Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test
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DOI: 10.1001/jamaophthalmol.2025.1079
Abstract: Key Points Question Can a cell-free DNA (cfDNA) assay, when paired with buffy coat genomic DNA testing, detect RB1 mosaicism, and what are the implications for cfDNA testing outcomes? Findings In 136 participants with retinoblastoma… read more here.
Keywords: mosaicism; cfdna; characterization rb1; rb1 mosaicism ... See more keywords