Article
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Pigment cell & melanoma research - 1 Jan 2025
Johansson Peter A, Palmer Jane M, McGrath Lindsay, Warrier Sunil, Hamilton Hayley R, Beckman Timothy, D'Mellow Matthew G, Brooks Kelly M, Glasson William, Hayward Nicholas K, Pritchard Antonia L
Abstract excerpt
Uveal melanoma (UM) and nonacral cutaneous melanoma (CM) are distinct entities with varied genetic landscapes despite both arising from melanocytes. There are, however, similarities in that they most frequently affect people of European ancestry, and high penetrance germline variants in BAP1, POT1 and CDKN2A have been shown to predispose to both UM and CM. This study aims to further explore germline variants in...
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