Article
Vulvar Melanoma in association with germline MITF p.E318K variant.
Cancer genetics - 1 Apr 2022
Koeller Diane R, Schwartz Alison, DeSimone Mia S, Rana Huma Q, Rojas-Rudilla Vanesa, Russell-Goldman Eleanor, Laga Alvaro C, Lindeman Neal I, Garber Judy E, Ghazani Arezou A
Abstract excerpt
Vulvar melanoma is a rare and aggressive cancer with a poor prognosis. The etiology of mucosal melanoma remains largely uncharacterized and no hereditary risk factors are established for this rare disease. While the germline variant MITF p.E318K confers an increased risk for cutaneous melanoma, this variant has not been associated with risk of non-cutaneous melanoma. Herein, we describe the presence of a germline...
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