Identification of New Candidate Genes for Hereditary Predisposition to 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

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

Conditions2

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