CDKN2A as a uveal and cutaneous melanoma susceptibility gene

Abstract

A few families have been described whose members are affected by either cutaneous melanoma (CM) or uveal melanoma (UM), suggesting that a common susceptibility could exist. Although CDKN2A is the main CM predisposing gene, thus far no germline CDKN2A mutations have been described in families with both CM and UM. We report a Gly67Ser missense CDKN2A germline mutation in a melanoma-prone family, where one carrier was affected by UM and the other by a CM. Immunohistochemistry performed on the UM tissue block revealed loss of CDKN2A protein staining in tumor cells. These observations demonstrate that CDKN2A is also a UM susceptibility gene.