Uveal melanoma (see 155720) is the most common primary intraocular malignancy. Metastases arise in more than 30% of patients, usually to the liver, with a poor prognosis (median survival of 10 months) (summary by Derrien et al., 2021). Somatic monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease (summary by Tschentscher et al., 2001). Mutation in the BAP1 gene is known to confer susceptibility to this specific disease. It has been estimated that about 22% of cases of familial uveal melanoma are due to BAP1 mutations. Conversely, uveal melanoma has been reported in about 31% of BAP1 mutation carriers, making it one of the most common manifestations of TPDS1 (Rai et al., 2016; Rai et al., 2017).
For a discussion of genetic heterogeneity of susceptibility to uveal melanoma, see UVM1 (606660), caused by mutation in the MBD4 gene (603574) on chromosome 3q21. [from
OMIM]