Looks for new inherited genes linked to eye melanoma
Genetic testing of whole exomes in families with uveal melanoma.
Plain-language title generated from the registry record
Registry title: Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
Key facts
- Where
- Clermont-Ferrand, FranceSee the site
Where in France
- Centre Jean PerrinClermont-Ferrand, FranceTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Centre Jean Perrin
- Trial code
- NCT06550674
- Record updated
- 19 March 2026
- Original description
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.Read full original descriptionShow less
Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
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.
Inclusion: 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: 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.