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Appl Clin Genet. 2016 Sep 6;9:147-55. doi: 10.2147/TACG.S69210. eCollection 2016.

The genetics of uveal melanoma: current insights.

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Department of Oncology and Pathology, Karolinska institutet; Department of Oncology, Karolinska University Hospital, Stockholm, Sweden.
Department of Oncology and Pathology, Karolinska institutet.


Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting ~7,000 individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and molecular features as compared to other melanoma subtypes. UMs lack the most typical cutaneous melanoma-associated mutations (BRAF, NRAS, and NF1) and are instead characterized by a different set of genes with oncogenic or loss-of-function mutations. By next-generation sequencing efforts on UM tumors, several driver genes have been detected. The most frequent ones are BAP1, EIF1AX, GNA11, GNAQ, and SF3B1. In many cases, mutations in these genes appear in a mutually exclusive manner, have different risk of metastasis, and are consequently of prognostic importance. The majority of UM cases are sporadic but a few percentage of the cases occurs in families with an inherited predisposition for this malignancy. In recent years, germline mutations in the BAP1 gene have been found to segregate in an autosomal dominant pattern with numerous different cancer types including UM in cancer-prone families. This cancer syndrome has been denoted as the tumor predisposition syndrome.


driver genes; familial cancer; oncogenes; tumor suppressor genes; uveal melanoma

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