Finding Hidden Genetic Causes of Eye Cancer That Run in Families
Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
In Plain English
This study is trying to solve a mystery: why does uveal melanoma (eye cancer) run in some families when doctors can't find the known genetic causes? Right now, doctors can only explain 1 in 5 cases of inherited eye cancer using the genes they know about. This research team thinks there are other genes they haven't discovered yet that make some families more likely to develop this cancer—and possibly other cancers like prostate, thyroid, or leukemia too. If you join this study, you'll help researchers find these hidden genes. Here's what happens: you'll meet with the research team to share your family's cancer history (they'll draw a family tree), and they'll collect a simple blood sample and a cheek swab. These samples will be analyzed to look for new genetic patterns. You won't get treatment from this study—it's purely research to help future families understand their risk and get better screening. This is detective work, not a treatment trial. But if researchers find new genes linked to eye cancer, it could help your family and others get earlier warning signs and more careful monitoring.
What This Trial Does
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.
Who Can Join
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
Treatments
Constitutional exome analysis (GENETIC)
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.
Trial Sites (1)
Centre Jean PERRIN
Clermont-Ferrand, Puy-de-Dôme, France
Angeline GINZAC COUVÉ
Recruiting