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Article

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

Journal of translational medicine - 13 Feb 2020

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

Abstract excerpt

BACKGROUND: 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 not entirely defined. The purpose of our study was to assess the association between the p.E318K germline...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32054529
DOI: 10.1186/s12967-020-02253-8
PMCID: PMC7017513

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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