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

NCT03124212 | Recruiting DMC

• 1 other identifier: 2016-02052
• Study Type: observational
• Target: 700
• Locations: 1 country
• Sites: 9

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. 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. 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. 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.

Conditions

Hereditary Breast and Ovarian Cancer; Lynch Syndrome

Keywords

mutation carrier; blood relative; genetic testing; family-based cohort

Outcome Measures

Primary Outcomes (1)

• Establishing the CASCADE Cohort

  Response rate for Index Patients with HBOC and LS and blood relatives

  12 months

Secondary Outcomes (1)

• Cancer Surveillance

  12 months

Interventions

CASCADE genetic screening OTHER

Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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)

You may qualify if:

• Carrier of a mutation associated with HBOC or LS
• Have at least one living blood relative
• Men and women
• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Basel: lead
• Kantonal Spital Solothurn, Olten: collaborator
• Kantonal Spital Wallis, Sion: collaborator
• Kantonal Hospital Lucerne: collaborator

Study Sites (9)

HFR Fribourg - Hôpital Cantonal

Fribourg, Canton of Fribourg, 1752, Switzerland

NOT YET RECRUITING

Hirslanden Clinic Des Grangettes

Geneva, Canton of Geneva, 1224, Switzerland

NOT YET RECRUITING

Hôpital du Jura Service d'Oncologie

Delémont, Canton of Jura, 2800, Switzerland

RECRUITING

Katonsspital Winterthur Tumorzentrum Brustzentrum

Winterthur, Canton of Zurich, 8401, Switzerland

NOT YET RECRUITING

University Hospital Basel

Basel, 4056, Switzerland

RECRUITING

Istituto Oncologico della Zvizzera Italiana

Bellinzona, 6962, Switzerland

RECRUITING

Gastroenterology clinic

Bern, 2010, Switzerland

TERMINATED

Universitatklinik fur Medizinische Onkologie, Inselspital

Bern, 3010, Switzerland

RECRUITING

Unite d'Oncogenetique et de Prevention des Cancers

Geneva, 1205, Switzerland

RECRUITING

Related 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.

  PMID: 28931501 BACKGROUND

• 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.

  PMID: 30695780 BACKGROUND

Related Links

• CASCADE website

MeSH Terms

Conditions

Hereditary Breast and Ovarian Cancer Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis

Condition Hierarchy (Ancestors)

Breast Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Neoplasms; Endocrine Gland Neoplasms; Neoplastic Syndromes, Hereditary; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases; Gonadal Disorders; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Maria C Katapodi, PhD

  University of Basel

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Maria C Katapodi, PhD

CONTACT

++41791095163; maria.katapodi@unibas.ch

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Nursing Science

Study Record Dates

• First Submitted: April 10, 2017
• First Posted: April 21, 2017
• Study Start: April 1, 2017
• Primary Completion (Estimated): July 31, 2027
• Study Completion (Estimated): September 30, 2027
• Last Updated: February 14, 2025

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: January 2024- December 2029
• Access Criteria: Upon request - TBD

Locations

CH (9)