STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers

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.

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Key information

Conditions

Cancer Neoplasms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Service Oncogénétique Centre François Baclesse, Caen, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Relevance of a joint systematic DNA/RNA study

Time frame: 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 outcomes

Structuring the transcript analysis circuit

Time frame: 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

Study contacts

Contact information is provided by the study sponsor or research team.

David MALLET, Director

CONTACT

[email protected]

+33 2 32 88 82 65

Vincent FERRANTI, Arc

CONTACT

[email protected]

+33 2 32 88 82 65

Sponsors and collaborators

Lead sponsor

University Hospital, Rouen

Other

Registry information

Official study title

STRucturation of Transcript Analysis of Genes Involved in Hereditary Cancers in Normandy and Hauts de France

Acronym: STRATEGIC

Important dates

Study start: 2023
Primary completion: 2025
Study completion: 2025
First posted: Mar 6, 2025
Registry last updated: Mar 14, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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