Abstract

To identify DNA methylation biomarkers in peripheral blood samples from triple-negative breast cancer (TNBC) patients. We conducted an epigenome-wide association study (EWAS): the most promising markers were identified in 233 TNBC case-control pairs (discovery set) and subsequently validated in an independent validation set (57 TNBC patients and 124 controls). cg06588802 (LINC00299/ID2) showed a higher methylation in TNBC patients compared with controls (discovery set: 3% increase, p-value=0.0009; validation set: 2% increase, p-value=0.01). Consistent results at four neighboring methylation probes and the strong negative correlation (rho=-0.93) with LINC00299 expression add plausibility to this result. Hypermethylation of LINC00299 in peripheral blood may constitute a useful circulating biomarker for TNBC.

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