BRCA Mutation Carriers' Platform, a Multicenter Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 10,000
- 试验地点
- 39
- 主要终点
- Collection data about BRCA mutation
研究概览
简要总结
Subjects who carry mutations in breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2 genes) are at higher risk of developing cancers. Despite the cumulative amount of evidence published in the literature in the last two decades, the management of BRCA mutation carriers is still not completely defined.
Since the prevalence of the mutation is estimated to be 1:400 - 1:500 individuals, the total number of BRCA mutation carriers should be around 140.000 - 150.000 in the Italian population. It is estimated that 87% of women with BRCA mutations will experience, in their lifetime, a tumor with a genetic origin. About 20% of the 5200 ovarian cancer cases diagnosed each year in Italy has a genetic origin and could potentially be the object of primary prevention. To date, and to the best of our knowledge, a national prospective data collection on women with BRCA mutations has not been yet established.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •All women who are 18 years of age or older;
- •All women who known to be carriers of a pathogenetic mutation class 4 and 5 of the International Agency of Research on Cancer classification) of the BRCA1 or BRCA2 genes.
排除标准
- •Age < 18 years old;
- •No pathogenetic mutation carriers.
结局指标
主要结局
Collection data about BRCA mutation
时间窗: 1 day
To collect data of each female individual carrying a BRCA1 or BRCA2 mutation
次要结局
- GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS(6 months)
- CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS(6 months)
- RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND SPECIFIC TYPES OF CANCER(6 months)
- CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION(6 months)
- LIFESTYLE RISK FACTORS(6 months)
- DEFINITION OF PREVENTIVE STRATEGIES(6 months)
- Risk-reducing salpingo-oophorectomy(6 months)