title: Genetic landscape of uveal melanoma.
abstract: Uveal melanoma is genetically one of the simplest malignant tumors in adults. Initiation of these tumors is dependent of an oncogenic mutation in the GNAQ or GNA11 genes present in almost all cases. The nature of second mutational events is of major interest as it monosomy 3, gain of 8q and BAP1 inactivation are associated with unfavorable prognosis while SF3BI or EIF1AX are of good prognosis. Despite their common lineage, cutaneous and uveal melanomas are distinct diseases, implicating different oncogenic pathways and contrasting mutational landscapes. Even if uveal melanoma is a simple tumor, it is also one of the deadliest tumors in adults. There is a major clinical need for drugs targeting either the downstream pathways of Gαq and Gα11 or the biological cell functions dysregulated by BAP1 loss of function.
authors.affiliation: Institut Curie, centre de recherche, Inserm U830, 26, rue d'Ulm, 75248 Paris cedex 05, France. Electronic address: marc-henri.stern@curie.fr.
authors.forename: M J
authors.initials: MJ
authors.lastname: Rodrigues
authors.affiliation: Institut Curie, centre de recherche, Inserm U830, 26, rue d'Ulm, 75248 Paris cedex 05, France.
authors.forename: M-H
authors.initials: MH
authors.lastname: Stern
mesh_terms: D000328:Adult; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004252:DNA Mutational Analysis; D015977:Eukaryotic Initiation Factor-1 / Q000235:genetics; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics; D043802:GTP-Binding Protein alpha Subunits, Gq-G11 / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008545:Melanoma / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D010750:Phosphoproteins / Q000235:genetics; D011379:Prognosis; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics; D012307:Risk Factors; D012878:Skin Neoplasms / Q000235:genetics; D015996:Survival Rate; D025521:Tumor Suppressor Proteins / Q000235:genetics; D043222:Ubiquitin Thiolesterase / Q000235:genetics; D014604:Uveal Neoplasms / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D000098943:Uveal Melanoma
chemical_list: C400134:BAP1 protein, human; D015977:Eukaryotic Initiation Factor-1; C554062:GNA11 protein, human; D044385:GTP-Binding Protein alpha Subunits; D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human; D025521:Tumor Suppressor Proteins; C026022:eukaryotic peptide initiation factor-1A; D043222:Ubiquitin Thiolesterase; D043802:GTP-Binding Protein alpha Subunits, Gq-G11
keywords: BAP; EIF1AX; GNA11; GNAQ; Genetics; Genomics; Génomique; La génétique; Mélanome de l’uvée; SF3B1; Uveal melanoma