NCT06550674

Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 50 (estimated)
• Sponsor: Centre Jean Perrin · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Uveal Melanoma

Interventions

Type	Name	Description
GENETIC	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.

Timeline

• Start date: 2024-10-29
• Primary completion: 2028-04-01
• Completion: 2028-04-01
• First posted: 2024-08-13
• Last updated: 2026-03-19

Locations

1 site across 1 country: France