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Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
Sponsor: Centre Jean Perrin
Summary
Only 20% of familial uveal melanomas are explained by a hereditary predisposition, implying the presence of as yet unknown hereditary predispositions. This hypothesis is reinforced by epidemiological studies revealing an excess risk of prostate cancer, thyroid cancer and leukemia in patients who have developed uveal melanoma, even though these cancers are not part of the tumor spectrum of known hereditary predispositions to uveal melanoma (BAP1, MBD4). The identification of new candidate genes, once validated, would enable us to offer these families appropriate surveillance.
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
INTERVENTIONAL
Enrollment
50
Start Date
2024-10-29
Completion Date
2028-04
Last Updated
2026-03-19
Healthy Volunteers
No
Conditions
Interventions
Constitutional exome analysis
For each patient included: * A family tree is drawn up, reporting personal and family histories of cancer. The patient's anatomopathological reports, related to his or her tumor lesions, are retrieved, in order to confirm/clarify individual or family diagnoses. * A blood sample and a jugal smear are taken to enable constitutional genetic exome analysis for research purposes.
Locations (1)
Centre Jean PERRIN
Clermont-Ferrand, Puy-de-Dôme, France