< em > MYCN < /em > amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification

Conclusions: MYCNA occurs in a small fraction of Rbs and can occur in the presence of pathogenic RB1 variants. However, where it occurs alongside RB1 alterations, the age of onset appears to be later. MYCNA has yet to be seen as a heritable change. In sporadic cases with early diagnosis, Rbs with no RB1 pathogenic variant identified should be tested for MYCNA. Conversely, tumors with MYCNA should still be screened for RB1 pathogenic variants.PMID:34003079 | DOI:10.1080/13816810.2021.1923038

Source: Ophthalmic Genetics - May 18, 2021 Category: Opthalmology Authors: Elizabeth A Price Roopal Patel Irene Scheimberg Esin Kotiloglu Karaa Mandeep S Sagoo M Ashwin Reddy Zerrin Onadim Source Type: research