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Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population

  • Authors:
    • Min Fang
    • Li Zhu
    • Hengyu Li
    • Xizhou Li
    • Yanmei Wu
    • Kainan Wu
    • Jian Lin
    • Yuan Sheng
    • Yue Yu
  • View Affiliations / Copyright

    Affiliations: Department of Breast and Thyroid Surgery, Changhai Hospital, The Second Military Medical University, Shanghai 200433, P.R. China, Department of General Surgery, Chinese People's Liberation Army General Hospital, Beijing 100853, P.R. China
    Copyright: © Fang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 3068-3074
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    Published online on: December 29, 2017
       https://doi.org/10.3892/ol.2017.7717
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Abstract

The database of BRCA1/2 mutations in Chinese population remains incomplete at present. Therefore, the present study aimed to report specific harmful BRCA1/2 mutations in the Chinese population and discuss the clinicopathological features in mutation carriers. BRCA1/2 germline mutation tests for 71 patients with breast cancer from a hereditarily high‑risk Chinese population were performed using next‑generation sequencing for identification of deleterious mutations. Furthermore, the clinicopathological features between BRCA1/2 mutation carriers and non‑carriers were compared. A total of 13/71 (18.3%) patients carried a BRCA1 or BRCA2 mutation (7 BRCA1 and 6 BRCA2). The incidence of BRCA1/2 mutation in patients with bilateral breast cancer and patients with family history were 25, and 32.2%, respectively. Eleven pathogenic or likely pathogenic mutations were identified in 13 patients, among the mutation sites 7 were never reported before in Asian populations. The age at diagnosis of BRCA1/2 mutation carriers was older compared with non‑mutation carriers (44.73 vs. 35.39 years; P=0.001) in this cohort. BRCA1/2 deleterious mutation carriers had a significantly lower chance of human epidermal growth factor receptor‑2 (Her‑2) positive status (P=0.010), higher tumor grade at diagnosis (P=0.009), higher probability to have a family history (P=0.016) and older age at diagnosis. Estrogen receptor (ER) and progesterone receptor (PR) status were significantly different between BRCA1, and BRCA2 mutation carriers (P=0.007). The current interpretation of BRCA1/2 status can only explain a small part of hereditary high‑risk breast cancer. However, BRCA1/2 gene testing should still be recommended for women with a family history of breast cancer, as well as patients with breast cancer with specific pathologic types, which may be useful to make appropriate clinical decisions for treatment and prevention.
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Copy and paste a formatted citation
Spandidos Publications style
Fang M, Zhu L, Li H, Li X, Wu Y, Wu K, Lin J, Sheng Y and Yu Y: Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population. Oncol Lett 15: 3068-3074, 2018.
APA
Fang, M., Zhu, L., Li, H., Li, X., Wu, Y., Wu, K. ... Yu, Y. (2018). Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population. Oncology Letters, 15, 3068-3074. https://doi.org/10.3892/ol.2017.7717
MLA
Fang, M., Zhu, L., Li, H., Li, X., Wu, Y., Wu, K., Lin, J., Sheng, Y., Yu, Y."Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population". Oncology Letters 15.3 (2018): 3068-3074.
Chicago
Fang, M., Zhu, L., Li, H., Li, X., Wu, Y., Wu, K., Lin, J., Sheng, Y., Yu, Y."Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population". Oncology Letters 15, no. 3 (2018): 3068-3074. https://doi.org/10.3892/ol.2017.7717
Copy and paste a formatted citation
x
Spandidos Publications style
Fang M, Zhu L, Li H, Li X, Wu Y, Wu K, Lin J, Sheng Y and Yu Y: Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population. Oncol Lett 15: 3068-3074, 2018.
APA
Fang, M., Zhu, L., Li, H., Li, X., Wu, Y., Wu, K. ... Yu, Y. (2018). Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population. Oncology Letters, 15, 3068-3074. https://doi.org/10.3892/ol.2017.7717
MLA
Fang, M., Zhu, L., Li, H., Li, X., Wu, Y., Wu, K., Lin, J., Sheng, Y., Yu, Y."Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population". Oncology Letters 15.3 (2018): 3068-3074.
Chicago
Fang, M., Zhu, L., Li, H., Li, X., Wu, Y., Wu, K., Lin, J., Sheng, Y., Yu, Y."Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population". Oncology Letters 15, no. 3 (2018): 3068-3074. https://doi.org/10.3892/ol.2017.7717
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