The feasibility of circulating tumor DNA analysis as a marker of recurrence in triple-negative breast cancer

  • Authors:
    • Satoshi Okazaki
    • Takaaki Sasaki
    • Shunsuke Yasuda
    • Masahiro Abe
    • Nana Yoshida
    • Ryohei Yoshida
    • Kei Ishibashi
    • Yoshinori Minami
    • Shunsuke Okumura
    • Shinichi Chiba
    • Hidehiro Takei
    • Ryusuke Hayashi
    • Toshihiro Nagato
    • Hiroya Kobayashi
    • Ayumu Sugitani
    • Yusuke Ono
    • Yusuke Mizukami
    • Masahiro Kitada
    • Yoshinobu Ohsaki
  • View Affiliations

  • Published online on: March 28, 2021     https://doi.org/10.3892/ol.2021.12681
  • Article Number: 420
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Abstract

Triple‑negative breast cancer (TNBC) has a poorer prognosis than other breast cancer subtypes; therefore, identifying markers of early recurrence is important. The present study aimed to establish a liquid biopsy protocol for droplet digital PCR‑based detection of frequently mutated genes in patients with TNBC. Tumor DNA from 36 patients with TNBC who relapsed within 2 years after surgical resection was retrospectively analyzed. Somatic mutational profiles were evaluated using targeted sequencing to identify frequently mutated genes and genes associated with molecularly targeted therapies. The association between genetic alterations and associated protein phosphorylation was investigated using immunohistochemical analysis. Recurrent hot spot mutations in the plasma were monitored over time. Mutation‑specific probes were used to successfully detect mutations in the blood samples of patients who were positive for PIK3CA H1047R and AKT1 E17K mutations. Somatic mutations in AKT1 (14.9%) and PIK3CA (25.5%) were frequently identified in the data. Robust phosphorylation of AKT and S6RP was more common in tumors with PIK3CA H1047R and AKT1 E17K mutational background than in tumors with wild‑type PIK3CA and AKT1. In conclusion, the present study evaluated a high‑sensitivity detection system for frequently mutated genes that was also applicable for cell‑free DNA. The PI3K/AKT pathway was revealed to be activated in patients harboring PIK3CA H1047R and AKT1 E17K mutations; therefore, the PI3K/AKT pathway may be a promising candidate for targeted therapy in these patients.
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May-2021
Volume 21 Issue 5

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

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Spandidos Publications style
Okazaki S, Sasaki T, Yasuda S, Abe M, Yoshida N, Yoshida R, Ishibashi K, Minami Y, Okumura S, Chiba S, Chiba S, et al: The feasibility of circulating tumor DNA analysis as a marker of recurrence in triple-negative breast cancer. Oncol Lett 21: 420, 2021
APA
Okazaki, S., Sasaki, T., Yasuda, S., Abe, M., Yoshida, N., Yoshida, R. ... Ohsaki, Y. (2021). The feasibility of circulating tumor DNA analysis as a marker of recurrence in triple-negative breast cancer. Oncology Letters, 21, 420. https://doi.org/10.3892/ol.2021.12681
MLA
Okazaki, S., Sasaki, T., Yasuda, S., Abe, M., Yoshida, N., Yoshida, R., Ishibashi, K., Minami, Y., Okumura, S., Chiba, S., Takei, H., Hayashi, R., Nagato, T., Kobayashi, H., Sugitani, A., Ono, Y., Mizukami, Y., Kitada, M., Ohsaki, Y."The feasibility of circulating tumor DNA analysis as a marker of recurrence in triple-negative breast cancer". Oncology Letters 21.5 (2021): 420.
Chicago
Okazaki, S., Sasaki, T., Yasuda, S., Abe, M., Yoshida, N., Yoshida, R., Ishibashi, K., Minami, Y., Okumura, S., Chiba, S., Takei, H., Hayashi, R., Nagato, T., Kobayashi, H., Sugitani, A., Ono, Y., Mizukami, Y., Kitada, M., Ohsaki, Y."The feasibility of circulating tumor DNA analysis as a marker of recurrence in triple-negative breast cancer". Oncology Letters 21, no. 5 (2021): 420. https://doi.org/10.3892/ol.2021.12681