Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma

N Ohtani-Fujita, TP Dryja, JM Rapaport, T Fujita… - Cancer genetics and …, 1997 - Elsevier
We previously reported 9 unilateral, sporadic retinoblastomas with hypermethylation in the
5′ region of the RB gene, and we found that CpG methylation in the RB promoter inhibits
the binding of the retinoblastoma binding factor 1 (RBF-1) and the activating transcription
factor (ATF)-like factors, thereby resulting in a considerable reduction in RB promoter
activity. In this study, we screened for hypermethylation in 121 additional cases of
retinoblastoma, and found 5 tumors with hypermethylation, including 4 unilateral, sporadic …