COsegregation of VARiants in Panel of Genes
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorInstitut Curie
About this trial
The aim of the COVAR project is to achieve reliable classification of as many variants of interest as possible from the French OncoGenetics Database (FrOG, https://frog-db.fr/) in order to use them for the genetic counseling. The results obtained through this study will have a major impact on clinical management of the patients and their families conducting in some cases to propose a prophylactic surgery.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
A person carrying a variant of interest in a gene analyzed in a diagnostic setting by one of the laboratories within the Genetics and Cancer Group (GGC)-Unicancer network, classified as class 3, 4 or hypomorphic class 5, and selected by the national expert group for the gene concerned.
Age ≥ 18 years.
Signed written inform consent "index case"
Any relative of an index case with cancer
Disqualifiers
Minors
Persons deprived of liberty or under guardianship (including curators).
Absence of signed written inform consent
Trial design
Design model
Single group
Treatments tested in this trial
salivary kit
GeneticThe saliva samples will be made of selected related (DNA).
Treatment groups
11,000 Participants
are divided into 1 treatment groupGroup A: CovarOther 1 intervention
Trial outcomes
Primary outcomes
1
Perform the co-segregation analysis of the selected VUS (class 3) or likely pathogenic variant (class 4) in the families.
Number of variants classified using methods based on likelihood ratio estimation of the selected VUS (class 3) or likely pathogenic variant (class 4) in the families in order to classify the maximum of variants in terms of their probability to be pathogenic (class 5) or (likely) benign (class 1 and 2).
Time frame
up to 15 yearsSecondary outcomes
1
Propose a standardized method to classify as many variants as possible from the national of the Genetics and Cancer Group (GGC) of Unicancer.
Provision of variant classifications to laboratories by the expert group based on the national FrOG database, along with harmonization of the conclusions regarding these variants.
Time frame
up to 15 years2
Maximize the number of VUS (class 3) or likely pathogene (class 4) having associated recommendations for clinical management of at-risk relatives that can be used to guide genetic counselling.
Number of VUS (class 3) or likely pathogene (class 4) classified to guide genetic counselling
Time frame
up to 15 years3
Assess the penetrance of selected variants of interest, particularly hypomorphic pathogenic variant (hypomorphic class 5) shared across multiple families.
Number of new hypomorphic variants and determination of their penetrance.
Time frame
up to 15 yearsSponsors and contacts
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Source ClinicalTrials.gov