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Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma

Authors Hu Y, Chen Y, Guo H, Yu J, Chen Y, Liu Y, Lan L, Li J, Wang H, Zhang H

Received 2 January 2020

Accepted for publication 27 April 2020

Published 30 June 2020 Volume 2020:12 Pages 5159—5167


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Dr Antonella D'Anneo

Ying Hu,1,* Yawei Chen,2,* Hao Guo,2 Jianing Yu,2 Yanhui Chen,3 Yang Liu,2 Ling Lan,4 Jian Li,5 Huaqing Wang,6 Henghui Zhang3

1Center of Integrative Medicine, Beijing Ditan Hospital, Capital Medical University, Beijing 100015, People’s Republic of China; 2Genecast Precision Medicine Technology Institute, Beijing 100000, People’s Republic of China; 3Institute of Infectious Diseases, Beijing Ditan Hospital, Capital Medical University, Beijing Key Laboratory of Emerging Infectious Diseases, Beijing 100015, People’s Republic of China; 4Department of Gastroenterology, Zhengzhou University People’s Hospital, Zhengzhou 450003, People’s Republic of China; 5Department of General Surgery, The Affiliated Cancer Hospital of Zhengzhou University (Henan Cancer Hospital), Zhengzhou 450000, People’s Republic of China; 6Department of Medical Oncology, Tianjin Union Medical Center, The Affiliated Hospital of Nankai University, Tianjin 300000, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Huaqing Wang; Henghui Zhang Email;

Purpose: The aim of this study was to evaluate the clinical value of plasma cell-free DNA (cfDNA) in the diagnosis of colorectal cancer (CRC).
Patients and Methods: The plasma cfDNA and tissue DNA mutation profiles were investigated in 77 patients (9 colon polyps, 18 colon adenoma, 26 colon cancer, and 24 rectal cancer) by a cancer gene-targeted NGS panel.
Results: During the progression from adenoma to carcinoma, mutations occur in genes such as RAS, Wnt, Hippo, Nrf2, TGFβ, PI3K, Notch, and P53, as well as in those encoding cell cycle pathway components. The somatic mutation burden and plasma cfDNA concentration were significantly higher in the colon carcinoma group than in the adenoma and colon polyp groups. The combination of plasma cfDNA concentration, CEA, and cfDNA had a significantly greater area under the curve than cfDNA or CEA alone. Right-sided colon cancer tissues showed a greater distribution of somatic mutations among more genes than left-sided colon cancer tissues. In addition, tissue tumor mutational burden (TMB) was higher in the right-sided colon cancer group than in the rectal cancer or left-sided colon cancer group (P< 0.05).
Conclusion: These results may indicate that somatic mutations in plasma cfDNA are potential biomarkers for the diagnosis of CRC. In addition, somatic mutations may be distributed in more genes and pathways in right-sided colon cancer than in left-side colon cancer.

Keywords: molecular alterations, cell-free DNA, diagnosis, colorectal adenoma, colorectal cancer

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