Finding new cancer epigenetic and genetic biomarkers from cell-free DNA by combining SALP-seq and machine learning.

作者: Shicai Liu , Jian Wu , Qiang Xia , Hongde Liu , Weiwei Li

DOI: 10.1016/J.CSBJ.2020.06.042

关键词:

摘要: The effective non-invasive diagnosis and prognosis are critical for cancer treatment. plasma cell-free DNA (cfDNA) provides a good material liquid biopsy its worth in this field is increasingly explored. Here we describe new pipeline effectively finding cfDNA-based biomarkers cancers by combining SALP-seq machine learning. Using the pipeline, 30 cfDNA samples from 26 esophageal (ESCA) patients 4 healthy people were analyzed as an example. As result, 103 epigenetic markers (including 54 genome-wide 49 promoter markers) 37 genetic identified cancer. These provide ESCA diagnosis, therapy. Importantly, these markers, especially not only shed important insights on regulatory mechanisms of cancer, but also could be used to classify samples. We therefore developed In study, discovered clinical distinct other reported characters.

参考文章(73)
Jacques Ferlay, Isabelle Soerjomataram, Rajesh Dikshit, Sultan Eser, Colin Mathers, Marise Rebelo, Donald Maxwell Parkin, David Forman, Freddie Bray, Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. International Journal of Cancer. ,vol. 136, ,(2015) , 10.1002/IJC.29210
Kun Sun, Peiyong Jiang, KC Allen Chan, The impact of digital DNA counting technologies on noninvasive prenatal testing Expert Review of Molecular Diagnostics. ,vol. 15, pp. 1261- 1268 ,(2015) , 10.1586/14737159.2015.1084227
Hong Yang, Xiao-dong Li, Ying Zhou, Xiaojiao Ban, Ting-ting Zeng, Lei Li, Bao-zhu Zhang, Jingping Yun, Dan Xie, Xin-Yuan Guan, Yan Li, Stemness and chemotherapeutic drug resistance induced by EIF5A2 overexpression in esophageal squamous cell carcinoma. Oncotarget. ,vol. 6, pp. 26079- 26089 ,(2015) , 10.18632/ONCOTARGET.4581
B Luo, J C Aster, R P Hasserjian, F Kuo, J Sklar, Isolation and functional analysis of a cDNA for human Jagged2, a gene encoding a ligand for the Notch1 receptor. Molecular and Cellular Biology. ,vol. 17, pp. 6057- 6067 ,(1997) , 10.1128/MCB.17.10.6057
Thomas Helleday, Saeed Eshtad, Serena Nik-Zainal, Mechanisms underlying mutational signatures in human cancers Nature Reviews Genetics. ,vol. 15, pp. 585- 598 ,(2014) , 10.1038/NRG3729
Millie Ferres, Lisa Hui, Diana Bianchi, Antenatal noninvasive DNA testing: clinical experience and impact. American Journal of Perinatology. ,vol. 31, pp. 577- 582 ,(2014) , 10.1055/S-0034-1371706
K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603
L. Lipska, M. Levy, V. Visokai, M. Zavoral, M. Minarik, L. Benesova, B. Belsanova, S. Suchanek, M. Kopeckova, P. Minarikova, Mutation-based detection and monitoring of cell-free tumor DNA in peripheral blood of cancer patients Analytical Biochemistry. ,vol. 433, pp. 227- 234 ,(2013) , 10.1016/J.AB.2012.06.018
Steven A. Roberts, Dmitry A. Gordenin, Hypermutation in human cancer genomes: footprints and mechanisms Nature Reviews Cancer. ,vol. 14, pp. 786- 800 ,(2014) , 10.1038/NRC3816