Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Sep 19;14(1):116.
doi: 10.1186/s13148-022-01334-3.

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

Cora Palanca-Ballester  1 , David Hervas  2 , Maria Villalba  3   4 , Teresa Valdes-Sanchez  5 , Diana Garcia  6 , Maria Isabel Alcoriza-Balaguer  1 , Marta Benet  1 , Raquel Martinez-Tomas  7 , Andres Briones-Gomez  7 , Jose Galbis-Caravajal  8 , Alfonso Calvo  3   4 , Oscar Juan  1 , Agustin Lahoz  1 , Enrique Cases  7 , Juan Sandoval  9   10
Affiliations

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

Cora Palanca-Ballester et al. Clin Epigenetics. .

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.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
BCAT1 DNA methylation levels in plasma samples using digital droplet PCR. A DNA methylation levels in plasma from patients with lung cancer and control donors. p values for the analyses were calculated using the multivariable logistic regression model. ***p < 0.001. B ROC curves and areas under the curve (AUC). C sensitivity and specificity profiles for the different possible cutoff values of the results
See this image and copyright information in PMC

References

    1. Siegel RL, Miller KD, Fuchs HE, Jemal A. Cancer statistics, 2022. CA Cancer J Clin. 2022;72(1):7–33. doi: 10.3322/caac.21708. - DOI - PubMed
    1. Seijo LM, Peled N, Ajona D, Boeri M, Field JK, Sozzi G, et al. Biomarkers in lung cancer screening: achievements, promises, and challenges. J Thorac Oncol. 2019;14(3):343–357. doi: 10.1016/j.jtho.2018.11.023. - DOI - PMC - PubMed
    1. Berdasco M, Esteller M. Clinical epigenetics: seizing opportunities for translation. Nat Rev Genet. 2019;20(2):109–127. doi: 10.1038/s41576-018-0074-2. - DOI - PubMed
    1. Schmidt B, Liebenberg V, Dietrich D, Schlegel T, Kneip C, Seegebarth A, et al. SHOX2 DNA methylation is a biomarker for the diagnosis of lung cancer based on bronchial aspirates. BMC Cancer. 2010;10:600. doi: 10.1186/1471-2407-10-600. - DOI - PMC - PubMed
    1. Diaz-Lagares A, Mendez-Gonzalez J, Hervas D, Saigi M, Pajares MJ, Garcia D, et al. A novel epigenetic signature for early diagnosis in lung cancer. Clin Cancer Res. 2016;22(13):3361–3371. doi: 10.1158/1078-0432.CCR-15-2346. - DOI - PubMed

Publication types