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Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

RecruitingNAAges 18 Years - anyAllCentre Jean Perrin
NCT06550674 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Constitutional exome analysis
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Where

1 site
Centre Jean PERRIN
Clermont-Ferrand, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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