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

Sponsor

University of Basel (Other)

Overall Status

Recruiting

CT.gov ID

NCT03124212

Collaborator

(none)

700

Enrollment

Locations

Anticipated Duration (Months)

77.8

Patients Per Site

0.9

Patients Per Site Per Month

Study Details

Study Description

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:

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.
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.
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	Phase
Hereditary Breast and Ovarian Cancer Lynch Syndrome	Other: CASCADE genetic screening

Detailed Description

Please see study protocol provided in the references

Study Design

Study Type:

Observational

Anticipated 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 :

Apr 1, 2017

Anticipated Primary Completion Date :

Jul 31, 2024

Anticipated Study Completion Date :

Sep 30, 2024

Outcome Measures

Primary Outcome Measures

Establishing the CASCADE Cohort [12 months]
Response rate for Index Patients with HBOC and LS and blood relatives

Secondary Outcome Measures

Cancer Surveillance [12 months]
Number of mammograms, CBEs and MRIs of Index Patients and Blood Relatives

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

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.

Exclusion Criteria:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Hôpital du Jura Service d'Oncologie	Delémont	Jura	Switzerland	2800
2	Katonsspital Winterthur Tumorzentrum Brustzentrum	Winterthur	Zurich	Switzerland	8401
3	University Hospital Basel	Basel		Switzerland	4056
4	Istituto Oncologico della Zvizzera Italiana	Bellinzona		Switzerland	6962
5	Gastroenterology clinic	Bern		Switzerland	2010
6	Universitatklinik fur Medizinische Onkologie, Inselspital	Bern		Switzerland	3010
7	HFR Fribourg - Hôpital Cantonal	Fribourg		Switzerland	1752
8	Unite d'Oncogenetique et de Prevention des Cancers	Geneva		Switzerland	1205
9	Hirslanden Clinic Des Grangettes	Geneva		Switzerland	1224