RecruitingNot ApplicableNCT06550674

Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

Sponsor

Centre Jean Perrin

Enrollment

50 participants

Start Date

Oct 29, 2024

Study Type

INTERVENTIONAL

Conditions

Uveal Melanoma

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

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This genetic research study is looking for new genes that may cause hereditary predisposition to uveal melanoma — a rare type of eye cancer that develops in the uvea (the colored part of the eye). Known genes like BAP1 already explain some hereditary cases, but many remain unexplained. This study collects genetic material from affected patients to identify new candidate genes. **You may be eligible if...** - You have been personally diagnosed with uveal melanoma (new diagnosis, currently in treatment, or in follow-up) - You are enrolled in or covered by France's social security system **You may NOT be eligible if...** - A known pathogenic mutation in BAP1 or MBD4 has already been identified as the cause - You do not consent to genetic testing for both diagnostic and research purposes - You are pregnant or breastfeeding - You are under legal guardianship that prevents consent Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

GENETICConstitutional 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.