Detection of Germline and Somatic Pathogenic Variants in Patients With de Novo Metastatic Breast Cancer
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 101
- 试验地点
- 1
- 主要终点
- Number of participants with germline pathogenic variants in denovo metastatic breast cancer
研究概览
简要总结
To determine somatic and germline pathogenic variants in patients with denovo metastatic breast cancer in order to map the molecular/genetic characteristics of DN- MBC aiming in comprehending the biology and highlighting potential novel treatment options for the disease.
详细描述
The value of this study is based on the fact that DN-MBC is rare, seems to be different from early and relapsed breast cancer and has not been studied as distinct disease. To achieve the objective of this study blood and tissue sample from patients diagnosed with DN-MBC will be further analyzed using next generation sequencing (NGS), in order to map the molecular/genetic characteristics of DN-MBC and to detect germline and somatic pathogenic variants. All the results will be associated with the clinicopathological characteristics of the patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Signed informed consent for the provision of the biological material for research purposes
- •Diagnosis of de novo MBC (histologically confirmed)
- •Age >18 years
- •Blood samples
- •Tumor tissue block from at least on disease site, primary (preferably) or metastatic
排除标准
- •Inadequate MBC tissue
结局指标
主要结局
Number of participants with germline pathogenic variants in denovo metastatic breast cancer
时间窗: up to 12 months
Number of participants with somatic pathogenic variants in denovo metastatic breast cancer
时间窗: up to 12 months
次要结局
- Collection of clinicopathological characteristics of the included patients from patient's medical file(up to 12 months)
- Definition of the germline pathogenic variants measured with Next Generation Sequencing(up to 12 months)
- Definition of the somatic pathogenic variants measured with Next Generation Sequencing(up to 12 months)