Analysis of esophageal cancer-related mutations from cfDNA sequenced by Single-strand Adaptor Library Preparation sequencing

State Key Laboratory of Digital Medical Engineering, School of Biological Science and Medical Engineering, Southeast University, Nanjing 210096, China

^* Corresponding author: wangjinke@seu.edu.cn
^a gyspace@163.com
^b linda_summerq@163.com
^c liushicainj@163.com
^d liuhongde@seu.edu.cn

Abstract

Objectives: More convenient and effective non-invasive diagnostic methods are essential for the detection and prognosis of cancer. This study aimed to mine the information in plasma cfDNA to find novel biomarkers for the diagnosis of esophageal cancer (ESCA). Methods: Blood samples were collected from esophageal cancer patients and healthy individuals. SALP-seq method was used to construct libraries and sequence cfDNA samples from 40 esophageal cancer patients and 10 normal cfDNA samples, and mutation analysis was performed. Results: Esophageal cancer related mutational signatures and 52 mutated genes were identified. Many of these genes are known cancer-related genes. Mutations in these genes were also found in 11 additional ESCA cfDNA samples. Conclusion: SALP-seq based cfDNA mutation analysis can obtain reliable and verifiable biomarkers for ESCA. These biomarkers provide a novel reference for the diagnosis of esophageal cancer, as well as offer novel insights into understanding the cellular and molecular mechanisms of esophageal carcinogenesis. Finally, our method provides a new avenue to explore novel cancer biomarkers.