Whole exome profiling and mutational analysis of Ocular Surface Squamous Neoplasia.

ABSTRACT:

Purpose

To determine genetic mutational profiles in patients with Ocular Surface Squamous Neoplasia (OSSN) using whole exome sequencing.

Methods

Prospective, case-series study. Patient recruitment was conducted in a single tertiary referral center from April to September 2017. Specimens were obtained by incisional biopsies of tumors from ten eyes with histopathologic confirmation of OSSN. DNA whole exome sequencing and mutation analysis were performed.

Results

Ten patients with clinically-diagnosed OSSN underwent DNA whole exome sequencing analysis. Deleterious mutations in 305 genes known to drive tumor development and progression were found. These mutations centered around two main pathways: DNA repair/cell cycle and development/growth. All ten samples had at least

SUBMITTER: Ramos-Betancourt N 

PROVIDER: S-EPMC7686168 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature