Hereditary predisposition to uveal melanoma
2020
Abstract Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. Known risk factors for the risk of UM development include white race, blue/green iris eye color, older age, and some environmental risk, in particular arc welding. UM represent 3%–5% of all melanomas but it is biologically and genetically different from cutaneous melanoma. Based on the rarity of familial UM (about 1%), characterized by more than one individual with UM in the family, the contribution of genetics to the etiology of UM has been considered minimal in the traditional ophthalmology literature. However, multiple lines of evidence suggest that genetics contribute much more to the etiology of UM tumor predisposition. In the following chapter, we summarize the evidence of a genetic contribution to UM predisposition and discuss current genes suspected to be associated with the disease.
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