Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 200
- 试验地点
- 8
- 主要终点
- Sensitivity of plasma TP53 mutation detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation
研究概览
简要总结
BRCA1 carriers who are at high risk of developing either a relapse and/or a new cancer growth will be included. These patients will be followed up during 30 months (2,5 years) with mutated TP53 mutation detection or during 42 months (3,5 years) with mutated TP53 mutation detection and circulating tumor cells detection (CTC) performed at each hospital visit (for technical reason only patients included at Institut Curie will be proposed to participate to the CTC substudy).
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 30 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Patient with no evidence of any invasive tumor mass at inclusion (clinical and, if any, radiological exams)
- •Carriers of known germline BRCA1 deleterious mutation (a personal history of cancer is NOT mandatory).
- •Age ≥ 30 years for patient with personal previous history of cancer
- •Age ≥ 40 years for patient without personal previous history of cancer
- •Patient who a follow-up visit is scheduled in the including center at least once a year
- •Patient having health care insurance
- •Signed informed consent by patient
排除标准
- •Patient presenting with invasive tumor masses (e.g. stage IV cancer or localized cancer not yet surgically removed)
- •Carriers of germline BRCA1 variant of unknown significance
- •Carriers of germline BRCA2 deleterious mutation or variant
- •Individuals with a low risk of BRCA1-related tumor growth, i.e. women who underwent prophylactic bilateral mastectomy AND adnexectomy.
- •Any medical or other condition that in the Investigator's opinion rendered the patient unsuitable for this study
- •Patient deprived from ability to decide on her own.
- •Patient unable to have a regular follow up for geographical, social or psychological reasons.
结局指标
主要结局
Sensitivity of plasma TP53 mutation detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation
时间窗: Up to 42 months
Sensitivity = % of patients with detectable levels of mutated TP53 ctDNA among those who experience a new tumor growth (relapse and/or new tumor).
Specificity of plasma TP53 mutation detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation
时间窗: Up to 42 months
Specificity = % of patients with undetectable levels of mutated TP53 ctDNA among those who don't experience a new tumor growth (diagnosed within 6 months after the blood draw).
次要结局
- Specificity of circulating tumor cells detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation(Up to 42 months)
- Positive predictive value for circulating tumor cells(Up to 42 months)
- Positive predictive value for mutated TP53 ctDNA(Up to 42 months)
- Sensitivity of circulating tumor cells detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation(Up to 42 months)
- Negative predictive value for circulating tumor cells(Up to 42 months)
- Negative predictive value for mutated TP53 ctDNA(Up to 42 months)