English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Tools annual

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Presents the access of premium content as premium feature

Premium Content

Global: Zendy Plus annual

Global: Zendy Free Plan

Cutaneous metastatic melanoma management has recently approached the age of individualized therapy (Romano et al., 2011). The discovery that the 1799T>A point mutation in the BRAF oncogene (BRAFV600E) occurs in ~50% of melanoma lesions and that melanoma cells bearing the mutation are oncogene addicted, i.e., strictly dependent upon BRAFV600E activity for growth and survival, have pointed to BRAFV600E as a promising target for therapy. Drugs targeting BRAF have been developed, and several clinical trials are currently ongoing. Phase I-II results recently reported remarkable tumor regression in the great majority of patients bearing disseminated BRAFV600E mutated melanoma disease after treatment with BRAFV600E-specific inhibitors. In these trials, BRAF mutational status is determined to select patients who may benefit from therapy. However, melanoma specimens are not always available to perform this analysis; moreover, a negative result in a single tumor biopsy may cover the presence of mutation-positive tumor lesions. Because blood has been proven to represent a valuable alternative source of tumor-derived cells as well as of tumor-derived DNA, several technical approaches have been studied to detect BRAFV600E in RNA/DNA extracted from bloodderived circulating tumor cells and in circulating free DNA isolated from plasma or serum. For these reasons, circulating BRAFV600E has the potential as both a specific melanoma molecular marker and a monitoring factor to be used to evaluate clinical response. In this chapter, we summarize the clinical and biological features of BRAF mutation in melanoma. Furthermore, we report a new BRAFV600E detection assay developed in our lab that shows high sensitivity and specificity.

BRAF V600E Mutated Gene Variant as a Circulating Molecular Marker in Metastatic Melanoma Patients