STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers

NCT06861621 | Recruiting

• 2 other identifiers: 2022/310/OBIDRCB : 2023-A00488-37
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 2

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.

Conditions

Cancer

Keywords

hereditary predisposition to cancer

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

• Structuring the transcript analysis circuit

  6 months

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Consecutive people seen in oncogenetic consultations for a hereditary predisposition to breast, ovarian or digestive cancer.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Rouen: lead

Study Sites (2)

Service Oncogénétique Centre François Baclesse

Caen, 14076, France

RECRUITING

Clinique de génétique médicale Guy Fontaine de l'hopital de Flandre CHRU de Lille

Lille, 59067, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

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.

MeSH Terms

Conditions

Neoplasms

Study Officials

• Claude HOUDAYER, Professor

  Molecular Genetics Department, UH of Rouen

  PRINCIPAL INVESTIGATOR

Central Study Contacts

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 19, 2025
• First Posted: March 6, 2025
• Study Start: September 1, 2023
• Primary Completion: April 1, 2025
• Study Completion: April 1, 2025
• Last Updated: March 14, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)