Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients

• Published in: Journal of translational medicine Vol. 18; no. 1; p. 78
• Main Authors: Ciccarese, Giulia, Dalmasso, Bruna, Bruno, William, Queirolo, Paola, Pastorino, Lorenza, Andreotti, Virginia, Spagnolo, Francesco, Tanda, Enrica, Ponti, Giovanni, Massone, Cesare, Drago, Francesco, Parodi, Aurora, Ghigliotti, Giovanni, Pizzichetta, Maria Antonietta, Ghiorzo, Paola
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 13.02.2020; BioMed Central; BMC
• Subjects: Cancer; Cancer prevention; Carcinoma; Cell cycle; Cutaneous melanoma; Cyclin-dependent kinase 4; Cyclin-dependent kinases; Deoxyribonucleic acid; Diagnosis; Disease susceptibility; DNA; Dysplastic nevi; E318K; Family medical history; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetic screening; Genetic testing; Genotype & phenotype; Health aspects; Humans; Hypoxia; Identification and classification; Kidney cancer; Medical research; Melanocyte Inducing Transcription Factor; Melanocytes; Melanoma; Melanoma - genetics; Microphthalmia-associated transcription factor; Microphthalmia-Associated Transcription Factor - genetics; Nevi; Phenotype; Phenotypes; Renal cell carcinoma; Retrospective Studies; Skin cancer; Skin Neoplasms - genetics; Transcription (Genetics); Transcription factors; Italy; Cancer genetics; Germline variant; Dysplastic nevi; E318K; Melanocyte Inducing Transcription Factor; Cutaneous melanoma; Renal cell carcinoma; Susceptibility; Dermoscopy; Nevi

The p.E318K variant of the Melanocyte Inducing Transcription Factor (MITF) has been implicated in genetic predisposition to melanoma as an intermediate penetrance allele. However, the impact of this variant on clinico-phenotypic, as well as on dermoscopic patterns features of affected patients is no...