Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report

  • Authors:
    • Yanyan Wang
    • Da Jiang
    • Qiang Zhao
    • Hui Huang
    • Xue Zhang
    • Yanzhi Cui
    • Jiayin Liu
    • Jing Wu
    • Keke Lin
    • Weixi Chen
    • Jiale Xiang
    • Hui Jin
    • Zhiyu Peng
    • Santasree Banerjee
  • View Affiliations

  • Published online on: July 12, 2018     https://doi.org/10.3892/ol.2018.9139
  • Pages: 3913-3916
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Abstract

Hereditary breast cancer is an autosomal dominant syndrome caused by germ‑line mutations in the human breast cancer genes, BRCA1 and BRCA2. Mutations in either BRCA1 or BRCA2 are the major causes of familial and early‑onset breast cancer. The present study investigated a 33‑year‑old Chinese female patient with breast cancer using targeted next generation sequencing. A novel heterozygous deletion‑insertion was also identified in the BRCA1 gene, c.311_312delinsAGGTTTGCA, which causes the formation of a truncated BRCA1 protein of 109 amino acids instead of a wild‑type BRCA1 protein of 1,863 amino acids. These results could potentially expand the mutational spectra of BRCA1‑associated breast cancer. In addition, these findings may be valuable for the mutation‑based screening and genetic diagnosis of breast cancer.
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September-2018
Volume 16 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
Wang Y, Jiang D, Zhao Q, Huang H, Zhang X, Cui Y, Liu J, Wu J, Lin K, Chen W, Chen W, et al: Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report. Oncol Lett 16: 3913-3916, 2018.
APA
Wang, Y., Jiang, D., Zhao, Q., Huang, H., Zhang, X., Cui, Y. ... Banerjee, S. (2018). Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report. Oncology Letters, 16, 3913-3916. https://doi.org/10.3892/ol.2018.9139
MLA
Wang, Y., Jiang, D., Zhao, Q., Huang, H., Zhang, X., Cui, Y., Liu, J., Wu, J., Lin, K., Chen, W., Xiang, J., Jin, H., Peng, Z., Banerjee, S."Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report". Oncology Letters 16.3 (2018): 3913-3916.
Chicago
Wang, Y., Jiang, D., Zhao, Q., Huang, H., Zhang, X., Cui, Y., Liu, J., Wu, J., Lin, K., Chen, W., Xiang, J., Jin, H., Peng, Z., Banerjee, S."Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report". Oncology Letters 16, no. 3 (2018): 3913-3916. https://doi.org/10.3892/ol.2018.9139