Molecular Characteristics of Conjunctival Melanoma Using Whole-Exome Sequencing.

ABSTRACT: Importance:Conjunctival melanoma (CM) is a highly aggressive ocular cancer for which treatment options are limited; the molecular pathogenesis is poorly understood. Objective:To identify the molecular characteristics of CM using next-generation whole-exome sequencing (WES). Design, Setting, and Participants:Whole-exome sequencing was performed on tumor DNA extracted from the archived specimens of 5 patients with CM who had been treated with surgical excision between 2006 and 2011. These samples were analyzed at a tertiary academic ocular oncology referral center using a customized bioinformatic pipeline. Main Outcomes and Measures:Sample analyses were designed to detect driver mutations, chromosome copy number aberrations, and mutation signatures. Results:The study’s 5 patients ranged in a

SUBMITTER: Swaminathan SS 

PROVIDER: S-EPMC5782797 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature