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Article

Novel TRERF1 mutations in Chinese patients with ovarian endometriosis

  • Authors:
    • Bianna Cao
    • Yuanfeng Zeng
    • Fei Wu
    • Jun Liu
    • Zeliang Shuang
    • Xiaoyun Xu
    • Jiubai Guo
  • View Affiliations / Copyright

    Affiliations: Department of Gynecology, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi 330006, P.R. China, Department of Pathology, Jiangxi Provincial People's Hospital, Nanchang, Jiangxi 330006, P.R. China
  • Pages: 5435-5439
    |
    Published online on: January 26, 2018
       https://doi.org/10.3892/mmr.2018.8510
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Abstract

Endometriosis is an estrogen-dependent precancerous lesion exhibiting frequently perturbed level of steroid hormones and transcriptional‑regulating factor 1 (TRERF1) has a crucial role in the production of steroid hormones including estrogen. Endometriosis has previously been revealed to be a precancerous lesion that harbors somatic mutations in cancer‑associated genes. Therefore, the authors of the present study hypothesize that TRERF1 aberrations may be involved in the development of endometriosis. In the present study, endometriotic lesions and paired blood samples from 92 individuals with ovarian endometriosis were analyzed for the potential presence of TRERF1 mutations by sequencing the entire coding region and the corresponding intron‑exon boundaries of the TRERF1 gene. Two heterozygous missense somatic mutations [c.3166A>C (p.K1056Q) and c.3187 G>A (p.G1063R)] in the TRERF1 gene were identified in two out of 92 ectopic endometria (2.2%), to the best of our knowledge, these mutations have not been previously reported. From the two samples with TRERF1 mutations, one sample was from a 42‑year‑old patient also diagnosed with uterine leiomyoma and the other mutation was identified in a 36‑year‑old woman exhibiting no other apparent gynecological conditions. The evolutionary conservation analysis and in silico prediction of these TRERF1 mutations suggested that they may be pathogenic. To the best of our knowledge, the present study was the first to identify 2 novel, potentially ‘disease‑causing’ TRERF1 somatic mutations in the endometriotic lesions in 2 out of 92 patients with ovarian endometriosis; therefore, TRERF1 mutations may be involved in the pathogenesis of ovarian endometriosis.
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Copy and paste a formatted citation
Spandidos Publications style
Cao B, Zeng Y, Wu F, Liu J, Shuang Z, Xu X and Guo J: Novel TRERF1 mutations in Chinese patients with ovarian endometriosis. Mol Med Rep 17: 5435-5439, 2018.
APA
Cao, B., Zeng, Y., Wu, F., Liu, J., Shuang, Z., Xu, X., & Guo, J. (2018). Novel TRERF1 mutations in Chinese patients with ovarian endometriosis. Molecular Medicine Reports, 17, 5435-5439. https://doi.org/10.3892/mmr.2018.8510
MLA
Cao, B., Zeng, Y., Wu, F., Liu, J., Shuang, Z., Xu, X., Guo, J."Novel TRERF1 mutations in Chinese patients with ovarian endometriosis". Molecular Medicine Reports 17.4 (2018): 5435-5439.
Chicago
Cao, B., Zeng, Y., Wu, F., Liu, J., Shuang, Z., Xu, X., Guo, J."Novel TRERF1 mutations in Chinese patients with ovarian endometriosis". Molecular Medicine Reports 17, no. 4 (2018): 5435-5439. https://doi.org/10.3892/mmr.2018.8510
Copy and paste a formatted citation
x
Spandidos Publications style
Cao B, Zeng Y, Wu F, Liu J, Shuang Z, Xu X and Guo J: Novel TRERF1 mutations in Chinese patients with ovarian endometriosis. Mol Med Rep 17: 5435-5439, 2018.
APA
Cao, B., Zeng, Y., Wu, F., Liu, J., Shuang, Z., Xu, X., & Guo, J. (2018). Novel TRERF1 mutations in Chinese patients with ovarian endometriosis. Molecular Medicine Reports, 17, 5435-5439. https://doi.org/10.3892/mmr.2018.8510
MLA
Cao, B., Zeng, Y., Wu, F., Liu, J., Shuang, Z., Xu, X., Guo, J."Novel TRERF1 mutations in Chinese patients with ovarian endometriosis". Molecular Medicine Reports 17.4 (2018): 5435-5439.
Chicago
Cao, B., Zeng, Y., Wu, F., Liu, J., Shuang, Z., Xu, X., Guo, J."Novel TRERF1 mutations in Chinese patients with ovarian endometriosis". Molecular Medicine Reports 17, no. 4 (2018): 5435-5439. https://doi.org/10.3892/mmr.2018.8510
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