Swiss CASCADE - Cancer Genetic Predisposition Cascade Screening
Genetic predisposition for certain forms of adult-onset cancer is inherited through germline pathogenic variants. Hereditary Breast and Ovarian Cancer (HBOC) and Lynch Syndrome (LS) are the most known syndromes today. Both syndromes predispose to a high probability of developing cancer at a young age, before screening recommendations apply. HBOC and LS account for up to 25% of common cancers, such as breast, colorectal, and prostate, and for numerous other less common but very lethal types of cancer, such as ovarian, pancreatic, endometrial, gastric, small bowel, urinary, and male breast cancer. In Switzerland, there are about 40,000 new cancer cases diagnosed every year, with breast, prostate, and colorectal cancer accounting for about half of them.
Key data
as of March 2026
Study centers
13
Data
1332 surveys sumbitted in total, thereof
- 641 at baseline
- 424 at first follow-up
- 267 at second follow-up
DKF support
Statistics, Regulatory Affairs, Data Management, Data Centre, Monitoring, IT Operations
The CASCADE cohort surveys individuals with pathogenic variants in genes associated with HBOC or LS and their biological relatives (first-, second-, and third-degree). Data are collected approximately every 24 months regarding cancer status and surveillance/screening practices, coordination of medical care and access to healthcare services, including cancer genetic services, psycho-oncology and psychosocial needs, comorbidities and quality of life.
The long term goals of the study are to help downstage cancer due to pathogenic variants, that is to identify as many carriers as possible while they are still unaffected by the disease, and to help provide optimal care, including cancer prevention measures, to individuals from these families. This will help reduce costs to the Swiss healthcare system and to Swiss society by reducing the number of young patients with cancer and years of lost productivity.
Integrated research projects
- DIALOGUE study: Digital platform to facilitate family communication about pathogenic BRCA variants and cascade genetic screening of relatives (SNSF IZKSZ3_188408/1)
- COACH study: Narrative data on family communication and the role of healthcare providers
- K-CASCADE: Since 2020 conducted in South Korea with focus on HBOC (n=1201 (thereof n=691 at baseline, n=339 at first follow-up and n=171 at second follow-up)
- i-Cascade: Since 2020 conducted in Israel with focus on HBOC and LS (n=428, baseline only)
Third-party funds acquired
- Swiss Cancer Research Foundation KFS-5293-02-2021 (PI, Katapodi MC)
- Swiss Cancer League-KLS-4294-08-2017 (PI, Katapodi MC)
- Swiss National Science Foundation - IZKSZ3_188408/1 (PI, Katapodi MC)
- University of Basel, Office of the Vice Rector of Research (2016)
Selected publications
Sarki M, Fink G, Aissaoui S, Brugnoletti F, Bürki N, Graffeo R, Monnerat C, Rabaglio M, Zürrer-Härdi U, Chappuis PO, et al. Health Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome. Journal of Personalized Medicine. 2026; 16(1):6. doi:10.3390/jpm16010006. »Open Access
Caiata-Zufferey M, Schweighoffer R, Aceti M, Pedrazzani C, Katapodi MC, Aissaoui S, Alemu M, Aykut M, Brugnoletti F, Bunger R, Bürki N. Navigating complex choices through legitimation: Narrative strategies in risk-reduction mastectomy decision-making among unaffected women with genetic risk for breast cancer in Switzerland. SSM-Qualitative Research in Health. 2025 Jun 1;7:100522. doi: 10.1016/j.ssmqr.2024.100522. » Open Access
Aceti M, Caiata-Zufferey M, Pedrazzani C, Schweighoffer R, Kim SY, Baroutsou V, Katapodi MC, Kim S. “Modes of responsibility in disclosing cancer genetic test results to relatives: an analysis of Swiss and Korean narrative data”. Patient Education and Counseling, 2024; 123:108202. doi: 10.1016/j.pec.2024.108202 » Open Access
Baroutsou V, Duong V, Signorini A, Saccilotto R, Ciorba FM, Bürki N, Caiata-Zufferey M., Ryu JM, Kim SW, Lim MC, Monnerat C, Zürrer-Härdi U, Kim J, Heinimann K, Graffeo R, Park JS, Rabaglio M, Chappuis PO, Kim S, Katapodi MC, the CASCADE and K-CASCADE Consortia. Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing. Cancers, 2023, Sept;15(18), 4485; doi.org/10.3390/cancers15184485 » Open Access
Baroutsou V, Pena CG, Schweighoffer R, Caiata-Zufferey M, Kim S, Hesse-Biber S, Ciorba F, Lauer G, Katapodi MC and the CASCADE Consortium. Predicting Openness of Communication in Families with Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis. Journal of Medical Internet Research – Formative Research; 2023, July; e38399. doi: 10.2196/38399 » Open Access