RB1 gene mutations in retinoblastoma and its clinical correlation.

ABSTRACT:

Purpose

To find correlation between the type of mutations observed and the severity of the disease using multiple techniques like polymerase chain reactions (PCR), quantitative multiplex PCR, sequencing and RNA analysis.

Methods

Prospective, observational study. Patients who had been screened for mutations in the RB1 gene were included in the study. Patient details including demographic data; age and sex, laterality, international classification of intraocular retinoblastoma (ICIOR) staging, modality of management, histopathology high risk factors if the eyes were enucleated and metastasis rate were assessed.

Results

Seventy four patients were studied. Fifty three patients had bilateral and 21 unilateral disease. Complete genetic data was analyzed for 74 patients and

SUBMITTER: Ali MJ 

PROVIDER: S-EPMC3729507 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature