Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
Recruiting now
Conditions studied: Hereditary Breast and Ovarian Cancer, Lynch Syndrome
In brief
Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland and affect more than 12,000 individuals annually. Several hundred of these patients are likely to carry known genetic mutations associated with HBOC or LS. Genetic testing for hereditary susceptibility to cancer can prevent many cancer deaths through early identification and engagement in high-risk management care that involves intensive surveillance, chemoprevention and/or prophylactic surgery. However, current rates of genetic testing indicate that many Swiss mutation carriers and their family members do not use cancer genetic services (counseling and/or testing), either due to lack of coordination of care or due to lack of communication about the mutation among family members. Cascade screening identifies and tests family members of a known mutation carrier. It determines whether asymptomatic family members are carriers of the identified mutation and proposes management options to reduce harmful outcomes. Robust evidence of basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for HBOC and LS. However, translation of this knowledge into public health interventions is lacking. Specific Aims of the CASCADE study are: 1. Survey Index Patients diagnosed with HBOC or LS from clinic-based genetic testing records and determine their cancer status and surveillance practices; needs for coordination of medical care; psychosocial needs; patient-provider and patient-family communication needs; quality of life; willingness to serve as advocates for cancer genetic services for blood relatives. 2. Survey first- and second-degree relatives, and first cousins identified from pedigrees and/or family history records of HBOC and LS Index Patients and determine their cancer and mutation status; cancer surveillance practices; needs for coordination of medical care; barriers and facilitators to using cancer genetic services; psychosocial needs; patient-provider and patient-family communication needs; quality of life; willingness to participate in a study designed to increase use of cancer genetic services. 3. Explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and blood relatives.
Key facts
- Study ID
- NCT03124212
- Run by
- University of Basel
- People needed
- 700
- Starts
- 2017-04-01
- Expected to finish
- 2035-01-31
- Last updated by the study team
- 2026-05-13
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Carrier of a mutation associated with HBOC or LS
- Have at least one living blood relative
- Men and women
- 18 years old and older
- Mentally and physically able to provide informed consent
- Can read and speak German or French or Italian or English
- Currently living in Switzerland.
You may not qualify if…
- Carriers of unclassified variants (VUS) in BRCA1, BRCA2 or MLH1, MSH2, MSH6, PMS2, EPCAM genes
- Not living in Switzerland
- Patients who are critically ill and cannot complete the CASCADE survey
- Participants who are institutionalized (e.g., nursing homes) or incarcerated
Where it is running
- Unite d'Oncogenetique et de Prevention des Cancers — Geneva, Switzerland (enrolling)
- Hôpital du Jura Service d'Oncologie — Delémont, Canton of Jura, Switzerland (enrolling)
- University Hospital Basel — Basel, Switzerland (enrolling)
- Istituto Oncologico della Zvizzera Italiana — Bellinzona, Switzerland (enrolling)
- Universitatklinik fur Medizinische Onkologie, Inselspital — Bern, Switzerland (enrolling)
- Hirslanden Clinic Des Grangettes — Geneva, Canton of Geneva, Switzerland
- HFR Fribourg - Hôpital Cantonal — Fribourg, Canton of Fribourg, Switzerland
- Katonsspital Winterthur Tumorzentrum Brustzentrum — Winterthur, Canton of Zurich, Switzerland
- Gastroenterology clinic — Bern, Switzerland
Full record on ClinicalTrials.gov
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