Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol.
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey...
https://pubmed.ncbi.nlm.nih.gov/28931501Actively Recruiting
Age: 18Years +
All Genders
ID03124212
Cascade Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland
Led by University of Basel · Updated on 2026-05-13
700
Participants Needed
9
Research Sites
N/A
Total Duration
On this page
Sponsors
U
University of Basel
Lead Sponsor
K
Kantonal Spital Solothurn, Olten
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS), which together account for about 30% of new cancer cases in Switzerland. The study focuses on genetic testing for these hereditary cancers to identify mutation carriers and improve prevention through early detection and management. Despite available genetic services, many mutation carriers and their family members do not use these services due to care coordination and communication challenges. The study uses a family-based cohort approach called CASCADE genetic screening, involving mutation carriers, their blood relatives who test negative, and untested relatives. It aims to survey index patients with HBOC or LS and their family members to understand their cancer status, genetic testing use, care coordination needs, communication patterns, and quality of life. The study will also explore the acceptability of a family-based communication and decision support intervention. Participants will be involved in surveys assessing their cancer and genetic mutation status, surveillance practices, psychosocial needs, communication with providers and family, and willingness to engage in genetic services. The primary outcome is establishing the CASCADE cohort within 12 months, with secondary outcomes including cancer surveillance practices. The study is observational and ongoing, with participants living in Switzerland and able to communicate in German, French, Italian, or English.
CONDITIONS
Brief Title
Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
Who Can Participate
Age: 18Years +
All Genders
Eligibility Criteria
You may qualify if you...
- 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 will not qualify if you...
- 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
AI-Screening
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote)
Surveillance
Duration - 12 months
Participants who undergo routine care are observed to establish the CASCADE Cohort and monitor cancer surveillance.
Assessments may occur periodically during the 12 months
Trial Site Locations
Total: 9 locations
1
HFR Fribourg - Hôpital Cantonal
Fribourg, Canton of Fribourg, Switzerland, 1752
Not Yet Recruiting
2
Hirslanden Clinic Des Grangettes
Geneva, Canton of Geneva, Switzerland, 1224
Not Yet Recruiting
3
Hôpital du Jura Service d'Oncologie
Delémont, Canton of Jura, Switzerland, 2800
Actively Recruiting
4
Katonsspital Winterthur Tumorzentrum Brustzentrum
Winterthur, Canton of Zurich, Switzerland, 8401
Not Yet Recruiting
5
University Hospital Basel
Basel, Switzerland, 4056
Actively Recruiting
6
Istituto Oncologico della Zvizzera Italiana
Bellinzona, Switzerland, 6962
Actively Recruiting
7
Gastroenterology clinic
Bern, Switzerland, 2010
Terminated
8
Universitatklinik fur Medizinische Onkologie, Inselspital
Bern, Switzerland, 3010
Actively Recruiting
9
Unite d'Oncogenetique et de Prevention des Cancers
Geneva, Switzerland, 1205
Actively Recruiting
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Research Team
M
Maria C Katapodi, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Published Research Related To This Trial
Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop.
Christos Nikolaidis, Chang Ming, Carla Pedrazzani...
https://pubmed.ncbi.nlm.nih.gov/30695780