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Molecular Changes in Retinoblastoma beyond RB1: Findings from Next-Generation Sequencing

5 Jan 2021

Abstract excerpt

This investigation uses hybridization capture-based next-generation sequencing to deepen our understanding of genetics that underlie retinoblastoma. Eighty-three enucleated retinoblastoma specimens were evaluated using a MSK-IMPACT clinical next-generation sequencing panel to evaluate both somatic and germline alterations. Somatic copy number variations (CNVs) were also identified. Genetic profiles were...

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PMID: 33466343
DOI: 10.3390/cancers13010149

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