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Type de présentation	E-poster
Titre	BAP1 cancer syndrome: implications for ophthalmologists

But	BRCA1–associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21. Germline BAP1 mutations have been recently associated with an increased risk of malignant mesothelioma, atypical skin and uveal melanocytic tumors and other neoplasms. In this abstract we illustrate a family with BAP1 cancer syndrome, and the screening for patients with BAP1 germline mutations.
Méthodes	Patient records review and general literature review
Résultats	A family with germline BAP1 mutation and 3 members with uveal melanoma will be illustrated. Besides, the general advice for BAP1 positive families is reviewed.
Conclusion	BAP1 germline gene mutations should be examined in all uveal melanoma patients < 40 years, associations with mesotheliomas and skin tumors. Also in patients with a positive family on melanomas.
Conflit d'intérêt	Non

Auteur 1

Nom	MISSOTTEN
Initiales	G
Institut	University Hospitals Leuven, Catholic University.
Ville	Leuven

Auteur 2

Nom	Vandenbempt
Initiales	I
Institut	University Hospitals Leuven, Catholic University.
Ville	Leuven

Auteur 3

Nom	Van Calster
Initiales	J
Institut	University Hospitals Leuven, Catholic University
Ville	Leuven