Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

  • Authors:
    • Hongyi Wei
    • Minghao Wang
    • Jianghua Ou
    • Weihua Jiang
    • Fuguo Tian
    • Yuan Sheng
    • Hengyu Li
    • Hong Xu
    • Ruishan Zhang
    • Aihua Guan
    • Changqing  Wang
    • Hongchuan Jiang
    • Yu  Ren
    • Jianjun He
    • Jian Liu
    • Weiwei Huang
    • Ning Liao
    • Xiangjun Cai
    • Jia Ming
    • Rui Ling
    • Yan Xu
    • Chunyan Hu
    • Jianguo Zhang
    • Baoliang Guo
    • Lizhi Ouyang
    • Ping Shuai
    • Zhenzhen Liu
    • Ling Zhong
    • Ruilin Jing
    • Zhen Zeng
    • Meng Zhang
    • Ting Zhang
    • Zhaoling Xuan
    • Xuanni Tan
    • Junbin Liang
    • Qinwen Pan
    • Li Chen
    • Fan Zhang
    • Linjun Fan
    • Yi Zhang
    • Xinhua Yang
    • Jingbo Li
    • Chongjian Chen
    • Jun Jiang
  • View Affiliations

  • Published online on: April 18, 2018     https://doi.org/10.3892/ol.2018.8538
  • Pages: 9420-9428
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Abstract

Due to lack of systematic reviews, BRCA, DNA Repair Associated (BRCA) mutations in the Chinese population are not completely understood. The following study investigates the prevalence and type of BRCA mutations in Chinese patients with high hereditary risk of breast cancer (BC). Patients Drwere recruited from 14 cities between October 2015 and February 2016, and were selected based on family and personal medical history. BRCA mutations were analyzed by collecting blood samples from all participants. 437 BC patients were included. A total of seventy‑six (17.4%) mutation carriers were identified with no geographic difference. The mutation rate in the early‑onset BC patients was lower compared to family history of breast/ovarian cancer (OC), bilateral BC, male BC, BC&OC or meeting ≥2 criteria (9.2 vs. 21.7, 24.0, 22.2, 16.7 and 24.3%, respectively, P=0.007). A total of 61 mutation sites were identified (BRCA1 32, BRCA2 29) including 47.5% novel sites and extra 10 variants of uncertain significance. A total of five sites were repeated in more than one unrelated patient. A total of 11 sites were associated with hereditary breast and ovarian cancer syndrome, two of which were confirmed by family pedigrees. Compared with BRCA‑ patients, patients with BRCA1 mutation tended to be triple‑negative BC (P<0.001), whereas patients with BRCA2 mutation were more likely to be hormone receptor positive BC (P=0.02). The present study provides a general BRCA mutation profile in the Chinese population. The prevalence of BRCA mutation in BC patients with high hereditary risk is lower compared with Western populations. Chinese mutation type is different with Western people, without obvious founder mutation.
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June-2018
Volume 15 Issue 6

Print ISSN: 1792-1074
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Spandidos Publications style
Wei H, Wang M, Ou J, Jiang W, Tian F, Sheng Y, Li H, Xu H, Zhang R, Guan A, Guan A, et al: Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations. Oncol Lett 15: 9420-9428, 2018
APA
Wei, H., Wang, M., Ou, J., Jiang, W., Tian, F., Sheng, Y. ... Jiang, J. (2018). Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations. Oncology Letters, 15, 9420-9428. https://doi.org/10.3892/ol.2018.8538
MLA
Wei, H., Wang, M., Ou, J., Jiang, W., Tian, F., Sheng, Y., Li, H., Xu, H., Zhang, R., Guan, A., Wang, C., Jiang, H., Ren, Y., He, J., Liu, J., Huang, W., Liao, N., Cai, X., Ming, J., Ling, R., Xu, Y., Hu, C., Zhang, J., Guo, B., Ouyang, L., Shuai, P., Liu, Z., Zhong, L., Jing, R., Zeng, Z., Zhang, M., Zhang, T., Xuan, Z., Tan, X., Liang, J., Pan, Q., Chen, L., Zhang, F., Fan, L., Zhang, Y., Yang, X., Li, J., Chen, C., Jiang, J."Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations". Oncology Letters 15.6 (2018): 9420-9428.
Chicago
Wei, H., Wang, M., Ou, J., Jiang, W., Tian, F., Sheng, Y., Li, H., Xu, H., Zhang, R., Guan, A., Wang, C., Jiang, H., Ren, Y., He, J., Liu, J., Huang, W., Liao, N., Cai, X., Ming, J., Ling, R., Xu, Y., Hu, C., Zhang, J., Guo, B., Ouyang, L., Shuai, P., Liu, Z., Zhong, L., Jing, R., Zeng, Z., Zhang, M., Zhang, T., Xuan, Z., Tan, X., Liang, J., Pan, Q., Chen, L., Zhang, F., Fan, L., Zhang, Y., Yang, X., Li, J., Chen, C., Jiang, J."Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations". Oncology Letters 15, no. 6 (2018): 9420-9428. https://doi.org/10.3892/ol.2018.8538