Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorCentre Jean Perrin

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

50 Participants
are divided into 1 treatment group

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