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
Institut Curie
11,000 participants
Jul 2, 2012
INTERVENTIONAL
Conditions
Summary
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
Inclusion Criteria10
- 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 Criteria3
- Minors
- Persons deprived of liberty or under guardianship (including curators).
- Absence of signed written inform consent
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Interventions
The saliva samples will be made of selected related (DNA).
Locations(62)
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NCT01689584