Cancer
Conditions
Keywords
hereditary predisposition to cancer
Brief 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.
Interventions
None listed
Sponsors
University Hospital, Rouen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Relevance of a joint systematic DNA/RNA study | 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). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Structuring the transcript analysis circuit | 6 months | Structuring the transcript analysis circuit to ensure that results are compatible with the clinical management of patients. The study is designed to compare the mutational yield between the current strategy and that proposed by the study |
Countries
France
Contacts
Primary ContactDavid MALLET, Director
Backup ContactVincent FERRANTI, Arc
Outcome results
None listed