Droplet digital PCR for detection of BRAF V600E mutation in formalin-fixed, paraffin-embedded melanoma tissues: a comparison with Cobas^® 4800, Sanger sequencing, and allele-specific PCR.

ABSTRACT: Cutaneous melanoma has the worst prognosis of all skin cancers. Although emerging targeted therapies, such as B-Raf kinase inhibitor vemurafenib, improve prognosis they require an accurate and sensitive means of detecting the pathogenic BRAF V600E mutation. We compared the sensitivity of four BRAF V600E detection methods in formalin-fixed, paraffin-embedded melanoma biopsies from 87 consecutive melanoma patients with Breslow stage I-V disease (staging based on the depth of tumor of invasion). The methods assessed were the widely used Cobas^® 4800 system based on real-time PCR amplification, Sanger sequencing, allele-specific PCR (AS-PCR), and droplet digital PCR (ddPCR). The BRAF V600E mutation was found in 8 (9.2%), 23 (26.4%), 23 (26.4%) and 31 (35.6%) biop

SUBMITTER: Malicherova B 

PROVIDER: S-EPMC6291720 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature