Detection of Copy-Number Variation in Circulating Cell-Free DNA in Patients With Uveal Melanoma.

Takuto SatoKamaneh Montazeri Evangelos S Gragoudas Anne Marie LaneMary Beth AronowJustine V Cohen Genevieve Marie BolandEric BanksChristopher Kachulis Mark FlehartyCarrie CibulskisAleigha LawlessViktor A Adalsteinsson Ryan J Sullivan Ivana K Kim

Published in: JCO precision oncology (2024)

ctDNA can be detected in mUM using ULP-WGS, and the TFx correlates with DS. 8q gain was consistently detectable in mUM, in line with previous studies indicating 8q gains early in primary UM and higher amplification with PD. Our work suggests that detection of CNAs by ULP-WGS, particularly focusing on 8q gain, could be a valuable blood biomarker to monitor PD in UM.

Keyphrases

copy number
mitochondrial dna
label free
loop mediated isothermal amplification
genome wide
real time pcr
dna methylation
gene expression
case control
circulating tumor