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BRAF mutation analysis in circulating free tumor DNA of melanoma patients treated with BRAF inhibitors.

Melanoma Res

December 2015

aTranslational Cancer Research Unit, Instituto Oncológico Dr Rosell, Quirón Dexeus University Hospital bPangaea Biotech S.L cHospital Vall d'Hebron dCatalan Institute of Oncology, Hospital Germans Trias i Pujol Badalona eMORe Foundation, Barcelona fHospital Central Asturias, Oviedo gPivotal SL, Madrid hCUN, Pamplona, Spain.

BRAFV600E is a unique molecular marker for metastatic melanoma, being the most frequent somatic point mutation in this malignancy. Detection of BRAFV600E in blood could have prognostic and predictive value and could be useful for monitoring response to BRAF-targeted therapy. We developed a rapid, sensitive method for the detection and quantification of BRAFV600E in circulating free DNA (cfDNA) isolated from plasma and serum on the basis of a quantitative 5'-nuclease PCR (Taqman) in the presence of a peptide-nucleic acid.

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