Open Access

Identification of recurrent and novel mutations by whole‑genome sequencing of colorectal tumors from the Han population in Shanghai, eastern China

  • Authors:
    • Hongfei Teng
    • Renyuan Gao
    • Nan Qin
    • Xun Jiang
    • Min Ren
    • Yu Wang
    • Shouxin Wu
    • Ning Li
    • Jiangman Zhao
    • Huanlong Qin
  • View Affiliations

  • Published online on: October 17, 2018     https://doi.org/10.3892/mmr.2018.9563
  • Pages: 5361-5370
  • Copyright: © Teng et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Previous studies have identified recurrent oncogenic mutations in colorectal cancer (CRC), but there is limited CRC genomic data from the Chinese Han population. Whole‑genome sequencing was performed on 10 primary CRC tumors and matched adjacent normal tissues from patients from the Han population in Shanghai, at an average of 27.8x and 27.9x coverage, respectively. In the 10 tumor samples, 32 significant somatic mutated genes were identified, 13 of which were also reported as CRC mutations in The Cancer Genome Atlas Network. All the mutated genes were enriched in functions associated with channel activity, which has rarely been reported in previous studies investigating CRC. Furthermore, 21 chromosomal rearrangements were detected and 4 rearrangements encoded predicted in‑frame fusion proteins, including a fusion of phosphorylase kinase regulatory subunit b and NOTCH2 demonstrated in 2 out of 10 tumors. Chromosome 8 was amplified in 1 tumor and chromosome 20 was amplified in 2 out of 10 CRC patients. The present study produced a genomic mutation profile of CRC, which provides a valuable resource for further insight into the mutations that characterize CRC in patients from the Han population in Shanghai, eastern China.
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December-2018
Volume 18 Issue 6

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Teng H, Gao R, Qin N, Jiang X, Ren M, Wang Y, Wu S, Li N, Zhao J, Qin H, Qin H, et al: Identification of recurrent and novel mutations by whole‑genome sequencing of colorectal tumors from the Han population in Shanghai, eastern China. Mol Med Rep 18: 5361-5370, 2018.
APA
Teng, H., Gao, R., Qin, N., Jiang, X., Ren, M., Wang, Y. ... Qin, H. (2018). Identification of recurrent and novel mutations by whole‑genome sequencing of colorectal tumors from the Han population in Shanghai, eastern China. Molecular Medicine Reports, 18, 5361-5370. https://doi.org/10.3892/mmr.2018.9563
MLA
Teng, H., Gao, R., Qin, N., Jiang, X., Ren, M., Wang, Y., Wu, S., Li, N., Zhao, J., Qin, H."Identification of recurrent and novel mutations by whole‑genome sequencing of colorectal tumors from the Han population in Shanghai, eastern China". Molecular Medicine Reports 18.6 (2018): 5361-5370.
Chicago
Teng, H., Gao, R., Qin, N., Jiang, X., Ren, M., Wang, Y., Wu, S., Li, N., Zhao, J., Qin, H."Identification of recurrent and novel mutations by whole‑genome sequencing of colorectal tumors from the Han population in Shanghai, eastern China". Molecular Medicine Reports 18, no. 6 (2018): 5361-5370. https://doi.org/10.3892/mmr.2018.9563