title: Genes involved in melanoma: an overview of INK4a and other loci.
abstract: Melanoma is the most aggressive of the skin cancers and its prognosis is often poor. The only known environmental risk factor for this tumour is ultraviolet light exposure. This fact together with the existence of melanoma-prone families has prompted investigation of genetic risk factors that may be involved in melanoma development. Inactivation of the INK4a/p16 gene is known to play a role in familial cases. Data on genes or loci involved in sporadic melanoma are less definitive and require more detailed research. In addition to the INK4a locus, other genes involved in melanoma development are discussed here, in particular those genes that participate in the same functional pathway, such as CDK4 and Rb, and p53, which is regulated by the alternative product of INK4a. Evidence showing the possible location of melanoma susceptibility genes on chromosomes 1p, 6, 10q and 11q is analysed along with data showing N-ras, betacatenin, c-myc and MC1R involvement. Melanoma is a well-characterized disease in terms of its progression stages; therefore obtaining precise genetic information is crucial in the development of a stepwise model of melanoma pathogenesis.
authors.affiliation: Department of Experimental Oncology, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milano, Italy. castellano@istitutotumori.mi.it
authors.forename: M
authors.initials: M
authors.lastname: Castellano
authors.forename: G
authors.initials: G
authors.lastname: Parmiani
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics; D018797:Cell Cycle Proteins; D002899:Chromosomes, Human, Pair 9; D051358:Cyclin-Dependent Kinase 4; D050762:Cyclin-Dependent Kinase Inhibitor p15; D019941:Cyclin-Dependent Kinase Inhibitor p16; D018844:Cyclin-Dependent Kinases / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics; D020868:Gene Silencing; D019942:Genes, p16 / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D051379:Mice; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins; D011519:Proto-Oncogenes / Q000235:genetics; D018043:Receptors, Corticotropin / Q000235:genetics; D044101:Receptors, Melanocortin; D012878:Skin Neoplasms / Q000235:genetics*; D015534:Trans-Activators; D025803:Tumor Suppressor Protein p14ARF; D025521:Tumor Suppressor Proteins; D051176:beta Catenin
chemical_list: C493966:CDKN2B protein, human; C495270:CTNNB1 protein, human; C495267:CTNNB1 protein, mouse; D002352:Carrier Proteins; C493968:Cdkn2b protein, mouse; D018797:Cell Cycle Proteins; D050762:Cyclin-Dependent Kinase Inhibitor p15; D019941:Cyclin-Dependent Kinase Inhibitor p16; D003598:Cytoskeletal Proteins; D011506:Proteins; D011518:Proto-Oncogene Proteins; D018043:Receptors, Corticotropin; D044101:Receptors, Melanocortin; D015534:Trans-Activators; D025803:Tumor Suppressor Protein p14ARF; D025521:Tumor Suppressor Proteins; D051176:beta Catenin; C495900:CDK4 protein, human; C495902:Cdk4 protein, mouse; D051358:Cyclin-Dependent Kinase 4; D018844:Cyclin-Dependent Kinases