Predictive modelling of brain metastasis risk and non-invasive biomarker detection using DNA methylation signatures

Methylated cell-free DNA was sequenced for 123 BM plasma and compared to plasma methylomes from 107 gliomas, central nervous system (CNS) lymphomas (CNSL), and non-CNS tumor controls. Plasma methylome-based classifiers of BM from other entities were built in fifty 80% discovery set iterations of 92/123 BM samples. External publicly-available tissue methylation data on 442 LUAD, 85 BM, and 146 glioma/CNSL/control samples were acquired for validation and the remaining 31/123 BM plasma samples were used for additional validation.