{"doi":"10.1002/ijc.33753","title":"Early detection of duodenal cancer by upper <scp>gastrointestinal</scp>‐endoscopy in Lynch syndrome","abstract":"<jats:title>Abstract</jats:title><jats:p>Small bowel cancer (SBC) is the malignancy with the highest standardized incidence ratio in Lynch syndrome (LS) patients. Of all SBCs, about 50% are duodenal cancers (DCs), therefore being accessible by esophago‐gastro‐duodenoscopy (EGD) for surveillance. We asked whether early detection of DC is possible for LS patients undergoing surveillance by EGD and if surveillance should be limited to specific subgroups. Data for LS patients with DC were retrieved from the registry of the German Consortium for Familial Intestinal Cancer. Patients undergoing active surveillance by EGDs (surveillance group) were compared to those who did not (nonsurveillance group) regarding tumor stage at diagnosis. Union for International Cancer Control stages I‐IIA were defined as early stage disease and IIB‐IV as advanced stage disease. Statistical analysis was performed using Fisher's exact test. Among 2015 patients with pathogenic variants in any mismatch‐repair‐gene, 47 patients with 49 DCs were identified. In 10% of cases, patients were under 35 years at diagnosis; family and personal tumor history did not correlate with DC diagnosis. Pathogenic germline variants in <jats:italic>MSH6</jats:italic>, <jats:italic>PMS2</jats:italic> or <jats:italic>EPCAM</jats:italic> were present in 10% of patients. Statistical analysis could be performed on 13 DC patients in the surveillance group and 14 in the nonsurveillance group. Early detection was possible for 71% of patients in the surveillance group and 29% of patients in the nonsurveillance group (<jats:italic>P</jats:italic> = .021). Early detection of DC by EGD in LS patients is feasible regardless of family history, mutational status and should start no later than 25 years of age.</jats:p>","journal":"International Journal of Cancer","year":2021,"id":649331,"datarank":0.32958368660043297,"base_score":2.1972245773362196,"endowment":2.1972245773362196,"self_citation_contribution":0.32958368660043297,"citation_network_contribution":0.0,"self_endowment_contribution":0.32958368660043297,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":8,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1692653,"name":"Swetlana Ladigan‐Badura","orcid":null,"position":1,"is_corresponding":false},{"id":249338,"name":"Christoph Engel","orcid":"0000-0002-7247-282X","position":2,"is_corresponding":false},{"id":461576,"name":"Robert Hüneburg","orcid":"0000-0001-9957-8299","position":3,"is_corresponding":false},{"id":461557,"name":"Claudia Perne","orcid":"0000-0001-6131-2065","position":4,"is_corresponding":false},{"id":632617,"name":"Karolin Bucksch","orcid":"0000-0003-4586-4032","position":5,"is_corresponding":false},{"id":28433,"name":"Jacob Nattermann","orcid":"0000-0001-5972-0780","position":6,"is_corresponding":false},{"id":461559,"name":"Verena Steinke‐Lange","orcid":"0000-0001-8491-3234","position":7,"is_corresponding":false},{"id":462599,"name":"Nils Rahner","orcid":null,"position":8,"is_corresponding":false},{"id":84701,"name":"Jürgen Weitz","orcid":"0000-0002-5760-6391","position":9,"is_corresponding":false},{"id":392596,"name":"Matthias Kloor","orcid":"0000-0002-4125-992X","position":10,"is_corresponding":false},{"id":1692662,"name":"Judith Tomann","orcid":null,"position":11,"is_corresponding":false},{"id":262978,"name":"Ali Canbay","orcid":"0000-0001-6069-7899","position":12,"is_corresponding":false},{"id":1692664,"name":"Huu‐Phuc Nguyen","orcid":null,"position":13,"is_corresponding":false},{"id":1037926,"name":"Christian P. 