Germline variants in cancer predisposition genes in patients with uveal melanoma

Purpose: Patients with uveal melanoma (UM) have an increased risk of other primary tumours; up to 12% of patients belong to families with other cancers.[1] ~2% of unselected patients and 25% of patients with a family history of UM harbour a pathogenic germline variant in the BAP1 gene.[2] Additionally, 12 other genes might contribute to UM susceptibility [3] whereas 75% of patients with familial UM remain without a genetic explanation for UM susceptibility. Methods: We sequenced 312 consecutively enrolled patients with UM for germline variants in 15 genes driving UM tumorigenesis or having a BAP1 association using next‐generation sequencing. Additional 191 cancer‐associated genes were analysed from 108 high‐risk patients who had another cancer, UM at