Intention to inform relatives, rates of cascade testing, and preference for patient-mediated communication in families concerned with hereditary breast and ovarian cancer and Lynch syndrome: The Swiss CASCADE cohort

Sarki, M and Ming, C and Aissaoui, S and Burki, N and Caiata Zufferey, Maria and Erlanger, T and Monnerat, C and Graffeo-Galbiati, R and Heinimann, K and Heinzelmann-Schwarz, V and Koechlin, H and Probst-Hensch, N and Rabaglio, M and Zürrer, U and Chappuis, P and Katapodi, M (2022) Intention to inform relatives, rates of cascade testing, and preference for patient-mediated communication in families concerned with hereditary breast and ovarian cancer and Lynch syndrome: The Swiss CASCADE cohort. Cancers, 14 (1636).

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Abstract

This paper presents important information for the implementation of cascade screening programs for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). The study examined theory-based predictors of index cases’ intention to invite relatives to a family- based cohort, rates of cascade testing among relatives, and preferences of those who carry a pathogenic variant for patient- or provider-mediated communication of testing results to untested relatives. While index cases are equally likely to invite relatives of both genders, males are more likely to not respond to the invitation, especially for HBOC. Findings have implications for tailoring cascade screening programs.

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