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Biological insights into BRAF(V600) mutations in melanoma patient: Not mere therapeutic targets

Some experimental evidence indicates that uncommon BRAF mutations consisting in the substitution of 2 adjacent nucleotides within codon 600 are in a cis configuration and associate with BRAF gene amplification. These findings suggest that BRAF(V600) mutations are unlikely to occur as homozygous alte...

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Detalles Bibliográficos
Autores principales: Improta, Giuseppina, Pelosi, Giuseppe, Tamborini, Elena, Donia, Marco, Santinami, Mario, de Braud, Filippo, Fraggetta, Filippo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Landes Bioscience 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812198/
https://www.ncbi.nlm.nih.gov/pubmed/24179707
http://dx.doi.org/10.4161/onci.25594
Descripción
Sumario:Some experimental evidence indicates that uncommon BRAF mutations consisting in the substitution of 2 adjacent nucleotides within codon 600 are in a cis configuration and associate with BRAF gene amplification. These findings suggest that BRAF(V600) mutations are unlikely to occur as homozygous alterations in clinical melanoma samples, with gene amplification perhaps contributing to mask the heterozygous state.