Abstract 178TiP
Background
Women carriers of BRCA1/2 gene mutations face a lifetime risk (penetrance) of developing breast cancer of 60%. Epidemiological studies have suggested that other genetic (polymorphisms) and environmental factors (diet, physical activity) and metabolic/hormonal/anthropometric/inflammatory factors affect BRCA penetrance. However, data regarding the associations of these penetrance modulators and BRCA-related cancers mainly come from retrospective case-control analyses and the results are likely to be distorted by bias. The BRAVE (Brca, ReseArch, Virtual, Education) study aims to create a web-based prospective cohort and biological bank of unaffected women carriers of BRCA1/2 pathogenic variants to investigate the role of genetic and environmental factors, and their interaction, in the occurrence of primary BRCA-related cancers.
Trial design: Women carriers of BRCA1/2 pathogenic variants, with access to internet, aged 18-70 years, with no clinical evidence of cancer are eligible. The BRAVE digital platform will include a study web-site, a “portal” (available both as web and mobile application) and a web-based dashboard for researchers. After subscribing on the study's specific web-site (anagraphic form) and the consent form signed (mandatory steps), the woman will receive a confirmatory e-mail with individual identification number and password. Once become a member, the woman will have to complete the anamnestic form, lifestyle questionnaires, and to book the appointment for blood examination according to a predefined appointments’ list. The women included in the web-based cohort will gain a continuous free access to a large amount of contents and updates about the progress of the study, BRCA mutations and BRCA-related disease, research about new therapies, potential risk/protective factors, generic lifestyle recommendations, regulatory news, etc. Recruiting 2000 unaffected BRCA women we expect ∼200 new BRCA-related cancers in a follow-up period of 3 years. The success of this study will ensure the definition of further predictive risk models and comprehensive recommendations aimed at improving the management of BRCA families.
Legal entity responsible for the study
Fondazione IRCCS Istituto Nazionale dei Tumori di Milano.
Funding
Ricerca Corrente del Ministero della Salute; Fondazione IRCCS Istituto Nazionale dei Tumori di Milano.
Disclosure
All authors have declared no conflicts of interest.