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Type presentatieE-poster
TitelBAP1 cancer syndrome: implications for ophthalmologists
DoelBRCA1–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.
MethodesPatient records review and general literature review
ResultatenA family with germline BAP1 mutation and 3 members with uveal melanoma will be illustrated. Besides, the general advice for BAP1 positive families is reviewed.
ConclusieBAP1 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.
BelangenverstrengelingNee
Auteur 1
NaamMISSOTTEN
InitialenG
InstituutUniversity Hospitals Leuven, Catholic University.
StadLeuven
Auteur 2
NaamVandenbempt
InitialenI
InstituutUniversity Hospitals Leuven, Catholic University.
StadLeuven
Auteur 3
NaamVan Calster
InitialenJ
InstituutUniversity Hospitals Leuven, Catholic University
StadLeuven
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