The e-BRAVE study: A prospective web-based cohort and biobank of women carriers of BRCA mutations
- PMID: 40782011
- PMCID: PMC12476487
- DOI: 10.1177/03008916251353420
The e-BRAVE study: A prospective web-based cohort and biobank of women carriers of BRCA mutations
Abstract
Background: Women carriers of BRCA1/2 mutations face a very high lifetime risk (penetrance) of developing breast and/or ovarian cancer. A sizeable proportion of carriers, however, does not develop cancer at all or develop it only late in life, thus suggesting a potential modulation of this risk. Epidemiological studies have suggested that other genetic (polymorphisms) and environmental factors (lifestyle) affect penetrance. However, data regarding these associations mainly come from retrospective case-control analyses and the results are likely to be distorted by bias.
Aims: The e-BRAVE (Brca, ReseArch, Virtual, Education) study aims to create a web-based prospective cohort and biological bank of unaffected women carriers of BRCA1/2 mutations to investigate the role of polymorphisms and environmental factors, and their interaction, in the occurrence of primary BRCA-related cancers.
Methods: An innovative digital platform (including a mobile App) will be used to empower the synergy between participants and researchers, supporting engagement with women, adherence to intervention plan, self-empowerment, flanked by activities tracking and monitoring.
Results: Based on the incidence data in previous studies, we estimate to observe an overall incidence of ~3.7% year.
Conclusion: The success of this study will ensure the definition of further predictive risk models and comprehensive recommendations aimed at improving management and health of BRCA women.
Keywords: BRCA; gene- environment interaction; lifestyle; prevention; web-based cohort.
Conflict of interest statement
Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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References
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- Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017; 317: 2402–2416. - PubMed
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- Berrino J, Berrino F, Francisci S, et al. Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability. Fam Cancer 2015; 14: 117-128 . - PubMed
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- Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 2013; 105: 812–822. - PubMed
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