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

Lynch Syndrome Clinical Trial

— CASCADE  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03124212
• Other study ID #: 2016-02052
• Status: Recruiting
• Start date: April 1, 2017
• Est. completion date: September 30, 2024

Study information

• Verified date: December 2023
• Source: University of Basel
• Contact: Maria C Katapodi, PhD
• Phone: ++41791095163
• Email: maria.katapodi[@]unibas.ch
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

Please see study protocol provided in the references

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 700
• Est. completion date: September 30, 2024
• Est. primary completion date: July 31, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Carcinoma, Ovarian Epithelial
• Colorectal Neoplasms, Hereditary Nonpolyposis
• Hereditary Breast and Ovarian Cancer
• Hereditary Breast and Ovarian Cancer Syndrome
• Lynch Syndrome
• Ovarian Neoplasms
• Syndrome

Intervention

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

Locations

Country	Name	City	State
Switzerland	University Hospital Basel	Basel
Switzerland	Istituto Oncologico della Zvizzera Italiana	Bellinzona
Switzerland	Gastroenterology clinic	Bern
Switzerland	Universitatklinik fur Medizinische Onkologie, Inselspital	Bern
Switzerland	Hôpital du Jura Service d'Oncologie	Delémont	Jura
Switzerland	HFR Fribourg - Hôpital Cantonal	Fribourg
Switzerland	Hirslanden Clinic Des Grangettes	Geneva
Switzerland	Unite d'Oncogenetique et de Prevention des Cancers	Geneva
Switzerland	Katonsspital Winterthur Tumorzentrum Brustzentrum	Winterthur	Zurich

Sponsors (1)

Lead Sponsor	Collaborator
University of Basel

Country where clinical trial is conducted

Switzerland, 

References & Publications (2)

Katapodi MC, Viassolo V, Caiata-Zufferey M, Nikolaidis C, Buhrer-Landolt R, Buerki N, Graffeo R, Horvath HC, Kurzeder C, Rabaglio M, Scharfe M, Urech C, Erlanger TE, Probst-Hensch N, Heinimann K, Heinzelmann-Schwarz V, Pagani O, Chappuis PO. Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol. JMIR Res Protoc. 2017 Sep 20;6(9):e184. doi: 10.2196/resprot.8138. — View Citation

Nikolaidis C, Ming C, Pedrazzani C, van der Horst T, Kaiser-Grolimund A, Ademi Z, Buhrer-Landolt R, Burki N, Caiata-Zufferey M, Champion V, Chappuis PO, Kohler C, Erlanger TE, Graffeo R, Hampel H, Heinimann K, Heinzelmann-Schwarz V, Kurzeder C, Monnerat C, Northouse LL, Pagani O, Probst-Hensch N, Rabaglio M, Schoenau E, Sijbrands EJG, Taborelli M, Urech C, Viassolo V, Wieser S, Katapodi MC; for the CASCADE Consortium. Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop. Public Health Genomics. 2018;21(3-4):121-132. doi: 10.1159/000496495. Epub 2019 Jan 29. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Establishing the CASCADE Cohort	Response rate for Index Patients with HBOC and LS and blood relatives	12 months
Secondary	Cancer Surveillance	Number of mammograms, CBEs and MRIs of Index Patients and Blood Relatives	12 months

External Links

•   CASCADE website