Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland (CASCADE)

December 4, 2023 updated by: Maria Katapodi, University of Basel

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Please see study protocol provided in the references

Study Type

Observational

Enrollment (Estimated)

700

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Switzerland
      • Basel, Switzerland, 4056
        • Recruiting
        • University Hospital Basel
        • Contact:
        • Contact:
        • Principal Investigator:
          • Viola Heinzelmann-Schwarz, MD
        • Principal Investigator:
          • Karl Heinimann, PhD, MD
        • Sub-Investigator:
          • Nicole Burki, MD
        • Sub-Investigator:
          • Christian Kurzeder, MD, PhD
      • Bellinzona, Switzerland, 6962
        • Recruiting
        • Istituto Oncologico della Zvizzera Italiana
        • Contact:
        • Contact:
        • Principal Investigator:
          • Rossella Graffeo-Galbiati, MD
        • Sub-Investigator:
          • Monica Taborelli, PhD
      • Bern, Switzerland, 2010
        • Terminated
        • Gastroenterology clinic
      • Bern, Switzerland, 3010
        • Recruiting
        • Universitatklinik fur Medizinische Onkologie, Inselspital
        • Contact:
        • Contact:
        • Principal Investigator:
          • Manuela Rabaglio, MD
        • Sub-Investigator:
          • Amina Scherz, MD
      • Fribourg, Switzerland, 1752
        • Not yet recruiting
        • HFR Fribourg - Hôpital Cantonal
        • Contact:
        • Sub-Investigator:
          • Souria Aissaoui, PhD
      • Geneva, Switzerland, 1205
        • Recruiting
        • Unite d'Oncogenetique et de Prevention des Cancers
        • Contact:
        • Principal Investigator:
          • Pierre O Chappuis, MD, PhD
      • Geneva, Switzerland, 1224
        • Not yet recruiting
        • Hirslanden Clinic Des Grangettes
        • Sub-Investigator:
          • Souria Aissaoui, PhD
        • Contact:
    • Jura
      • Delémont, Jura, Switzerland, 2800
        • Recruiting
        • Hôpital du Jura Service d'Oncologie
        • Contact:
        • Principal Investigator:
          • Christian Monnerat, MD
    • Zurich
      • Winterthur, Zurich, Switzerland, 8401
        • Not yet recruiting
        • Katonsspital Winterthur Tumorzentrum Brustzentrum
        • Contact:
        • Principal Investigator:
          • Ursina Zuerrer-Haerdi, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Living carriers of pathogenic mutations associated with HBOC and LS, and their blood relatives (first- and second-degree, and first cousins)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Establishing the CASCADE Cohort
Time Frame: 12 months
Response rate for Index Patients with HBOC and LS and blood relatives
12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cancer Surveillance
Time Frame: 12 months
Number of mammograms, CBEs and MRIs of Index Patients and Blood Relatives
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Basel

Investigators

  • Principal Investigator: Maria C Katapodi, PhD, University of Basel

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 1, 2017

Primary Completion (Estimated)

July 31, 2024

Study Completion (Estimated)

September 30, 2024

Study Registration Dates

First Submitted

April 10, 2017

First Submitted That Met QC Criteria

April 18, 2017

First Posted (Actual)

April 21, 2017

Study Record Updates

Last Update Posted (Estimated)

December 5, 2023

Last Update Submitted That Met QC Criteria

December 4, 2023

Last Verified

December 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2016-02052

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Upon request, including purpose and expected timeline, anonymized patient data will be shared

IPD Sharing Time Frame

January 2024- December 2029

IPD Sharing Access Criteria

Upon request - TBD

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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