Translation of a tissue epigenetic signature to circulating free DNA suggests BCAT1 as a potential noninvasive diagnostic biomarker for lung cancer

Clin Epigenetics. 2022 Sep 19;14(1):116. doi: 10.1186/s13148-022-01334-3.

Abstract

Lung cancer patients are diagnosed at late stages when curative treatments are no longer possible; thus, molecular biomarkers for noninvasive detection are urgently needed. In this sense, we previously identified and validated an epigenetic 4-gene signature that yielded a high diagnostic performance in tissue and invasive pulmonary fluids. We analyzed DNA methylation levels using the ultrasensitive digital droplet PCR in noninvasive samples in a cohort of 83 patients. We demonstrated that BCAT1 is the candidate that achieves high diagnostic efficacy in circulating DNA derived from plasma (area under the curve: 0.85). Impact of potentially confounding variables was also explored.

Keywords: BCAT1; Circulating DNA; DNA methylation; Epigenetics; Lung cancer; Noninvasive; Plasma; ddPCR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics
  • Cell-Free Nucleic Acids* / genetics
  • DNA
  • DNA Methylation
  • Epigenesis, Genetic
  • Humans
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / genetics
  • Transaminases / genetics

Substances

  • Biomarkers, Tumor
  • Cell-Free Nucleic Acids
  • DNA
  • BCAT1 protein, human
  • Transaminases