Open Access

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

  • Published online on: December 29, 2017     https://doi.org/10.3892/ol.2017.7717
  • Pages: 3068-3074
  • Copyright: © Fang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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March-2018
Volume 15 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
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