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Recruiting NCT03124212

NCT03124212 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland

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Clinical Trial Summary
NCT ID NCT03124212
Status Recruiting
Phase
Sponsor University of Basel
Condition Hereditary Breast and Ovarian Cancer
Study Type OBSERVATIONAL
Enrollment 700 participants
Start Date 2017-04-01
Primary Completion 2035-01-31

Eligibility & Interventions

Sex All sexes
Min Age 18 Years
Max Age N/A
Study Type OBSERVATIONAL
Interventions
CASCADE genetic screening

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 700 participants in total. It began in 2017-04-01 with a primary completion date of 2035-01-31.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief Summary

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.

Eligibility Criteria

Inclusion Criteria: 1. Carrier of a mutation associated with HBOC or LS 2. Have at least one living blood relative 3. Men and women 4. 18 years old and older 5. Mentally and physically able to provide informed consent 6. Can read and speak German or French or Italian or English 7. Currently living in Switzerland. Exclusion Criteria: 1. Carriers of unclassified variants (VUS) in BRCA1, BRCA2 or MLH1, MSH2, MSH6, PMS2, EPCAM genes 2. Not living in Switzerland 3. Patients who are critically ill and cannot complete the CASCADE survey 4. Participants who are institutionalized (e.g., nursing homes) or incarcerated

Contact & Investigator

Central Contact

Maria C Katapodi, PhD

✉ maria.katapodi@unibas.ch

📞 ++41791095163

Principal Investigator

Maria C Katapodi, PhD

PRINCIPAL INVESTIGATOR

University of Basel

Frequently Asked Questions

Who can join the NCT03124212 clinical trial?

This trial is open to participants of all sexes, aged 18 Years or older, studying Hereditary Breast and Ovarian Cancer. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT03124212 currently recruiting?

Yes, NCT03124212 is actively recruiting participants. Contact the research team at maria.katapodi@unibas.ch for enrollment information.

Where is the NCT03124212 trial being conducted?

This trial is being conducted at Fribourg, Switzerland, Geneva, Switzerland, Delémont, Switzerland, Winterthur, Switzerland and 5 additional locations.

Who is sponsoring the NCT03124212 clinical trial?

NCT03124212 is sponsored by University of Basel. The principal investigator is Maria C Katapodi, PhD at University of Basel. The trial plans to enroll 700 participants.

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ClinicalMetric — Independent clinical trial intelligence platform. Not affiliated with NIH, ClinicalTrials.gov, the U.S. FDA, or any pharmaceutical company, hospital, or clinical research organization. Trial data is sourced from ClinicalTrials.gov for informational purposes only and does not constitute medical advice. Do not make any treatment, enrollment, or health decisions based solely on information found here — always consult a qualified healthcare professional. Full Disclaimer  ·  Last Reviewed: April 2026  ·  Data Methodology