Open Access

Targeted molecular profiling of genetic alterations in colorectal cancer using next‑generation sequencing

  • Authors:
    • Jia Luo
    • Shengjun Zhang
    • Meihua Tan
    • Jia Li
    • Huadong Xu
    • Yanfei Tan
    • Yue Huang
  • View Affiliations

  • Published online on: December 10, 2019     https://doi.org/10.3892/ol.2019.11203
  • Pages: 1137-1144
  • Copyright: © Luo et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Colorectal cancer (CRC) is a major contributor to cancer‑associated mortality in China and remains a vast challenge worldwide. Although the genetic basis of CRC has been investigated, the uncommonly mutated genes in CRC remain unknown, in particular in the Asian population. In the present study, targeted region sequencing on 22 CRC and 10 paired non‑cancerous tissues was performed to determine the genetic pattern of CRC samples in the Chinese population. Driver genes were detected by three distinct softwares, including MutSigCV, oncodriveFM and iCAGES. A total of 1,335 reliable somatic mutations were identified in tumour samples compared with normal samples. Furthermore, mismatch repair (MMR) mutant patients presented significantly higher mutation density compared with MMR wild‑type patients. The results from MutSigCV, oncodriveFM and iCAGES analyses simultaneously detected 29 unique driver genes. In addition, the genes APC regulator of WNT signaling pathway, SMAD family member 4, neurofibromin 1, AT‑rich interaction domain 5B and nuclear receptor corepressor 1 were the top five most frequently mutated genes in CRC samples, with mutation rates of 68, 36, 36, 32 and 27%, respectively. The findings from the present study may therefore serve as a basis for future investigation on the diagnosis and oncogenesis of CRC.
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February-2020
Volume 19 Issue 2

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Copy and paste a formatted citation
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Spandidos Publications style
Luo J, Zhang S, Tan M, Li J, Xu H, Tan Y and Huang Y: Targeted molecular profiling of genetic alterations in colorectal cancer using next‑generation sequencing. Oncol Lett 19: 1137-1144, 2020
APA
Luo, J., Zhang, S., Tan, M., Li, J., Xu, H., Tan, Y., & Huang, Y. (2020). Targeted molecular profiling of genetic alterations in colorectal cancer using next‑generation sequencing. Oncology Letters, 19, 1137-1144. https://doi.org/10.3892/ol.2019.11203
MLA
Luo, J., Zhang, S., Tan, M., Li, J., Xu, H., Tan, Y., Huang, Y."Targeted molecular profiling of genetic alterations in colorectal cancer using next‑generation sequencing". Oncology Letters 19.2 (2020): 1137-1144.
Chicago
Luo, J., Zhang, S., Tan, M., Li, J., Xu, H., Tan, Y., Huang, Y."Targeted molecular profiling of genetic alterations in colorectal cancer using next‑generation sequencing". Oncology Letters 19, no. 2 (2020): 1137-1144. https://doi.org/10.3892/ol.2019.11203