Article
Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2022
Yang Muyi, Johnsson Per, Bräutigam Lars, Yang Xiaohong R, Thrane Kim, Gao Jiwei, Tobin Nicholas P, Zhou Yitian, Yu Rong, Nagy Noemi, Engström Pär G, Tuominen Rainer, Eriksson Hanna, Lundeberg Joakim, Tucker Margaret A, Goldstein Alisa M, Egyhazi-Brage Suzanne, Zhao Jian, Cao Yihai, Höiom Veronica
Abstract excerpt
PURPOSE: More than half of the familial cutaneous melanomas have unknown genetic predisposition. This study aims at characterizing a novel melanoma susceptibility gene. METHODS: We performed exome and targeted sequencing in melanoma-prone families without any known melanoma susceptibility genes. We analyzed the expression of candidate gene DENND5A in melanoma samples in relation to pigmentation and UV signature....
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