RecruitingNot ApplicableNCT06550674

Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

Sponsor

Centre Jean Perrin

Enrollment

50 participants

Start Date

Oct 29, 2024

Study Type

INTERVENTIONAL

Conditions

Uveal Melanoma

Summary

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.

Eligibility

Min Age: 18 Years

Inclusion Criteria2

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 Criteria5

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

Interventions

GENETICConstitutional 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.