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Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma.

Ophthalmic genetics - 1 Dec 2022

Sirivolu Shreya, Xu Liya, Warren Mikako, Prabakar Rishvanth K, Shah Rachana, Kuhn Peter, Hicks James, Berry Jesse L

Abstract excerpt

BACKGROUND: In patients with retinoblastoma, gains of chromosome 6p have been associated with less differentiated tumors. In cell-free DNA from the aqueous humor (AH), 6p gain has been associated with an increased risk of enucleation. While the identification of somatic copy number alterations (SCNAs) via the AH has been well established, these alterations are not routinely identified in the blood due to low...

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Identifiers

PMID: 36342106
DOI: 10.1080/13816810.2022.2142246
PMCID: PMC9877166

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