STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers in Normandy and Hauts De France
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,000
- 试验地点
- 2
- 主要终点
- Relevance of a joint systematic DNA/RNA study
研究概览
简要总结
Molecular diagnosis using high throughput sequencing has become an essential part of oncogenetic care, making it possible to identify people at risk, to guide surveillance, and to direct preventive surgery and treatment. The quality of this 'precision' care depends on the quality of the interpretation of the genomic variants identified. To be usable in oncogenetics, a genomic variant must be correctly interpreted: pathogenic, benign or of uncertain significance (VSI). The impact of these DNA variants (VSI) on RNA is particularly important for interpretation. Today, due to a lack of resources, joint and systematic DNA/RNA analysis is never carried out. This has inevitably meant that a number of situations of interest have been overlooked. It is now important to go a step further and organise a visible and reliable circuit, allowing routine access to these studies for patients.
详细描述
Systematic DNA/RNA analysis is never carried out using the current approach, due to a lack of resources. Strategies recommend pre-screening variants using in silico analysis, followed by RNA studies targeting variants of interest.
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
- All
- 接受健康志愿者
- 否
入选标准
- •Over 18 years of age
- •Patients seen in oncogenetic consultations and who have given their informed consent for genetic analysis in the context of a major predisposition to breast, ovarian or digestive cancer.
- •Person who has read and understood the information note and does not object to taking part in the study
- •Membership of a social security scheme
排除标准
- •Persons deprived of their liberty or adults under guardianship or incapable of giving their consent
- •Failure to obtain informed consent
结局指标
主要结局
Relevance of a joint systematic DNA/RNA study
时间窗: Baseline
The main objective is to assess the relevance of a joint, systematic DNA/RNA study when managing patients in oncogenetic consultations, without any pre-requisites based on personal or family history criteria or on in silico predictions of a DNA variant. The study compares the diagnostic yield (Diagnostic yield corresponds to the rate of patients with a positive molecular diagnosis, confirming a hereditary predisposition to cancer, as a proportion of all patients analysed) obtained using the current approach (DNA alone, then possible use of RNA analyses in rare cases) and that obtained in this study (DNA and RNA systematically).
次要结局
- Structuring the transcript analysis circuit(6 months)