Detection and reporting of RB1 promoter hypermethylation in diagnostic screening.

CONCLUSIONS: Promoter hypermethylation was detected in 11.4% of the retinoblastoma tumors and should be tested for in routine RB1 screening programmes. Constitutional samples are not expected to display RB1 hypermethylation. In a small proportion of cases it may not be possible to use this somatic change in patient management. PMID: 29851531 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29851531?dopt=Abstract

Source: Ophthalmic Genetics - June 1, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research