Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

ABSTRACT:

Purpose

Retinoblastoma (Rb) is the most common primary intraocular cancer of childhood and one of the major causes of blindness in children. India has the highest number of patients with Rb in the world. Mutations in the RB1 gene are the primary cause of Rb, and heterogeneous mutations are distributed throughout the entire length of the gene. Therefore, genetic testing requires screening of the entire gene, which by conventional sequencing is time consuming and expensive.

Methods

In this study, we screened the RB1 gene in the DNA isolated from blood or saliva samples of 50 unrelated patients with Rb using the TruSight Cancer panel. Next-generation sequencing (NGS) was done on the Illumina MiSeq platform. Genetic variations were identified using the Strand NGS software and in

SUBMITTER: Singh J 

PROVIDER: S-EPMC4985049 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature