The identification of novel genetic risk loci in uveal melanoma.

1543Background: Uveal melanoma (UM) is the most common primary intraocular tumor in adult, but its etiology for the most part remains unclear. It has been suggested that the genetic susceptibility plays an important role in UM, but currently known germline mutations in BAP1 or CDKN2A, explain < 3% of UM familial risk. In general UM population the genetic risk factors are vastly unexplored. Because of previously reported association of UM and cutaneous melanoma (CM), we hypothesized that there is a shared genetic susceptibility to both phenotypes. Unlike UM, in which systematic GWAS has never been performed, the CM GWAS scans have established a portfolio of risk variants that can serve as surrogates for the discovery of novel genetic susceptibility to UM. Methods: We have tested 29 SNPs associated in previous and recent CM GWAS for their risk effect on UM. Twenty-nine SNPs were genotyped using Sequenom MassARRAY I-plex platform in 273 UM patients and 735 controls matched to cases by geographic location, ge...