Evidence map›Paper›PMID 40323501›Full record

ArticleFamilial cancer2025

Colonoscopy findings in CDH1 carriers from a multicenter international study.

Arjun Chatterjee, Robert Hüneburg, Qijun Yang, Shannon Morrison, Anna Bettzüge, Tim Marwitz, Stefan Aretz, Isabel Spier, Tim Ripperger, Silke Redler and 16 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Familial cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

26 authors.

Arjun Chatterjee *Department of Internal Medicine, Cleveland Clinic, Cleveland, OH, USA.
Robert Hüneburg *Department of Internal Medicine, University Hospital Bonn, Bonn, Germany.
Qijun YangQuantitative Health Sciences, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.
Shannon MorrisonQuantitative Health Sciences, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.
Anna BettzügeDepartment of Internal Medicine, University Hospital Bonn, Bonn, Germany.
Tim MarwitzDepartment of Internal Medicine, University Hospital Bonn, Bonn, Germany.
Stefan AretzNational Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Isabel SpierNational Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Tim RippergerEuropean Reference Network for Genetic Tumor Risk Syndromes (ERN Genturis), Nijmegen, The Netherlands.
Silke RedlerInstitute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.
Mykyta KachanovEuropean Reference Network for Genetic Tumor Risk Syndromes (ERN Genturis), Nijmegen, The Netherlands.
Alexander E VolkEuropean Reference Network for Genetic Tumor Risk Syndromes (ERN Genturis), Nijmegen, The Netherlands.
Deepak B VangalaGenetics, Department of Cancer Genetics, Ruhr-University Bochum, Bochum, Germany.
Severin DaumMedical Department, Division of Gastroenterology, Infectious Diseases and Rheumatology, Charité University Medicine Berlin, Campus Benjamin Franklin (CBF), Berlin, Germany.
Elke Holinski-FederEuropean Reference Network for Genetic Tumor Risk Syndromes (ERN Genturis), Nijmegen, The Netherlands.
Verena Steinke-LangeEuropean Reference Network for Genetic Tumor Risk Syndromes (ERN Genturis), Nijmegen, The Netherlands.
Kathrin BahlkeInstitute for Human Genetics, University Hospital Münster, Münster, Germany.
Christian P StrassburgDepartment of Internal Medicine, University Hospital Bonn, Bonn, Germany.
Lady Katherine MejiaPerezDepartment of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic, Cleveland, OH, USA.
Margaret M O'MalleyDepartment of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.
Lisa LaGuardiaDepartment of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.
David LiskaDepartment of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.
Carole MacaronDepartment of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic, Cleveland, OH, USA.
Joshua SommovillaDepartment of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.
Carol A Burke *Department of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic, Cleveland, OH, USA. BURKEC1@ccf.org.
Jacob Nattermann *Department of Internal Medicine, University Hospital Bonn, Bonn, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Germline (likely-)pathogenic variants (PV) in CDH1 predispose carriers to hereditary diffuse gastric cancer and lobular breast cancer. Previous studies from the United States suggest CDH1 variant carriers have an increased risk for adenomas or sessile serrated lesions (SSL), yet data linking CDH1 PVs and colorectal neoplasia are scarce. We aimed to investigate colonoscopy findings in CDH1 PVs. Adults carrying a PV/LPV in CDH1 with ≥ 1 colonoscopy between 01/01/2004-12/31/2023 were included. Patients were sourced from the David G. Jagelman Inherited Colorectal Cancer Registries at Cleveland Clinic and the German Consortium for Familial Intestinal Cancer. 103 CDH1 PV carriers were included. Most were female (66%) and white (93.1%). The median age at first colonoscopy was 47 years. The adenoma detection rate (ADR) was 29.4% (95% CI:19.9-41.1%) in the German cohort and 48.6% (95% CI: 33.0-64.4%) in the Cleveland cohort (p = 0.055) and significantly correlated with age (< 45 years, 13.6% (95% CI: 6.40-26.7%); 45-49 years, 52.4% (95% CI: 32.4-71.7%); ≥50 years, 52.6% (95% CI: 37.3-67.5%); p < 0.001). The ADR in Cleveland was higher than the U.S. average ADR but the difference was not statistically significant (48.6% vs. 35.6%, p = 0.08), and the ADR in the German cohort (29.4%) was similar to the national German average risk screening cohort (31.3% in men, p = 0.84; 20.1% in women, p = 0.08). In our screening cohort with CDH1 PV carriers, we demonstrated an ADR of 13.5% in individuals under 45 years, similar to the ADR in patients aged 25-40 years with a family history of CRC. Overall, SSL detection rate was 9.7%. Colorectal cancer was diagnosed in 3 patients (3.2%), 2/3 with an early age of onset before the age of 50 years. This first international study provides preliminary evidence of a higher ADR in U.S. CDH1 PV carriers compared to the general population, with a high number of adenomas detected before the age of 50. This may indicate an increased CRC risk that should be explored in larger studies.

Indexed as

AdenomaAntigens, CDCadherinsColonoscopyColorectal NeoplasmsAdultAgedEarly Detection of CancerFemaleGenetic Predisposition to DiseaseGermanyGerm-Line MutationHeterozygoteHumansMaleMiddle AgedAntigens, CDCadherinsCDH1 protein, humanCDH1CDH1 pathogenic variantsColon cancerColonoscopyColorectal cancer

Identifiers

PMID40323501
PMCPMC12052908

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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.