title: A germline oncogenic MITF mutation and tumor susceptibility.
abstract: MITF (Microphthalmia-associated transcription factor) is a lineage specific transcription factor that plays a critical role in melanocyte homeostasis and whose deregulation has been shown to contribute to melanoma disease. A germline mutation in MITF, impairing SUMOylation and predisposing to cutaneous malignant melanoma, was recently identified. Interestingly, an association of the MITF mutation with coexisting melanoma and renal cell carcinoma was also shown. Collectively, these data suggest that MITF has an important oncogenic function in tumorigenesis of multiple tissues/melanocytes and kidney cells.
authors.affiliation: INSERM, U946, Genetic Variation and Human Diseases Unit, Paris, France; Service de Génétique, Institut de Cancérologie Gustave Roussy, 94805 Villejuif, France.
authors.forename: Brigitte Bressac-de
authors.initials: BB
authors.lastname: Paillerets
authors.affiliation: Inserm, U900, Institut Curie, Mines ParisTech, 75248 Paris cedex 05, France.
authors.forename: Fabienne
authors.initials: F
authors.lastname: Lesueur
authors.affiliation: INSERM, U1065 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M, 06204 Nice, France; University of Nice Sophia-Antipolis, UFR Médecine, 06204 Nice, France. Electronic address: bertolot@unice.fr.
authors.forename: Corine
authors.initials: C
authors.lastname: Bertolotto
mesh_terms: D063646:Carcinogenesis / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000150:complications / Q000235:genetics / Q000473:pathology; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology; D008545:Melanoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D058207:Sumoylation; D000096142:Cutaneous Malignant Melanoma
chemical_list: D051739:Microphthalmia-Associated Transcription Factor
keywords: MITF; Melanoma; Mutation