Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand.

ABSTRACT:

Purpose

Retinoblastoma (RB) is a retinal tumor that most commonly occurs in children. Approximately 40% of RB patients carry germline mutations in the RB1 gene. RB survivors with germline mutations are at increased risk of passing on the disease to future offspring and of secondary cancer in adulthood. This highlights the importance of genetic testing in disease management and counseling. This study aimed to identify germline RB1 mutations and to correlate the mutations with clinical phenotypes of RB patients.

Methods

Genomic DNA was extracted from peripheral blood mononuclear cells isolated from 52 RB patients (27 unilaterally and 25 bilaterally affected probands). Mutations in the RB1 gene, including the promoter and exons 1-27 with flanking intronic s

SUBMITTER: Rojanaporn D 

PROVIDER: S-EPMC6300611 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature