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Article

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

JAMA dermatology - 1 Apr 2016

Potrony Miriam, Puig-Butille Joan Anton, Aguilera Paula, Badenas Celia, Tell-Marti Gemma, Carrera Cristina, Javier Del Pozo Luis, Conejo-Mir Julian, Malvehy Josep, Puig Susana

Abstract excerpt

IMPORTANCE: The main high-penetrance melanoma susceptibility gene is CDKN2A, encoding p16INK4A and p14ARF. The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma. To date, the prevalence of MITF p.E318K and its clinical and phenotypical implications has not been previously assessed in a single cohort of Spanish patients with melanoma or in p16INK4A mutation carriers. OBJECTIVES: To...

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Source

Identifiers

PMID: 26650189
DOI: 10.1001/jamadermatol.2015.4356

Genes

MITF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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