STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Cancer. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers in Normandy and Hauts de France
Overview
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.
Primary outcome measures
- Relevance of a joint systematic DNA/RNA study [Time frame: Baseline]
Secondary outcome measures (1)
- Structuring the transcript analysis circuit [Time frame: 6 months]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 2 centers
- Service Oncogénétique Centre François Baclesse — Caen
- Clinique de génétique médicale Guy Fontaine de l'hopital de Flandre CHRU de Lille — Lille
Identifiers
NCT: NCT06861621 · 2022/310/OB · IDRCB : 2023-A00488-37