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NCT Number: NCT06550674

Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

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.

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Key information

Conditions

Uveal Melanoma Eye Diseases Eye Neoplasms Melanoma Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Nerve Tissue Neuroectodermal Tumors Neuroendocrine Tumors Nevi and Melanomas Uveal Diseases Uveal Neoplasms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Centre Jean PERRIN

Clermont-Ferrand, Puy-de-Dôme, 63011, France

Location status: Recruiting

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Primary outcomes

  1. Identify new candidate genes for hereditary cancer predisposition in patients with uveal melanoma by constitutional exome analysis

    Time frame: At baseline

    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

Secondary outcomes

  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

    Number of patients with a mutation on BRCA1, BRCA2, CHEK2, PALB2, POT1, MSH6 or MLH1

Interested in participating?

Recruiting

Interested in participating?

Request Info

Sponsors and collaborators

Lead sponsor

Centre Jean Perrin

Other

Collaborators

  • Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)

Registry information

Acronym: IGCMU

Important dates

Study start
2024
Primary completion
2028
Study completion
2028
First posted
Aug 13, 2024
Registry last updated
Mar 19, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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