منابع مشابه
Lack of BRAF mutations in uveal melanoma.
RAF proteins are serine/threonine kinases that mediate cellular responses to growth signals by activating the mitogen-activated protein kinase pathway. Mutations in the BRAF gene causing a V599E amino acid substitution that enhance the kinase activity have been described in >60% of cutaneous melanomas and premalignant melanocytic lesions. We have investigated the frequency of BRAF mutations at ...
متن کاملLack of SF3B1 R625 mutations in cutaneous melanoma
BACKGROUND Melanoma is a deadly disease affecting people worldwide. Genetic studies have identified different melanoma subtypes characterized by specific recurrently mutated genes and led to the successful clinical introduction of targeted therapies. Hotspot mutations in SF3B1 were recently reported in uveal melanoma. Our aim was to see if these mutations also occur in cutaneous melanoma. FIN...
متن کاملLack of inherited mutations of PTPRD in familial melanoma and melanoma-astrocytoma syndrome.
Department of Oncology, Lombardi Cancer Center, Georgetown University School of Medicine, Washington, DC, USA Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA Correspondence T. Waldman, e-mail: waldmant@george...
متن کاملLack of oncogenic GNAQ mutations in melanocytic lesions of the conjunctiva as compared to uveal melanoma.
PURPOSE Somatic mutations in codon 209 of the GNAQ gene are the first initiating events to be identified in uveal melanoma. The purpose of this study was to search for GNAQ209 mutations in conjunctival melanocytic lesions. METHODS Forty archival samples of conjunctival melanocytic lesions (conjunctival nevi, primary acquired melanosis, and conjunctival melanoma), 27 samples of uveal melanoma,...
متن کاملLack of GNAQ and GNA11 Germ-Line Mutations in Familial Melanoma Pedigrees with Uveal Melanoma or Blue Nevi
Approximately 10% of melanoma cases are familial, but only 25-40% of familial melanoma cases can be attributed to germ-line mutations in the CDKN2A - the most significant high-risk melanoma susceptibility locus identified to date. The pathogenic mutation(s) in most of the remaining familial melanoma pedigrees have not yet been identified. The most common mutations in nevi and sporadic melanoma ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2002
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.2002.18181.x