STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers
NCT06861621 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000
Last updated 2025-03-14
Summary
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.
Conditions
Sponsors & Collaborators
-
University Hospital, Rouen
lead OTHER
Principal Investigators
-
Claude HOUDAYER, Professor · Molecular Genetics Department, UH of Rouen
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2023-09-01
- Primary Completion
- 2025-04-01
- Completion
- 2025-04-01
Countries
- France
Study Locations
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