NCT06861621

STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers

STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers in Normandy and Hauts de France

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: University Hospital, Rouen · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Detailed description

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.

Conditions

• Cancer

Timeline

• Start date: 2023-09-01
• Primary completion: 2025-04-01
• Completion: 2025-04-01
• First posted: 2025-03-06
• Last updated: 2025-03-14

Locations

2 sites across 1 country: France