{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:06:23Z","timestamp":1792803983756,"version":"4.5.0"},"reference-count":39,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,3,9]],"date-time":"2024-03-09T00:00:00Z","timestamp":1709942400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Open Access Publication Fund of Bielefeld University","id":[{"id":"https:\/\/ror.org\/02hpadn98","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft (DFG)","id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background: Individuals with Down syndrome are thought to have a unique tumor profile. Methods: Using the IQVIA Disease Analyzer database, patients aged \u226518 years diagnosed with Down syndrome in German general practices between 2005 and 2021 were compared with patients without Down syndrome for cancer incidence, adjusting for age, sex, average annual visit frequency, and comorbidity. The 5-year cumulative incidence of cancer overall and specific cancers was analyzed using Kaplan\u2013Meier curves and compared using the log-rank test. In addition, univariable Cox regression analysis was performed. Results: A total of 2438 patients with Down syndrome and 12,190 patients without Down syndrome were included; 3.9% of patients without Down syndrome and 3.1% of patients with Down syndrome were diagnosed with cancer (p = 0.143). Regression analysis showed no significant association between Down syndrome and subsequent cancer in the total population (HR: 0.79; 95% CI: 0.57\u20131.09), in women (HR: 0.89; 95% CI: 0.56\u20131.37), or in men (HR: 0.69; 95% CI: 0.43\u20131.11). Analyses by cancer type and sex showed a strong but not significant negative association between Down syndrome and breast cancer in women (HR: 0.33; 95% CI: 0.12\u20130.93). Conclusions: Our results could form the basis for future studies to clarify whether and to what extent an adapted screening program needs to be modified for individuals with Down syndrome due to the particular cancer distribution pattern.<\/jats:p>","DOI":"10.3390\/cancers16061103","type":"journal-article","created":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T04:51:12Z","timestamp":1710132672000},"page":"1103","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Cancer Risk in Patients with Down Syndrome\u2014A Retrospective Cohort Study from Germany"],"prefix":"10.3390","volume":"16","author":[{"given":"Sarah","family":"Krieg","sequence":"first","affiliation":[{"name":"Department of Inclusive Medicine, University Hospital Ostwestfalen-Lippe, Bielefeld University, 33617 Bielefeld, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Krieg","sequence":"additional","affiliation":[{"name":"Department of General and Visceral Surgery, Thoracic Surgery and Proctology, University Hospital Herford, Medical Campus OWL, Ruhr University Bochum, 32049 Herford, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2799-2287","authenticated-orcid":false,"given":"Sven H.","family":"Loosen","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Duesseldorf, Medical Faculty, Heinrich Heine University Duesseldorf, 40225 Duesseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Roderburg","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Duesseldorf, Medical Faculty, Heinrich Heine University Duesseldorf, 40225 Duesseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2124-7227","authenticated-orcid":false,"given":"Karel","family":"Kostev","sequence":"additional","affiliation":[{"name":"Epidemiology, IQVIA, 60549 Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1002\/ajmg.a.37001","article-title":"Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States","volume":"167","author":"Buckley","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_2","first-page":"459","article-title":"Live births, natural losses, and elective terminations with Down syndrome in Massachusetts","volume":"18","author":"Buckley","year":"2016","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1016\/S0140-6736(03)12987-X","article-title":"Down\u2019s syndrome","volume":"361","author":"Roizen","year":"2003","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0140-6736(99)05264-2","article-title":"Risks of leukaemia and solid tumours in individuals with Down\u2019s syndrome","volume":"355","author":"Hasle","year":"2000","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1093\/jnci\/dji026","article-title":"GATA1, cytidine deaminase, and the high cure rate of Down syndrome children with acute megakaryocytic leukemia","volume":"97","author":"Ge","year":"2005","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"103783","DOI":"10.1016\/j.ejmg.2019.103783","article-title":"Cancer screening in adults with down syndrome, a proposal","volume":"63","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_7","first-page":"1151","article-title":"Low risk of solid tumors in persons with Down syndrome","volume":"18","author":"Hasle","year":"2016","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_8","first-page":"64","article-title":"Survival among people with Down syndrome: A nationwide population-based study in Denmark","volume":"15","author":"Zhu","year":"2013","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1016\/S0140-6736(02)08092-3","article-title":"Mortality associated with Down\u2019s syndrome in the USA from 1983 to 1997: A population-based study","volume":"359","author":"Yang","year":"2002","journal-title":"Lancet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1002\/ijc.21518","article-title":"Cancer incidence of persons with Down syndrome in Finland: A population-based study","volume":"118","author":"Patja","year":"2006","journal-title":"Int. J. Cancer"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1365-2788.2006.00862.x","article-title":"The profile and incidence of cancer in Down syndrome","volume":"51","author":"Sullivan","year":"2007","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"459","DOI":"10.5414\/CP203320","article-title":"Basic characteristics and representativeness of the German Disease Analyzer database","volume":"56","author":"Rathmann","year":"2018","journal-title":"Int. J. Clin. Pharmacol. Ther."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"11369","DOI":"10.1007\/s00432-023-05009-1","article-title":"Are sleep disorders associated with the risk of gastrointestinal cancer?-A case-control study","volume":"149","author":"Loosen","year":"2023","journal-title":"J. Cancer Res. Clin. Oncol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"e12000","DOI":"10.1002\/pul2.12000","article-title":"Pulmonary hypertension is associated with an increased incidence of cancer diagnoses","volume":"12","author":"Roderburg","year":"2022","journal-title":"Pulm. Circ."