Translation of a tissue epigenetic signature to circulating free DNA suggests BCAT1 as a potential noninvasive diagnostic biomarker for lung cancer
Cora Palanca-Ballester, David Hervás, María Villalba, Teresa Valdés‐Sánchez, Diana Garcia, Maria Isabel Alcoriza‐Balaguer, Marta Benet, Raquel Martínez-Tomás, Andrés Briones-Gómez, José M. Galbis, Alfonso Calvo, Óscar Juan, Agustín Lahoz, Enrique Cases, Juan Sandoval
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.