CASCADE - Cancer predisposition cascade genetic screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland
Third-party funded project
Project title CASCADE - Cancer predisposition cascade genetic screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland
Principal Investigator(s) Katapodi, Maria
Co-Investigator(s) Chappuis, Pierre O
Pagani, Olivia
Heinimann , Karl
Rabaglio, Manuela
Caiata-Zufferey, Maria
Buerki , Nicole
Kurzeder , Christian
Graffeo Galbiati , Rossella
Viassolo, Valeria
Erlanger, Tobias E
Probst-Hensch, Nicole
Heinzelmann, Viola
Project Members Bührer-Landolt, Rosmarie
Schoenau , Eveline
Scharfe, Michael
Giger, Corinne
Urech , Corinne
Organisation / Research unit Departement Public Health / Nursing Science (Katapodi)
Project Website www.swisscascade.ch
Project start 15.04.2016
Probable end 14.04.2017
Status Completed
Abstract

Background: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management. Objective: Cascade screening is the systematic identification and testing of relatives of a known mutation carrier. It determines whether asymptomatic relatives also carry the known variant, needing management options to reduce future harmful outcomes. Specific aims of the CASCADE study are to (1) survey index cases with HBOC or LS from clinic-based genetic testing records and determine their current cancer status and surveillance practices, needs for coordination of medical care, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to serve as advocates for cancer genetic services to blood relatives, (2) survey first- and second-degree relatives and first-cousins identified from pedigrees or family history records of HBOC and LS index cases and determine their current 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, quality of life, and willingness to participate in a study designed to increase use of cancer genetic services, and (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 relatives. Methods: CASCADE is a longitudinal study using surveys (online or paper/pencil) and focus groups, designed to elicit factors that enhance cascade genetic testing for HBOC and LS in Switzerland. Repeated observations are the optimal way for assessing these outcomes. Focus groups will examine barriers in patient-provider and patient-family communication, and the acceptability of a family-based communication, coping, and decision-support intervention. The survey will be developed in English, translated into three languages (German, French, and Italian), and back-translated into English, except for scales with validated versions in these languages. Results: Descriptive analyses will include calculating means, standard deviations, frequencies, and percentages of variables and participant descriptors. Bivariate analyses (Pearson correlations, chi-square test for differences in proportions, and t test for differences in means) will assess associations between demographics and clinical characteristics. Regression analyses will incorporate generalized estimating equations for pairing index cases with their relatives and explore whether predictors are in direct, mediating, or moderating relationship to an outcome. Focus group data will be transcribed verbatim and analyzed for common themes. Conclusions: Robust evidence from basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for genetic predisposition to HBOC and LS. CASCADE is designed to address translation of this knowledge into public health interventions. Trial Registration: ClinicalTrials.gov NCT03124212; https://clinicaltrials.gov/ct2/show/NCT03124212 (Archived by WebCite at http://www.webcitation.org/6tKZnNDBt)

Financed by University of Basel

Published results ()

  ID Autor(en) Titel ISSN / ISBN Erschienen in Art der Publikation
3925999  Katapodi, Maria C.; Viassolo, Valeria; Caiata-Zufferey, Maria; Nikolaidis, Christos; Bührer-Landolt, Rosmarie; Buerki, Nicola G.; Graffeo, Rossella; Horváth, Henrik Csaba; Kurzeder, Christian; Rabaglio, Manuela; Scharfe, Michael; Urech, Corinne; Erlanger, Tobias E.; Probst-Hensch, Nicole; Heinimann, Karl; Heinzelmann-Schwarz, Viola; Pagani, Olivia; Chappuis, Pierre O.  Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol  1929-0748  JMIR Research Protocols  Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift) 
3925998  Katapodi, Maria C; Viassolo, Valeria; Caiata-Zufferey, Maria; Nikolaidis, Christos; Bührer-Landolt, Rosmarie; Buerki, Nicole; Graffeo, Rossella; Horváth, Henric Csava; Kurzeder, Christian; Rabaglio, ManuelaScharfe, Michael; Urech, Corinne; Erlanger, Tobias E; Probst-Hensch, Nicole; Heinimann, Karl; Heinzelmann-Schwarz, Viola; Pagani, Olivia; Chappuis, Pierre O.  Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol  1438-8871  Journal of medical Internet research  Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift) 

Cooperations ()

  ID Kreditinhaber Kooperationspartner Institution Laufzeit - von Laufzeit - bis
3977920  Katapodi, Maria  Chappuis, Pierre O, Prof. Dr.  Geneva University Hospitals (HUG)  01.04.2016  31.12.2021 
3977923  Katapodi, Maria  Rabaglio, Manuela, MD  Inselspital, Bern  01.04.2016  31.12.2021 
3977924  Katapodi, Maria  Pagani, O, Prof. Dr.  IOSI  01.04.2016  31.12.2021 
3977926  Katapodi, Maria  Heinimann, Karl, Prof. Dr. med. Prof. phil  University Hospital Basel  01.04.2016  31.12.2021 
3977930  Katapodi, Maria  Heinzelmann-Scharz, Viola, Prof. Dr.  University Hospital Basel, Frauenklinik  01.04.2016  31.12.2021 
3977935  Katapodi, Maria  Rauch, Anita, Prof. Dr.  University of Zurich  01.01.2018  31.12.2021 
3977938  Katapodi, Maria  Monnerat, Christian, MD  Hospital of Jura  01.01.2018  31.12.2020 
   

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