The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma | Zendy

Luis Jaime CastroVega | Zendy; Soto Romuald Kiando | Zendy; Nelly Burnichon | Zendy; Alexandre Buffet | Zendy; Laurence Amar | Zendy; Christophe Simian | Zendy; A. Berdelou | Zendy; Pilar Galán | Zendy; Martin Schlumberger | Zendy; Nabila BouatiaNaji | Zendy; Judith Favier | Zendy; Brigitte Bressac–de Paillerets | Zendy; AnnePaule GimenezRoqueplo | Zendy

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The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma

Author(s) -

Luis Jaime CastroVega,

Soto Romuald Kiando,

Nelly Burnichon,

Alexandre Buffet,

Laurence Amar,

Christophe Simian,

A. Berdelou,

Pilar Galán,

Martin Schlumberger,

Nabila BouatiaNaji,

Judith Favier,

Brigitte Bressac–de Paillerets,

AnnePaule GimenezRoqueplo

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-2103

Subject(s) - microphthalmia associated transcription factor , neural crest , odds ratio , cohort , allele , risk factor , oncology , medicine , paraganglioma , genotype , population , biology , genetics , cancer research , endocrinology , pathology , transcription factor , gene , environmental health

The microphthalmia-associated transcription factor (MITF) regulates the survival, proliferation, and differentiation of neural crest-derived lineages. Recent studies reported an increased risk of melanoma in individuals carrying the rare variant MITF, p.E318K (rs149617956). Whether this variant plays a role in other neural crest-derived tumors is unknown.

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