Open Access

Comparative mutational analysis of distal colon cancer with rectal cancer

  • Authors:
    • Zhiyong Zhang
    • Aili Wang
    • Xuan Tang
    • Ying Chen
    • Erjiang Tang
    • Huihong Jiang
  • View Affiliations

  • Published online on: January 8, 2020     https://doi.org/10.3892/ol.2020.11269
  • Pages: 1781-1788
  • Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Distal colon and rectal cancer are associated with each other but display distinct clinical behavior; however, the genetic basis for these differences is poorly understood. In the present study, a systematic comparison of mutational profiles between 137 distal colon and 125 rectal cancer samples was performed based on the data from the Memorial Sloan Kettering Cancer Center. Tumor mutational burden analysis showed that distal colon and rectal cancer harbored a similar burden of ~5.9 mutations/megabase, irrespective of the mismatch repair status. Comparison of significantly mutated genes between the groups determined that B‑Raf proto‑oncogene serine/threonine kinase mutations were enriched in distal colon cancer, whilst RAS and SMAD family member 4 (SMAD4) mutations were significantly more frequent in rectal cancer. Furthermore, two novel and potentially targetable hotspot mutations (APC regulator of WNT signaling pathway R876* and SMAD4 R361) were identified, which were enriched in rectal cancer compared with distal colon cancer. Overall, the results of the present study showed that the mutation profiles of distal colon and rectal cancer were largely similar, but distinct in specific key genetic events, which may provide valuable information for improving the management of patients with the disease.
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March-2020
Volume 19 Issue 3

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
Zhang Z, Wang A, Tang X, Chen Y, Tang E and Jiang H: Comparative mutational analysis of distal colon cancer with rectal cancer. Oncol Lett 19: 1781-1788, 2020
APA
Zhang, Z., Wang, A., Tang, X., Chen, Y., Tang, E., & Jiang, H. (2020). Comparative mutational analysis of distal colon cancer with rectal cancer. Oncology Letters, 19, 1781-1788. https://doi.org/10.3892/ol.2020.11269
MLA
Zhang, Z., Wang, A., Tang, X., Chen, Y., Tang, E., Jiang, H."Comparative mutational analysis of distal colon cancer with rectal cancer". Oncology Letters 19.3 (2020): 1781-1788.
Chicago
Zhang, Z., Wang, A., Tang, X., Chen, Y., Tang, E., Jiang, H."Comparative mutational analysis of distal colon cancer with rectal cancer". Oncology Letters 19, no. 3 (2020): 1781-1788. https://doi.org/10.3892/ol.2020.11269