Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma (IGCMU)

Centre Jean Perrin

Status: Active, not recruiting

Conditions: Uveal Melanoma

Treatments: Genetic: Constitutional exome analysis

Study type: Interventional

Funder types: Other

Identifiers

NCT06550674

2024-A00030-47

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Prevention

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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50 participants in 1 patient group

constitutional genetic analysis

Experimental group

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.

Treatment:

Genetic: Constitutional exome analysis