of the Sacred Heart, Rome, Italy.ORCID 0000-0002-7410-8351
Margreet G E M AusemsDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Rolf H SijmonsDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Anja WagnerDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Lizet E van der KolkFamily Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Inga BjørnevollDepartment of Medical Genetics and Pathology, St. Olavs University Hospital, Trondheim, Norway.
Hildegunn Høberg-VettiWestern Norway Familial Cancer Center, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Ad Geurts van KesselDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Roland P KuiperDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Marjolijn J L LigtenbergDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Nicoline HoogerbruggeDepartment of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Radboud University Nijmegen · NLBaylor College of Medicine · USPomeranian Medical University · PLUniversidade do Porto · PTUniversity of Pavia · ITAmsterdam UMC Location University of Amsterdam · NLAmsterdam UMC Location Vrije Universiteit Amsterdam · NLErasmus MC · NLHaukeland University Hospital · NOLeiden University Medical Center · NLLMU Klinikum · DEMaastricht University · NLSt Olav's University Hospital · NOThe Netherlands Cancer Institute · NLUniversità Cattolica del Sacro Cuore · ITUniversity Hospital Carl Gustav Carus · DEUniversity Medical Center Groningen · NLUniversity Medical Center Utrecht · NL

Funding

The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6M
Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0M
NHGRI NIH HHS U54 HG003273NHGRI NIH HHS U54 HG006542NINDS NIH HHS R01 NS058529
6 · The paper itself

Abstract

Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables preventive measures. However, the underlying cause of genetic susceptibility to gastric cancer remains largely unexplained. We performed germline whole-exome sequencing on leukocyte DNA of 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type GC to identify novel GC-predisposing candidate genes. As young age at diagnosis and familial clustering are hallmarks of genetic tumor susceptibility, we selected patients that were diagnosed below the age of 35, patients from families with two cases of GC at or below age 60 and patients from families with three GC cases at or below age 70. All included individuals were tested negative for germline CDH1 mutations before or during the study. Variants that were possibly deleterious according to in silico predictions were filtered using several independent approaches that were based on gene function and gene mutation burden in controls. Despite a rigorous search, no obvious candidate GC predisposition genes were identified. This negative result stresses the importance of future research studies in large, homogeneous cohorts.

Indexed as

ExomeGenetic Predisposition to DiseaseGerm-Line MutationAdultAgedAntigens, CDCadherinsEarly Detection of CancerFemaleGenetic TestingHumansMaleMiddle AgedSequence Analysis, DNAStomach NeoplasmsAntigens, CDCadherinsCDH1 protein, human

Identifiers

PMID28875981
PMCPMC5643972
OpenAlexW2751008603

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Registered trials

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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.