MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification

• Published in: Ophthalmic genetics Vol. 42; no. 5; pp. 604 - 611
• Main Authors: Price, Elizabeth A, Patel, Roopal, Scheimberg, Irene, Kotiloglu Karaa, Esin, Sagoo, Mandeep S, Reddy, M Ashwin, Onadim, Zerrin
• Format: Journal Article
• Language: English
• Published: England 01.10.2021
• Subjects: Child; Child, Preschool; Exons; Female; Gene Amplification - genetics; Genetic Testing; Humans; Infant; Male; N-Myc Proto-Oncogene Protein - genetics; Nucleic Acid Amplification Techniques - methods; Retinal Neoplasms - genetics; Retinal Neoplasms - pathology; Retinoblastoma - genetics; Retinoblastoma - pathology; Retinoblastoma Binding Proteins - genetics; Ubiquitin-Protein Ligases - genetics; RB1; genetic; sporadic; somatic; MYCN; Retinoblastoma

Retinoblastoma (Rb) is a childhood tumor of the developing retina where predisposition is caused by pathogenic variants. amplification ( ) has been implicated in around 2% of sporadic unilateral Rb tumors with no detectable variants. We audited data from tumors collected between 1993 and 2019 to det...