Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

Launched by CENTRE JEAN PERRIN · Aug 8, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on finding new genetic causes of uveal melanoma, a type of eye cancer. Currently, only 20% of families with a history of this cancer can trace it back to known inherited genes. Researchers believe there may be other genetic factors that haven’t been identified yet, especially since patients with uveal melanoma seem to have a higher risk of developing other cancers like prostate, thyroid, and leukemia. By discovering these new genes, the goal is to help families better monitor their health and catch any potential issues early.

To participate in this trial, you need to have a personal history of uveal melanoma, whether you're newly diagnosed, currently being treated, or in follow-up care. You also need to be part of a social security scheme. However, if you’ve already been found to have specific genetic changes in known genes (BAP1 or MBD4), or if you're pregnant or breastfeeding, you won’t be eligible. If you join, you'll undergo genetic testing to help researchers understand more about your condition and potentially help others in the future. Your participation could be vital in identifying new genetic markers for this cancer.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 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
• Exclusion Criteria:
• • Causal pathogenic variation identified in BAP1 or MBD4
• • Patient does not consent to constitutional genetic analysis for diagnostic purposes
• • Patient not consenting to a constitutional genetic analysis for research purposes
• • Pregnant and breast-feeding women
• • Patients under guardianship or trusteeship