Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

NA

Total Enrollment

50 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-10-29

Study Completion Date

2027-10-31

Brief Summary

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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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Detailed Description

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Conditions

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Uveal Melanoma

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

PREVENTION

Blinding Strategy

NONE

Study Groups

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constitutional genetic analysis

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.

Group Type EXPERIMENTAL

Constitutional exome analysis

Intervention Type 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.

Interventions

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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.

Intervention Type GENETIC

Eligibility Criteria

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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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No