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Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanoma

Elevated levels of cell-free DNA (cfDNA) are frequently observed in tumor patients. Activating mutations in exon 4 (R183) and exon 5 (Q209) of GNAQ and GNA11 are almost exclusively found in uveal melanoma, thus providing a highly specific marker for the presence of circulating tumor DNA (ctDNA). To...

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Detalles Bibliográficos
Autores principales: Metz, Claudia HD, Scheulen, Max, Bornfeld, Norbert, Lohmann, Dietmar, Zeschnigk, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639659/
https://www.ncbi.nlm.nih.gov/pubmed/23634288
http://dx.doi.org/10.1002/cam4.61