PT  - JOURNAL ARTICLE
AU  - Zhe Liu
AU  - Chao Yang
AU  - Min Yang
AU  - Yong Zhou
AU  - Xiangchun Li
AU  - Wen Luo
AU  - Bhaskar Roy
AU  - Teng Xiong
AU  - Xiuqing Zhang
AU  - Huanming Yang
AU  - Jian Wang
AU  - Zhenhao Ye
AU  - Yang Chen
AU  - Xiaodong Fang
AU  - Jie Du
TI  - Whole exome sequencing study of colorectal cancer in Chinese population reveals novel prevalently mutated genes and decreased mutation frequency of APC and Wnt signaling in lymph node positive cancer
AID  - 10.1101/155671
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 155671
4099  - http://biorxiv.org/content/early/2017/07/10/155671.short
4100  - http://biorxiv.org/content/early/2017/07/10/155671.full
AB  - Colorectal cancer is the fifth prevalent cancer in China. Nevertheless, a large-scale characterization of Chinese colorectal cancer mutation spectrums has not been carried out. In this study, we have performed whole exome-sequencing analysis of 98 patients’ tumor samples with matched pairs of normal colon tissues using Illumina and Complete Genomics high-throughput sequencing platforms. Canonical CRC somatic gene mutations with high prevalence (>10%) have been verified, including TP53, APC, KRAS, SMAD4, FBXW7 and PIK3CA. PEG3 is identified as a novel frequently mutated gene (10.6%). APC and Wnt signaling exhibit significantly lower mutation frequencies than those in TCGA data. Analysis with clinical characteristics indicates that APC gene and Wnt signaling display lower mutation rate in lymph node positive cancer than negative ones, which are not observed in TCGA data. APC gene and Wnt signaling are considered as the key molecule and pathway for CRC initiation, and these findings greatly undermine their importance in tumor progression for Chinese patients. Taken together, the application of next-generation sequencing has led to the determination of novel somatic mutations and novel disease mechanisms in CRC progression, which may be useful for understanding disease mechanism and personalizing treatment for Chinese patients.AbbreviationsCRCcolorectal cancerTCGAThe Cancer Genome AtlasSNVSingle Nucleotide variationInDelInsertion and deletionCOSMICthe Catalogue Of Somatic Mutations In Cancer