Article
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
Pigment cell & melanoma research - 1 Mar 2013
Ghiorzo P, Pastorino L, Queirolo P, Bruno W, Tibiletti M G, Nasti S, Andreotti V, Paillerets B Bressac-de, Bianchi Scarrà G
Abstract excerpt
A French and an Australian study have recently identified a rare germline functional variant in the microphthalmia-associated transcription factor (MITF) (E318K) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer. The aim of this study was to test the prevalence...
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