Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Constitutional exome analysis.
- Who it may be relevant to
- Registry conditions: Uveal Melanoma. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- Genetic Constitutional exome analysis
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.
Primary outcome measures
- Identify new candidate genes for hereditary cancer predisposition in patients with uveal melanoma by constitutional exome analysis [Time frame: At baseline]
Secondary outcome measures (1)
- Explore genes known to be involved in other cancer predisposition already described in the occurrence of uveal melanoma, but whose association has not yet been established with certainty. [Time frame: At baseline]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Prevention
Study locations
France · 1 center
- Centre Jean PERRIN — Clermont-Ferrand
Publications
- Godiveau M, Ginzac A, Bidet Y, Ponelle-Chachuat F, Privat M, Durando X, Cavaille M, Lepage M. Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial. Front Oncol. 2025 Jan 24;15:1538924. doi: 10.3389/fonc.2025.1538924. eCollection 2025. PMID 39926282
Identifiers
NCT: NCT06550674 · 2024-A00030-47