About this trial
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 criteria
Qualifiers
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
Disqualifiers
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
Trial design
Treatments tested in this trial
- Constitutional exome analysis
Treatment groups
Sponsors and collaborators
Centre Jean Perrin
Lead sponsor
Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)
Collaborator