Clinical trial · Interventional
COsegregation of VARiants in Panel of Genes
Study of Family COsegregation of Nucleotide VARiants in the Panel of Genes to Validate Their Use in Genetic Counseling
NCT01689584CI-TRIAL-00125170COVARrecruitingN/AClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Gene Mutation-Related Cancer | — | UNRESOLVED | — |
| Genetic Predisposition | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| salivary kit | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- OTHER
- label
- Covar
- interventionNames
- Genetic: salivary kit
Primary outcomes (1)
- measure
- Perform the co-segregation analysis of the selected VUS (class 3) or likely pathogenic variant (class 4) in the families.
- timeFrame
- up to 15 years
- description
- 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).
Secondary outcomes (3)
- measure
- Propose a standardized method to classify as many variants as possible from the national of the Genetics and Cancer Group (GGC) of Unicancer.
- timeFrame
- up to 15 years
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: Index cases: * 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" Related parties: * Any relative of an index case with cancer * Any relative without cancer related to an index case, selected by the investigators, according to family structure and degree of related compared to the index case * For class 4 and hypomorphic class 5 variants; relatives currently undergoing analysis or having already obtained a test result for the variant of interest as part of clinical care. * Age ≥ 18 years * Information and signature of the informed consent "selected relatives" Exclusion Criteria: * Minors * Persons deprived of liberty or under guardianship (including curators). * Absence of signed written inform consent
References
Publications (8)
- BACKGROUNDCaputo SM, Golmard L, Leone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bezieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valero S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupre A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fievet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Lauge A, Le Guyadec G, Le Mentec M, Lecerf C, Le Gall J, Legendre B, Legrand C, Legros A, Lejeune S, Lidereau R, Lignon N, Limacher JM, Doriane Livon, Lizard S, Longy M, Lortholary A, Macquere P, Mailliez A, Malsa S, Margot H, Mari V, Maugard C, Meira C, Menjard J, Moliere D, Moncoutier V, Moretta-Serra J, Muller E, Neviere Z, Nguyen Minh Tuan TV, Noguchi T, Nogues C, Oca F, Popovici C, Prieur F, Raad S, Rey JM, Ricou A, Salle L, Saule C, Sevenet N, Simaga F, Sobol H, Suybeng V, Tennevet I, Tenreiro H, Tinat J, Toulas C, Turbiez I, Uhrhammer N, Vande Perre P, Vaur D, Venat L, Viellard N, Villy MC, Warcoin M, Yvard A, Zattara H, Caron O, Lasset C, Remenieras A, Boutry-Kryza N, Castera L, Stoppa-Lyonnet D. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. PMID 34597585
- BACKGROUNDCaputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariame AF, Houdayer C, Moncoutier V, Andrieu C, French Covar Group Collaborators, Bieche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E. 5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints. Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.