Prevalence ofMITFp.E318K in Patients With Melanoma Independent of the Presence ofCDKN2ACausative Mutations | Zendy

Míriam Potrony | Zendy; Joan Antón Puig-Butillé | Zendy; Paula Aguilera | Zendy; Célia Bádenas | Zendy; Gemma TellMartí | Zendy; Cristina Carrera | Zendy; L.J. del Pozo | Zendy; Julián ConejoMir | Zendy; Josep Malvehy | Zendy; Susana Puig | Zendy

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Prevalence ofMITFp.E318K in Patients With Melanoma Independent of the Presence ofCDKN2ACausative Mutations

Author(s) -

Míriam Potrony,

Joan Antón Puig-Butillé,

Paula Aguilera,

Célia Bádenas,

Gemma TellMartí,

Cristina Carrera,

L.J. del Pozo,

Julián ConejoMir,

Josep Malvehy,

Susana Puig

Publication year - 2015

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/jamadermatol.2015.4356

Subject(s) - medicine , cdkn2a , melanoma , microphthalmia associated transcription factor , penetrance , oncology , proband , population , cancer , cohort , cancer research , mutation , genetics , phenotype , gene , biology , environmental health , transcription factor

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.

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