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Presentation typeE-poster
TitleBAP1 cancer syndrome: implications for ophthalmologists
PurposeBRCA1–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.
MethodsPatient records review and general literature review
ResultsA family with germline BAP1 mutation and 3 members with uveal melanoma will be illustrated. Besides, the general advice for BAP1 positive families is reviewed.
ConclusionBAP1 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.
Conflict of interestNo
Authors 1
Last nameMISSOTTEN
InitialsG
DepartmentUniversity Hospitals Leuven, Catholic University.
CityLeuven
Authors 2
Last nameVandenbempt
InitialsI
DepartmentUniversity Hospitals Leuven, Catholic University.
CityLeuven
Authors 3
Last nameVan Calster
InitialsJ
DepartmentUniversity Hospitals Leuven, Catholic University
CityLeuven
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