Clinical trial · Interventional
Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Uveal Melanoma | Uveal Melanoma | ONTOLOGY_EXACT | 0.98 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Constitutional exome analysis | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- EXPERIMENTAL
- label
- constitutional genetic analysis
- description
- Constitutional genetic exome analysis will be performed on the blood sample. If necessary, an analysis on a second independent sample (jugal smear) will be carried out if a probably pathogenic or pathogenic variant in a hereditary cancer predisposition gene is identified.
- interventionNames
- Genetic: Constitutional exome analysis
Primary outcomes (1)
- measure
- Identify new candidate genes for hereditary cancer predisposition in patients with uveal melanoma by constitutional exome analysis
- timeFrame
- At baseline
- description
- Variants of interest are selected from the data using the following filter: * Variant with frequency \< 1% (GnomAD) * Shared by at least 2 sufferers in the cohort * Truncating (nonsense, with frame shift, on a canonical splice site -2, -1 and +1 +2) * Missense from a list of "cancer" genes and Combined Annotation Dependent Depletion (CADD) score \> 20 (COSMIC Tier1 and Tier2) Variants will be interpreted using various databases and prediction tools: * Functions: genecards, pubmed, uniprot * Expression profiles: cbioportal, GEPIA * For splice variants: CADD, Splice AI * For exonic variants: CADD, SIFT, Polyphene
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
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
References
Publications (1)
- DERIVEDGodiveau 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