Detection of BRAFV600E Mutation in Melanoma Patients by Digital PCR of Circulating DNA
| Autor: | Barbora Vanova, Zora Lasabova, Martina Bobrovska, Lukáš Plank, Marian Grendar, Bibiana Malicherova, Tatiana Péčová, R. Dusenka, E. Minarikova, Igor Homola, Tatiana Burjanivova |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Proto-Oncogene Proteins B-raf Biology Polymerase Chain Reaction Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine medicine Biomarkers Tumor Humans Digital polymerase chain reaction Melanoma Genetics (clinical) Aged Aged 80 and over Liquid Biopsy General Medicine Middle Aged medicine.disease 030104 developmental biology 030220 oncology & carcinogenesis Mutation (genetic algorithm) Mutation Cancer research Circulating DNA Female Cell-Free Nucleic Acids |
| Zdroj: | Genetic testing and molecular biomarkers. 23(4) |
| ISSN: | 1945-0257 |
| Popis: | About 50% of melanomas have the BRAFV600E mutation. This mutation is an attractive therapeutic target. The aims of our study were to detect BRAFV600E mutations within circulating cell-free DNA in plasma ("liquid biopsy") by a droplet digital PCR (ddPCR) method, and to investigate how well the Breslow-Clark score can be predicted by ddPCR.We analyzed 113 patients with malignant melanoma. ddPCR was performed using the QX200 system (BIO-RADThe BRAFV600E mutation was detected in 37 of 113 samples. A moderate predictive accuracy of the Breslow-Clark score can be attained with the mitotic activity and the type of melanoma as the most important predictors.Our results show that ddPCR is a highly sensitive method and could be used for a routine laboratory detection of the BRAFV600E mutation as well as for follow-up monitoring to determine the treatment response in patients with malignant melanomas. |
| Databáze: | OpenAIRE |
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