The e-BRAVE study: A prospective web-based cohort and biobank of women carriers of BRCA mutations.

IF 3.1 4区医学 Q3 ONCOLOGY

Tumori Pub Date : 2025-10-01 Epub Date: 2025-08-09 DOI:10.1177/03008916251353420

Andreina Oliverio, Carlotta Meli, Eleonora Bruno, Michela Bianchi, Giada Sassi, Elisabetta Venturelli, Ambra Cesareo, Claudio Pighini, Margherita Patruno, Maria Di Gennaro, Stefania Tommasi, Antonella Daniele, Silvia Schiavone, Letizia Galasso, Stefano Magno, Gianluca Franceschini, Alberta Ferrari, Robert Fruscio, Daniele Morelli, Claudia Chiodoni, Siranoush Manoukian, Patrizia Pasanisi

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引用次数: 0

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.

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e-BRAVE研究：BRCA突变女性携带者的前瞻性网络队列和生物库。

背景：携带BRCA1/2突变的女性患乳腺癌和/或卵巢癌的终生风险（外显率）非常高。然而，相当大比例的携带者根本没有患上癌症，或者只是在晚年才患上癌症，因此表明这种风险有可能被调节。流行病学研究表明，其他遗传（多态性）和环境因素（生活方式）影响外显率。然而，有关这些关联的数据主要来自回顾性病例对照分析，结果可能因偏差而失真。目的：e-BRAVE （Brca, ReseArch, Virtual, Education）研究旨在创建一个基于网络的BRCA1/2突变未受影响女性携带者的前瞻性队列和生物库，以研究多态性和环境因素及其相互作用在原发性Brca相关癌症发生中的作用。方法：一个创新的数字平台（包括一个移动应用程序）将用于增强参与者和研究人员之间的协同作用，支持与妇女的接触，遵守干预计划，自我赋权，并辅以活动跟踪和监测。结果：根据既往研究的发病率资料，我们估计总发病率为~3.7% /年。结论：本研究的成功将确保进一步的预测风险模型的定义和全面的建议，旨在改善BRCA妇女的管理和健康。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Tumori 医学-肿瘤学

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Tumori Journal covers all aspects of cancer science and clinical practice with a strong focus on prevention, translational medicine and clinically relevant reports. We invite the publication of randomized trials and reports on large, consecutive patient series that investigate the real impact of new techniques, drugs and devices inday-to-day clinical practice.