Hereditary Breast and Ovarian CancerCASCADENCT03124212
Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
An observational study of Hereditary Breast and Ovarian Cancer and Lynch Syndrome, run by University of Basel at 9 sites in Switzerland.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Breast and Ovarian Cancer, Lynch Syndrome
- What is being tested?
- CASCADE genetic screening
- How many people
- 700 participants
- Where
- 9 sitesSwitzerland
- Study dates
- 1 Apr 2017to 31 Jan 2035
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Living carriers of pathogenic mutations associated with HBOC and LS, and their blood relatives (first- and second-degree, and first cousins)
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
9 sites in 1 country. Contact the study team or a site near you to ask about taking part.
9 sites in 1 country
Switzerland9 sites, 8 recruiting
- Recruiting
University Hospital Basel
Basel, 4056
Karl Heinimann, PhD, ++41612653654, Karl.Heinimann@usb.ch
Nicole Burki, MD, ++41615565883, nicole.buerki@aeschenpraxis.ch
- Recruiting
Istituto Oncologico della Zvizzera Italiana
Bellinzona, 6962
Olivia Pagani, MD, ++918118435, olivia.pagani@eoc.ch
Rossella Graffeo, MD, ++918118435, Rossella.GraffeoGalbiati@eoc.ch
- Terminated
Gastroenterology clinic
Bern, 2010
- Recruiting
Universitatklinik fur Medizinische Onkologie, Inselspital
Bern, 3010
Manuela Rabaglio, MD, ++41316324370, Manuela.Rabaglio@insel.ch
Amina Scherz, MD, ++41316324114, Amina.Scherz@insel.ch
- Recruiting
Hôpital du Jura Service d'Oncologie
Delémont, Canton of Jura, 2800
Christian Monnerat, MD, +41324212887, christian.monnerat@h-ju.ch
Christian Monnerat, MD
- Not yet recruiting
HFR Fribourg - Hôpital Cantonal
Fribourg, Canton of Fribourg, 1752
Souria Aissaoui, PhD, +4126306455070, souria.aissaoui@genesupport.ch
Souria Aissaoui, PhD
- Not yet recruiting
Hirslanden Clinic Des Grangettes
Geneva, Canton of Geneva, 1224
Souria Aissaoui, PhD, +41228071770, Souria.aissaoui@genesupport.ch
Souria Aissaoui, PhD
- Recruiting
Unite d'Oncogenetique et de Prevention des Cancers
Geneva, 1205
Pierre Chappuis, MD, PhD, ++41223729853, Pierre.Chappuis@hcuge.ch
Pierre O Chappuis, MD, PhD
- Not yet recruiting
Katonsspital Winterthur Tumorzentrum Brustzentrum
Winterthur, Canton of Zurich, 8401
Ursina Zuerrer-Haerdi, MD, +41522662583, ursina.zuerrer@ksw.ch
Ursina Zuerrer-Haerdi, MD
About this study
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.
Read more
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.
Read the detailed description
Please see study protocol provided in the references
- Being tested
- CASCADE genetic screening
- Keywords
- mutation carrier, blood relative, genetic testing, family-based cohort
- Medical subject headings
- Hereditary Breast and Ovarian Cancer Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CASCADE genetic screeningOther
Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives
What is being measured
The primary outcome is the main question the study is designed to answer.
Establishing the CASCADE Cohort
Response rate for Index Patients with HBOC and LS and blood relatives
Measured: 12 months
Secondary outcomes (1)
Cancer Surveillance
Number of mammograms, CBEs and MRIs of Index Patients and Blood Relatives
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Apr 2017
- Study start1 Apr 2017
- Primary completion31 Jan 2035 (estimated)
- Study completion31 Jan 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Hereditary Breast and Ovarian CancerStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 700 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Basel
- Sponsor type
- University, hospital or other
- Collaborators
- Kantonal Spital Solothurn, Olten, Kantonal Hospital Lucerne, Lindenhofgruppe, Praxis Medidonna, Centre Hospitalier Universitaire Vaudois (CHUV), Service de Médecine Génétique, 1011 Lausanne, Hôpital du Valais, Institut Central des Hôpitaux, Department of Medical Genetics, 1950 Sion, Medizinische Onkologie, Kantonsspital Olten, 4600 Olten, Medizinische Onkologie, Kantonsspital Luzern, 6000 Luzern
- Responsible party
- Principal investigator, Maria Katapodi, University of Basel
- Investigators
- Maria C Katapodi, PhD, Principal investigator, University of Basel
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03124212
- Sponsor's protocol ID
- 2016-02052
- Other IDs
- 2016
- Acronym
- CASCADE
- Status last verified
- May 2026
- First submitted
- 10 Apr 2017
- Last updated
- 13 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Upon request, including purpose and expected timeline, anonymized patient data will be shared
Publications
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.
PubMed 28931501Nikolaidis 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.
PubMed 30695780
Study at a glance
From the registry record, last updated by the sponsor on 13 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
- ClinicalTrials.gov ID
- NCT03124212
- Acronym / sponsor ID
- CASCADE / 2016-02052
- Keywords
- mutation carrier, blood relative, genetic testing, family-based cohort
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 700 participants (estimated)
- Lead sponsor
- University of BaselUniversity, hospital or other
- Collaborators
- Kantonal Spital Solothurn, Olten, Kantonal Hospital Lucerne, Lindenhofgruppe, Praxis Medidonna, Centre Hospitalier Universitaire Vaudois (CHUV), Service de Médecine Génétique, 1011 Lausanne, Hôpital du Valais, Institut Central des Hôpitaux, Department of Medical Genetics, 1950 Sion, Medizinische Onkologie, Kantonsspital Olten, 4600 Olten, Medizinische Onkologie, Kantonsspital Luzern, 6000 Luzern
- Study start
- 1 Apr 2017 (actual)
- Primary completion
- 31 Jan 2035 (estimated)
- Study completion
- 31 Jan 2035 (estimated)
- First posted
- 21 Apr 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Please see study protocol provided in the references
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Living carriers of pathogenic mutations associated with HBOC and LS, and their blood relatives (first- and second-degree, and first cousins)
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| CASCADE genetic screeningFamily-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives | Other | – |
Primary outcome
Establishing the CASCADE Cohort
Time frame: 12 months
Response rate for Index Patients with HBOC and LS and blood relatives
1 secondary outcome
Cancer Surveillance
Time frame: 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 May 2026.
- Background: PubMed 28931501Katapodi 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.
- Background: PubMed 30695780Nikolaidis 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.
- CASCADE websiteLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Upon request, including purpose and expected timeline, anonymized patient data will be shared
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Maria C Katapodi, PhD principal investigator
University of Basel
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Breast and Ovarian Cancer and Lynch Syndrome, run by University of Basel at 9 sites in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Maria C Katapodi, PhD (++41791095163, maria.katapodi@unibas.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establishing the CASCADE Cohort (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03124212, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 May 2026.