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 November 2023
Study centers
11
Data
- 713 people included
- 565 surveys completed
DKF support
Statistics, Regulatory Affairs, Data Management, Data Centre, Monitoring
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: Conducted in South Korea (n=421, with focus on HBOC, since 2020)
- i-Cascade: Being implemented in Israel (n=144, focusing on HBOC and LS, since 2022)
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 Open Access Publications
- Salikhanov I, Heinimann K, Chappuis PO, BürkiN, Graffeo-Galbiati R, Heinzelmann-Schwarz V, Rabaglio M, Taborelli M, Wieser S, Katapodi MC (2021). "A Swiss cost-effectiveness analysis of screening of colorectal cancer patients for Lynch Syndrome followed by cascade genetic testing of relatives."Journal of Medical Genetics; 1;0:1-7. doi:10.1136/jmedgenet-2021-108062 >
- Sarki M, Ming C, Aissaoui S, Bürki N, Caiata-Zufferey M, Erlanger TE, Monnerat C, Graffeo-Galbiati R, Heinimann K, Heinzelmann-Schwarz V, Probst-Hensch N, Rabaglio M, Zürrer-Härdi U, Chappuis PO, Katapodi MC. (2022). "Intention to inform relatives, rates of cascade testing, and preference for patient-mediated communication in families concerned with hereditary breast and ovarian cancer and Lynch syndrome: The Swiss CASCADE cohort" Cancers; 14(7), 1636; doi.org/10.3390/cancers14071636 >
- Pedrazzani C, Aceti M, Schweighoffer R, Kaiser-Grolimund A, Bürki N, Chappuis PO, Graffeo R, Monnerat C, Pagani O, Rabaglio M, Katapodi MC, Caiata-Zufferey M. (2022). "The communication chain of genetic risk: Analyses of narrative data exploring proband-provider and proband-family communication in hereditary breast and ovarian cancer".Journal of Personalized Medicine; 12(8), 1249. doi.org/10.3390/jpm12081249>
- Sarki M, Ming C, Aceti M, Fink G, Aissaoui S, Bürki N, Graffeo-Galbiati R, Heinimann K, Heinzelmann-Schwarz V, Monnerat C, Rabaglio M, Zürrer-Härdi U, Chappuis PO, Katapodi MC and the CASCADE Consortium (2022). "Relatives from hereditary breast and ovarian cancer and Lynch syndrome families forgoing genetic testing: Findings from the Swiss CASCADE cohort"Journal of Personalized Medicine; 12(10), 1740; https://doi.org/10.3390/jpm12101740>
- Baroutsou V, Pena CG, Schweighoffer R, Caiata-Zufferey M, Kim S, Hesse-Biber S, Ciorba F, Lauer G, Katapodi MC and the CASCADE Consortium. (2023). "Predicting Openness of Communication in Families with Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis."Journal of Medical Internet Research - Formative Research; 19;7:e38399. doi: 10.2196/38399 >
- Barnoy S, Dagan E, Kim S, Caiata-Zufferey M, Katapodi MC, the CASCADE and the K-CASCADE Consortia. (2023). "Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: The International Cascade Genetic Screening experience."Frontiers in Genetics; 14:1109431. doi: 10.3389/fgene.2023.1109431. >