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Of all SBCs, about 50% are duodenal cancers (DCs), therefore being accessible by esophago‐gastro‐duodenoscopy (EGD) for surveillance. We asked whether early detection of DC is possible for LS patients undergoing surveillance by EGD and if surveillance should be limited to specific subgroups. Data for LS patients with DC were retrieved from the registry of the German Consortium for Familial Intestinal Cancer. Patients undergoing active surveillance by EGDs (surveillance group) were compared to those who did not (nonsurveillance group) regarding tumor stage at diagnosis. Union for International Cancer Control stages I‐IIA were defined as early stage disease and IIB‐IV as advanced stage disease. Statistical analysis was performed using Fisher's exact test. Among 2015 patients with pathogenic variants in any mismatch‐repair‐gene, 47 patients with 49 DCs were identified. In 10% of cases, patients were under 35 years at diagnosis; family and personal tumor history did not correlate with DC diagnosis. Pathogenic germline variants in <jats:italic>MSH6</jats:italic>, <jats:italic>PMS2</jats:italic> or <jats:italic>EPCAM</jats:italic> were present in 10% of patients. Statistical analysis could be performed on 13 DC patients in the surveillance group and 14 in the nonsurveillance group. Early detection was possible for 71% of patients in the surveillance group and 29% of patients in the nonsurveillance group (<jats:italic>P</jats:italic> = .021). Early detection of DC by EGD in LS patients is feasible regardless of family history, mutational status and should start no later than 25 years of age.</jats:p>","is_dataset_classified":null,"base_score":2.1972245773362196,"endowment":2.1972245773362196,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"34331771","pmcid":null,"openalex_id":"https://openalex.org/W3190883971","authors":[],"funders":[{"funder_name":"Deutsche Krebshilfe","grant_id":"111008","title":null}],"total_grants":1,"fwci":0.8534,"citation_percentile":0.7119464,"influential_citations":0,"citation_trend":[{"year":2022,"count":3},{"year":2024,"count":3},{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"hybrid","license":"cc-by-nc-nd","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.33753","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.33753","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/ijc.33753","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ijc.33753","host_type":"publisher"},{"url":"https://doi.org/10.1002/ijc.33753","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/34331771","host_type":"repository"}],"fields_of_study":["Genetic factors in colorectal cancer","Colorectal Cancer Screening and Detection","Multiple and Secondary Primary Cancers","Adult","Aged","Aged, 80 and over","Biomarkers, Tumor","Colorectal Neoplasms, Hereditary Nonpolyposis","DNA Mismatch Repair","DNA Mutational Analysis","DNA-Binding Proteins","Duodenal Neoplasms","Duodenoscopy","Early Detection of Cancer","Epithelial Cell Adhesion Molecule","Feasibility Studies","Female","Genetic Predisposition to Disease","Humans","Male","Medical History Taking","Middle Aged","Mismatch Repair Endonuclease PMS2","Neoplasm Staging","Practice Guidelines as Topic","Prospective Studies","Registries","Time Factors","Young Adult"],"mesh_terms":["Mismatch Repair Endonuclease PMS2","Epithelial Cell Adhesion Molecule","Adult","Aged","Aged, 80 and over","Colorectal Neoplasms, Hereditary Nonpolyposis","DNA Mutational Analysis","DNA-Binding Proteins","Duodenal Neoplasms","Duodenoscopy","Feasibility Studies","Female","Humans","Male","Medical History Taking","Middle Aged","Neoplasm Staging","Prospective Studies","Registries","Time Factors","Biomarkers, Tumor","Practice Guidelines as Topic","Genetic Predisposition to Disease","DNA Mismatch Repair","Early Detection of Cancer","Young Adult"],"keywords":["Lynch syndrome","Medicine","Gastroenterology","Endoscopy","Internal medicine","Duodenal cancer","Cancer","Colorectal cancer","Surveillance","HNPCC","Small Bowel Cancer"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-10T03:32:46.769278Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}