Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing.

ABSTRACT:

Background

Analysis of melanomas for actionable mutations has become the standard of care. Recently, a classification scheme has been proposed that categorizes BRAF mutations based on their mechanisms for activation of the MAPK pathway.

Methods

In this analysis BRAF, KIT, NRAS, and PIK3CA mutations were examined by next generation sequencing (NGS) in 446 melanomas in a clinical diagnostic setting. KRAS and HRAS were also analyzed to elucidate coexisting BRAF and RAS mutations. BRAF mutations were categorized into class-1 (kinase-activated, codon 600), class-2 (kinase-activated, non-codon 600) and class-3 (kinase-impaired), based on the newly proposed classification scheme.

Results

NGS demonstrated high analytic sensitivity. Among 355 mutations detected, variant allele

SUBMITTER: Lokhandwala PM 

PROVIDER: S-EPMC6612071 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature