title: Genetic mutations involved in melanoma: a summary of our current understanding.
abstract: The biomolecular understanding of melanoma is in flux. The importance of high-penetrance genes involved in familial melanoma includes a significant number of mutations that directly lead to impairment of the checkpoints of the normal cell cycle. Furthermore, a greater understanding of the interaction between genetic factors and environmental factors, such as MC1R, CDKN2A, BRAF, and ultraviolet light, is emerging from landmark research. Although currently and with rare exception most clinicians still confine genetic testing to the realm of research, even in familial melanoma, continued and major advances in this arena may lead to development of new and revolutionary means of diagnosis and treatment, patterned on improved understanding of melanoma-related genetic mutations and resultant aberrations in cellular pathways.
authors.affiliation: Department of Dermatology and Pathology, University of Colorado Health Sciences Center, P.O. Box 6510, Mail Stop F703, Aurora, CO 80045, USA. whitney.high@uchsc.edu
authors.forename: Whitney A
authors.initials: WA
authors.lastname: High
authors.forename: William A
authors.initials: WA
authors.lastname: Robinson
mesh_terms: D000818:Animals; D018797:Cell Cycle Proteins / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D051059:PTEN Phosphohydrolase / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D051739:Microphthalmia-Associated Transcription Factor; D044102:Receptor, Melanocortin, Type 1; D048493:Proto-Oncogene Proteins B-raf; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human