title: Fast Diagnostics of BRAF Mutations in Biopsies from Malignant Melanoma.
abstract: According to the American skin cancer foundation, there are more new cases of skin cancer than the combined incidence of cancers of the breast, prostate, lung, and colon each year, and malignant melanoma represents its deadliest form. About 50% of all cases are characterized by a particular mutation BRAF(V600E) in the BRAF (Rapid Acceleration of Fibrosarcoma gene B) gene. Recently developed highly specific drugs are able to fight BRAF(V600E) mutated tumors but require diagnostic tools for fast and reliable mutation detection to warrant treatment efficiency. We completed a preliminary clinical trial applying cantilever array sensors to demonstrate identification of a BRAF(V600E) single-point mutation using total RNA obtained from biopsies of metastatic melanoma of diverse sources (surgical material either frozen or fixated with formalin and embedded in paraffin). The method is faster than the standard Sanger or pyrosequencing methods and comparably sensitive as next-generation sequencing. Processing time from biopsy to diagnosis is below 1 day and does not require PCR amplification, sequencing, and labels.
authors.affiliation: Swiss Nanoscience Institute, Department of Physics, University of Basel , CH-4056 Basel, Switzerland.
authors.forename: François
authors.initials: F
authors.lastname: Huber
authors.affiliation: Swiss Nanoscience Institute, Department of Physics, University of Basel , CH-4056 Basel, Switzerland.
authors.forename: Hans Peter
authors.initials: HP
authors.lastname: Lang
authors.affiliation: Institute of Pathology, University Hospital Basel , CH-4031 Basel, Switzerland.
authors.forename: Katharina
authors.initials: K
authors.lastname: Glatz
authors.affiliation: Ludwig Center for Cancer Research, University of Lausanne , CH-1066 Epalinges, Switzerland.
authors.forename: Donata
authors.initials: D
authors.lastname: Rimoldi
authors.affiliation: Swiss Nanoscience Institute, Department of Physics, University of Basel , CH-4056 Basel, Switzerland.
authors.forename: Ernst
authors.initials: E
authors.lastname: Meyer
authors.affiliation: Swiss Nanoscience Institute, Department of Physics, University of Basel , CH-4056 Basel, Switzerland.
authors.forename: Christoph
authors.initials: C
authors.lastname: Gerber
mesh_terms: D001706:Biopsy; D004252:DNA Mutational Analysis; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: Nanomechanical microcantilever; biosensor; malignant melanoma; skin cancer