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1097\/01.mlr.0000182534.19832.83","article-title":"Coding algorithms for defining comorbidities in ICD-9-CM and ICD-10 administrative data","volume":"43","author":"Quan","year":"2005","journal-title":"Med. Care"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.6004\/jnccn.2014.0153","article-title":"Solid malignancies in individuals with Down syndrome: A case presentation and literature review","volume":"12","author":"Bratman","year":"2014","journal-title":"J. Natl. Compr. Cancer Netw."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"e453","DOI":"10.1016\/S2468-2667(23)00057-9","article-title":"Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: A population-based cohort study using electronic health records","volume":"8","author":"Baksh","year":"2023","journal-title":"Lancet Public Health"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1111\/j.1651-2227.1975.tb03842.x","article-title":"Mortality and life-table in Down\u2019s syndrome","volume":"64","author":"Oster","year":"1975","journal-title":"Acta Paediatr. Scand."},{"key":"ref_19","first-page":"20","article-title":"Care of Adults with Intellectual and Developmental Disabilities: Down Syndrome","volume":"439","author":"Wilson","year":"2015","journal-title":"FP Essent."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"715","DOI":"10.14423\/SMJ.0000000000000193","article-title":"Care of the adult patient with Down syndrome","volume":"107","author":"Ross","year":"2014","journal-title":"South. Med. J."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1352\/1934-9556-53.2.91","article-title":"Breast cancer screening for women with Down syndrome: Lessons learned","volume":"53","author":"Chicoine","year":"2015","journal-title":"Intellect. Dev. Disabil."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2374","DOI":"10.1007\/s11606-019-05182-5","article-title":"Benefits and Harms of Mammography Screening for Women with Down Syndrome: A Collaborative Modeling Study","volume":"34","author":"Alagoz","year":"2019","journal-title":"J. Gen. Intern. Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1148\/radiol.10100655","article-title":"Risk of radiation-induced breast cancer from mammographic screening","volume":"258","author":"Yaffe","year":"2011","journal-title":"Radiology"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3322\/caac.21132","article-title":"Cancer risks associated with external radiation from diagnostic imaging procedures","volume":"62","author":"Linet","year":"2012","journal-title":"CA A Cancer J. Clin."},{"key":"ref_25","first-page":"1239","article-title":"Breast cancer in women with trisomy 21","volume":"185","author":"Sasco","year":"2001","journal-title":"Bull. De L\u2019academie Natl. De Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1111\/jir.12336","article-title":"Breast cancer and screening in persons with an intellectual disability living in institutions in France","volume":"61","author":"Bourgarel","year":"2017","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/bjc.2011.286","article-title":"Joint effects of nulliparity and other breast cancer risk factors","volume":"105","author":"Opdahl","year":"2011","journal-title":"Br. J. Cancer"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/j.1365-2788.1992.tb00534.x","article-title":"Prevalence of overweight and obesity in Down\u2019s syndrome and other mentally handicapped adults living in the community","volume":"36","author":"Bell","year":"1992","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/ajmg.a.36272","article-title":"Social conditions for people with Down syndrome: A register-based cohort study in Denmark","volume":"164","author":"Zhu","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.c.31511","article-title":"A tumor profile in Edwards syndrome (trisomy 18)","volume":"172","author":"Nishi","year":"2016","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2088","DOI":"10.1002\/ajmg.a.38294","article-title":"A tumor profile in Patau syndrome (trisomy 13)","volume":"173","author":"Nishi","year":"2017","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3104\/reports.128","article-title":"Cancer incidence in persons with Down syndrome in Israel","volume":"8","author":"Boker","year":"2002","journal-title":"Down Syndr. Res. Pract."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1046\/j.1469-1809.2001.6520167.x","article-title":"Mortality and cancer incidence in persons with Down\u2019s syndrome, their parents and siblings","volume":"65","author":"Hermon","year":"2001","journal-title":"Ann. Hum. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Hafeez, S., Singhera, M., and Huddart, R. (2015). Exploration of the treatment challenges in men with intellectual difficulties and testicular cancer as seen in Down syndrome: Single centre experience. BMC Med., 13.","DOI":"10.1186\/s12916-015-0386-4"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1001\/archinte.163.6.705","article-title":"Mortality and cancer incidence among individuals with Down syndrome","volume":"163","author":"Hill","year":"2003","journal-title":"Arch. Intern. Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1038\/nrc3355","article-title":"Tumorigenesis in Down\u2019s syndrome: Big lessons from a small chromosome","volume":"12","author":"Groet","year":"2012","journal-title":"Nat. Rev. Cancer"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1038\/nature08062","article-title":"Down\u2019s syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1","volume":"459","author":"Baek","year":"2009","journal-title":"Nature"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.ccr.2008.02.018","article-title":"Targeted deletion of the calcineurin inhibitor DSCR1 suppresses tumor growth","volume":"13","author":"Ryeom","year":"2008","journal-title":"Cancer Cell"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1182\/blood-2004-01-0273","article-title":"Down syndrome critical region protein 1 (DSCR1), a novel VEGF target gene that regulates expression of inflammatory markers on activated endothelial cells","volume":"104","author":"Hesser","year":"2004","journal-title":"Blood"}],"container-title":["Cancers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6694\/16\/6\/1103\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:11:13Z","timestamp":1760105473000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6694\/16\/6\/1103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,9]]},"references-count":39,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,3]]}},"alternative-id":["cancers16061103"],"URL":"https:\/\/doi.org\/10.3390\/cancers16061103","relation":{},"ISSN":["2072-6694"],"issn-type":[{"value":"2072-6694","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,9]]}}}