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 BRAFV600 mutations are unlikely to occur as homozygous alterations in clinical melanoma samples, with gene amplification perhaps contributing to mask the heterozygous state.
Biological insights into BRAF(V600) mutations in melanoma patient: Not mere therapeutic targets / G. Improta, G. Pelosi, E. Tamborini, M. Donia, M. Santinami, F. de Braud, F. Fraggetta. - In: ONCOIMMUNOLOGY. - ISSN 2162-4011. - 2:8(2013 Aug 01), p. e25594.e25594. [10.4161/onci.25594]
Biological insights into BRAF(V600) mutations in melanoma patient: Not mere therapeutic targets
G. PelosiSecondo
;F. de Braud;
2013
Abstract
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 BRAFV600 mutations are unlikely to occur as homozygous alterations in clinical melanoma samples, with gene amplification perhaps contributing to mask the heterozygous state.
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