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| ID | Type | Description | Link |
|---|---|---|---|
| IDRCB : 2023-A00488-37 | Other Identifier | ANSM |
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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Relevance of a joint systematic DNA/RNA study | 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). | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Structuring the transcript analysis circuit | 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 | 6 months |
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Inclusion Criteria:
Exclusion Criteria:
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Consecutive people seen in oncogenetic consultations for a hereditary predisposition to breast, ovarian or digestive cancer.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| David MALLET, Director | Contact | +33 2 32 88 82 65 | Secretariat.DRC@chu-rouen.fr | |
| Vincent FERRANTI, Arc | Contact | +33 2 32 88 82 65 | vincent.ferranti@chu-rouen.fr |
| Name | Affiliation | Role |
|---|---|---|
| Claude HOUDAYER, Professor | Molecular Genetics Department, UH of Rouen | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service Oncogénétique Centre François Baclesse | Recruiting | Caen | 14076 | France |
The data provided will be the property of the sponsor and will be used solely for its own research activities.
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| ID | Term |
|---|---|
| D009369 | Neoplasms |
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An analysis of the predisposition genes will be carried out on the patients' DNA as part of the treatment after informed consent has been obtained. If patients do not object to taking part in the STRATEGIC study, an additional blood sample (PAXEGENE tube for RNA) will be taken during the blood test as part of the treatment. The major predisposing genes, breast/ovarian and digestive, will then be studied using both DNA and RNA. The results will be analysed centrally and used to evaluate this new diagnostic strategy.
| Clinique de génétique médicale Guy Fontaine de l'hopital de Flandre CHRU de Lille | Recruiting | Lille | 59067 | France |
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