The somatic mutation landscape of Chinese Colorectal Cancer

Rong Ma^1#, Changwen Jing^1#, Yuan Zhang^1#, Haixia Cao¹, Siwen Liu¹, Zhuo Wang¹, Dan Chen¹, Junying Zhang¹, Yang Wu¹, Jianzhong Wu^1✉, Jifeng Feng^2✉

1. Clinical Cancer Research Center, Jiangsu Cancer Hospital &Jiangsu Institute of Cancer Research &The Affiliated Cancer Hospital of Nanjing Medical University, China.
2. Department of Chemotherapy, Jiangsu Cancer Hospital &Jiangsu Institute of Cancer Research &The Affiliated Cancer Hospital of Nanjing Medical University, China.
# These authors contributed equally to this work.

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Citation:
Ma R, Jing C, Zhang Y, Cao H, Liu S, Wang Z, Chen D, Zhang J, Wu Y, Wu J, Feng J. The somatic mutation landscape of Chinese Colorectal Cancer. J Cancer 2020; 11(5):1038-1046. doi:10.7150/jca.37017. Available from https://www.jcancer.org/v11p1038.htm

Abstract

Colorectal cancer (CRC) is the fifth leading cause of cancer-related death in China. The incidence of Chinese CRC has increased dramatically with the changes of dietary and lifestyle. However, the genetic landscape of Chinese colorectal cancer mutation is still poorly understood. In this study, we have performed whole exome-sequencing analysis of 63 CRC cases. We found that Chinese CRC were hypermutated, which were enriched in ECM-receptor interaction, antigen processing and presentation, and focal adhesion. Analysis with clinical characteristics indicated that the deficiency of CRC driver gene, FCGBP and NBPF1 conferred CRC development and was showed worse survival rates, which could be the novel regulators and, diagnostic and prognostic biomarkers for Chinese CRC. Taken together, the application of whole exome-sequencing unveiled previously unsuspected somatic mutation landscape in Chinese CRCs, which may expand the understanding of disease mechanisms and provide an alternative personalized treatment for Chinese CRC patients.

Keywords: Colorectal cancer, Whole exome-sequencing, FCGBP, NBPF1