title: Melanoma: clinical features and genomic insights.
abstract: Recent efforts in genomic research have enabled the characterization of molecular mechanisms underlying many types of cancers, ushering novel approaches for diagnosis and therapeutics. Melanoma is a molecularly heterogeneous disease, as many genetic alterations have been identified and the clinical features can vary. Although discoveries of frequent mutations including BRAF have already made clinically significant impact on patient care, there is a growing body of literature suggesting a role for additional mutations, driver and passenger types, in disease pathophysiology. Although some mutations have been strongly associated with clinical phenotypes of melanomas (such as physical distribution or morphologic subtype), the function or implications of many of the recently identified mutations remains less clear. The phenotypic and clinical impact of genomic mutations in melanoma remains a promising opportunity for progress in the care of melanoma patients.
authors.affiliation: Dermatology Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115 Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114.
authors.forename: Elena B
authors.initials: EB
authors.lastname: Hawryluk
authors.affiliation: Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114.
authors.forename: Hensin
authors.initials: H
authors.lastname: Tsao
mesh_terms: D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D023281:Genomics / Q000379:methods*; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm