Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
Status: Recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Not Applicable
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:
• Patient with a personal history of uveal melanoma (newly diagnosed, under treatment or in follow-up)
• Enrolled in or benefiting from a social security scheme
Locations
Other Locations
France
Centre Jean PERRIN
RECRUITING
Clermont-ferrand
Contact Information
Primary
Angeline GINZAC COUVÉ
angeline.ginzac@clermont.unicancer.fr
0473278005
Time Frame
Start Date: 2024-10-29
Estimated Completion Date: 2026-04
Participants
Target number of participants: 50
Treatments
Experimental: constitutional genetic analysis
Constitutional genetic exome analysis will be performed on the blood sample. If necessary, an analysis on a second independent sample (jugal smear) will be carried out if a probably pathogenic or pathogenic variant in a hereditary cancer predisposition gene is identified.
Related Therapeutic Areas
Sponsors
Leads: Centre Jean Perrin
Collaborators: Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)