Open Access

Functional analysis of BRCT missense mutations in BRCA1‑mutated Chinese Han familial breast cancer

  • Authors:
    • Hong Zhang
    • Linsen Li
    • Yuxia Wang
    • C. Cameron Yin
    • Yuntao Xie
    • Xijuan Liu
    • Huirong Ding
    • Zhihua Tian
    • Jing Shen
    • Long He
    • Miaoran Xia
    • Xi Ma
    • Lina Wu
  • View Affiliations

  • Published online on: September 19, 2017     https://doi.org/10.3892/ol.2017.7003
  • Pages: 5839-5844
  • Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Breast cancer 1 (BRCA1) is one of the most common tumor suppressor genes in breast cancer. The BRCT domain of BRCA1 has been shown to have a critical role in tumor suppression. In a previous study, two de novo BRCT missense mutations of BRCA1, G1763V and L1786P were identified from Chinese females with familial breast cancer. In the present study, the function of these two novel mutations were assessed by bioinformatics analysis and a series of experiments investigating cell proliferation, cell cycle and chemotherapy combination. Although bioinformatics analysis indicated that the mutants may be deleterious, a series of experiments revealed that the two mutants significantly reduced the growth and increased cell apoptosis similar to the function of BRCA1 wild type. Furthermore, no synergistic effect between the Olaparib and BRCA1 mutation was noted on cell apoptosis. These results demonstrated that these two mutations did not affect the tumor suppressor function of BRCA1. It was concluded that not all BRCA1 missense mutations are pathogenic and that any new BRCA1 mutation should be assessed for its effect on the tumor suppressor function of BRCA1.
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November-2017
Volume 14 Issue 5

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

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Spandidos Publications style
Zhang H, Li L, Wang Y, Yin CC, Xie Y, Liu X, Ding H, Tian Z, Shen J, He L, He L, et al: Functional analysis of BRCT missense mutations in BRCA1‑mutated Chinese Han familial breast cancer. Oncol Lett 14: 5839-5844, 2017
APA
Zhang, H., Li, L., Wang, Y., Yin, C.C., Xie, Y., Liu, X. ... Wu, L. (2017). Functional analysis of BRCT missense mutations in BRCA1‑mutated Chinese Han familial breast cancer. Oncology Letters, 14, 5839-5844. https://doi.org/10.3892/ol.2017.7003
MLA
Zhang, H., Li, L., Wang, Y., Yin, C. C., Xie, Y., Liu, X., Ding, H., Tian, Z., Shen, J., He, L., Xia, M., Ma, X., Wu, L."Functional analysis of BRCT missense mutations in BRCA1‑mutated Chinese Han familial breast cancer". Oncology Letters 14.5 (2017): 5839-5844.
Chicago
Zhang, H., Li, L., Wang, Y., Yin, C. C., Xie, Y., Liu, X., Ding, H., Tian, Z., Shen, J., He, L., Xia, M., Ma, X., Wu, L."Functional analysis of BRCT missense mutations in BRCA1‑mutated Chinese Han familial breast cancer". Oncology Letters 14, no. 5 (2017): 5839-5844. https://doi.org/10.3892/ol.2017.7003