Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

ABSTRACT:

Purpose

The study aimed to generate a stepwise method to reduce the workload of full-scale RB1 sequencing for germline mutation screening in retinoblastoma (RB) patients. The implication of germline mutation in tumor focality was also determined in this study.

Methods

A stepwise method was created on the basis of "hotspot" exons analyzed using data on germline RB1 mutation in the RB1-Leiden Open Variation Database and then tested for mutation screening in the blood DNA of 42 patients with RB. The method was compared with the clinical next-generation sequencing (NGS) panel in terms of sequencing outcomes. The germline RB1 mutation was examined in association with multifocality in RB.

Results

Germline RB1 mutation was identified in 61% of all bilateral cases in the firs

SUBMITTER: Rojanaporn D 

PROVIDER: S-EPMC9527333 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature