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

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ClinicalTrials.gov Identifier: NCT03124212
Recruitment Status : Recruiting
First Posted : April 21, 2017
Last Update Posted : August 27, 2019
Sponsor:
Information provided by (Responsible Party):
Maria Katapodi, University of Basel

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.

Condition or disease Intervention/treatment
Hereditary Breast and Ovarian Cancer Lynch Syndrome Other: CASCADE genetic screening

Detailed Description:
Please see study protocol provided in the references

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Study Type : Observational
Estimated Enrollment : 700 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
Actual Study Start Date : April 1, 2017
Estimated Primary Completion Date : March 31, 2024
Estimated Study Completion Date : September 30, 2024



Intervention Details:
  • Other: CASCADE genetic screening
    Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives


Primary Outcome Measures :
  1. Establishing the CASCADE Cohort [ Time Frame: 12 months ]
    Response rate for Index Patients with HBOC and LS and blood relatives


Secondary Outcome Measures :
  1. Cancer Surveillance [ Time Frame: 12 months ]
    Number of mammograms, CBEs and MRIs of Index Patients and Blood Relatives



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
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)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03124212


Contacts
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Contact: Maria C Katapodi, PhD ++41791095163 maria.katapodi@unibas.ch

Locations
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Switzerland
University Hospital Basel Recruiting
Basel, Switzerland, 4056
Contact: Karl Heinimann, PhD    ++41612653654    Karl.Heinimann@usb.ch   
Contact: Nicole Burki, MD    ++41615565883    nicole.buerki@aeschenpraxis.ch   
Principal Investigator: Viola Heinzelmann-Schwarz, MD         
Principal Investigator: Karl Heinimann, PhD, MD         
Sub-Investigator: Nicole Burki, MD         
Sub-Investigator: Christian Kurzeder, MD, PhD         
Istituto Oncologico della Zvizzera Italiana Not yet recruiting
Bellinzona, Switzerland, 6962
Contact: Olivia Pagani, MD    ++918118435    olivia.pagani@eoc.ch   
Contact: Rossella Graffeo, MD    ++918118435    Rossella.GraffeoGalbiati@eoc.ch   
Principal Investigator: Olivia Pagani, MD         
Sub-Investigator: Rossella Graffeo, MD         
Bauch- und Tumorzentrum der Universitatsklinik fur Viszerale Chirurgie und Medicine, Inselspital Not yet recruiting
Bern, Switzerland, 2010
Contact: Henrik C Horvath, PhD    ++41316325900    Henrik.Horvath@insel.ch   
Sub-Investigator: Henrik C Horvath, PhD         
Universitatklinik fur Medizinische Onkologie, Inselspital Not yet recruiting
Bern, Switzerland, 3010
Contact: Manuela Rabaglio, MD    ++41316324370    Manuela.Rabaglio@insel.ch   
Contact: Rosmarie Buhrer, MSN    ++41316325944    Rosmarie.Buehrer@insel.ch   
Sub-Investigator: Manuela Rabaglio, MD         
Unite d'Oncogenetique et de Prevention des Cancers Not yet recruiting
Geneva, Switzerland, 1205
Contact: Pierre Chappuis, MD, PhD    ++41223729853    Pierre.Chappuis@hcuge.ch   
Contact: Valeria Viassolo, MD    ++41223729853    Valeria.Viassolo@hcuge.ch   
Principal Investigator: Pierre O Chappuis, MD, PhD         
Sub-Investigator: Valeria Viassolo, MD         
Sponsors and Collaborators
University of Basel
Investigators
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Principal Investigator: Maria C Katapodi, PhD University of Basel

Additional Information:
Publications:
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Responsible Party: Maria Katapodi, Professor of Nursing Science, University of Basel
ClinicalTrials.gov Identifier: NCT03124212     History of Changes
Other Study ID Numbers: 2016-02052
First Posted: April 21, 2017    Key Record Dates
Last Update Posted: August 27, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Upon request, including purpose and expected timeline, anonymized patient data will be shared
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Time Frame: January 2024- December 2029
Access Criteria: Upon request - TBD

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Maria Katapodi, University of Basel:
mutation carrier
blood relative
genetic testing
family-based cohort
Additional relevant MeSH terms:
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Genetic Diseases, Inborn
Ovarian Neoplasms
Carcinoma, Ovarian Epithelial
Colorectal Neoplasms, Hereditary Nonpolyposis
Hereditary Breast and Ovarian Cancer Syndrome
Syndrome
Disease
Pathologic Processes
Endocrine Gland Neoplasms
Neoplasms by Site
Neoplasms
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Genital Neoplasms, Female
Urogenital Neoplasms
Endocrine System Diseases
Gonadal Disorders
Carcinoma
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Colorectal Neoplasms
Intestinal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
Neoplastic Syndromes, Hereditary
Digestive System Diseases
Gastrointestinal Diseases
Colonic Diseases
Intestinal Diseases