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

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.

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.

Inclusion Criteria:

• 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

Exclusion Criteria:

• Minors
• Persons deprived of their liberty or adults under guardianship or incapable of giving their consent
• Failure to obtain informed consent