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Cancer Frequencies and Screening in Individuals With Down Syndrome: A Comprehensive Nationwide Cross-Sectional
Tanja Sappok1, Sarah Krieg1, Marie-Luise Rosenbusch2
1Medical School and University Medical Center OWL, Bielefeld University, University Clinic for People with Neurodevelopmental Disorders, Mara Hospital, Bielefeld, Germany.
JCO Global Oncology
|June 24, 2026
Summary
Individuals with Down syndrome (DS) have a unique cancer profile with higher risks for leukemia and testicular cancer but lower risks for solid tumors. Reduced participation in cancer screenings among those with DS warrants further investigation and tailored surveillance strategies.
Area of Science:
- Genetics and Oncology
- Epidemiology
- Public Health
Background:
- Down syndrome (DS), characterized by trisomy 21, is associated with a distinct cancer profile.
- Existing surveillance strategies may not adequately address the specific cancer risks and screening participation patterns in individuals with DS.
Purpose of the Study:
- To examine cancer prevalence and screening participation in individuals with DS compared to a matched control group.
- To inform the development of risk-adapted surveillance protocols for individuals with DS.
Main Methods:
- Retrospective cross-sectional analysis of German nationwide health insurance data.
- Comparison of 46,362 individuals with DS against 463,620 matched controls without intellectual disability.
- Logistic regression analysis to assess cancer occurrence and screening participation.
Main Results:
- Lower overall cancer prevalence in the DS group (2.4%) versus controls (2.8%).
- Significantly elevated odds for hematologic malignancies (leukemia) and testicular cancer in individuals with DS.
- Markedly reduced odds for breast cancer, digestive system tumors, and malignant melanomas in the DS group.
- Lower participation in cancer screening programs among individuals with DS (17.03%) compared to controls (26.17%).
Conclusions:
- DS presents a unique cancer profile with increased risks for leukemia and testicular cancer, and decreased risks for solid tumors, aligning with trisomy 21 biology.
- Reduced screening participation in individuals with DS may contribute to observed cancer prevalence patterns.
- Syndrome-specific surveillance protocols targeting high-risk cancers are crucial for individuals with DS.
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