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

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

doi:10.3892/ol.2018.8538

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
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Affiliations: Department of Breast Surgery, Southwest Hospital, The Third Military Medical University, Chongqing 400038, P.R. China, Department of Breast Surgery, The Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830011, P.R. China, Breast Surgery, Shanxi Cancer Hospital, Taiyuan, Shanxi 030013, P.R. China, Department of Thyroid and Breast Surgery, Changhai Hospital, Second Military Medical University, Shanghai 200433, P.R. China, Department of Breast Surgery, Liaoning Cancer Hospital and Institute, Shenyang, Liaoning 110042, P.R. China, Department of Breast Surgery, Jilin Cancer Hospital and Institute, Changchun, Jilin 130000, P.R. China, Department of General Surgery, Beijing Chaoyang Hospital Affiliated to Capital Medical University, Beijing 100020, P.R. China, Department of Breast Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, P.R. China, Department of Medical Oncology, Fujian Provincial Cancer Hospital, Fuzhou, Fujian 350014, P.R. China, Breast Department, Cancer Center, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong 510080, P.R. China, Department of Hepatobiliary and General Surgery, PLA No. 202 Hospital, Shenyang, Liaoning 110812, P.R. China, Department of Breast, Thyroid, and Pancreas Surgery, The Second Affiliated Hospital of Chongqing Medical University, Chongqing 400010, P.R. China, Depatement of Thyroid, Breast and Vascular Surgery, Xijing Hospital, Forth Military University, Xi'an, Shaanxi 710032, P.R. China, Department of Breast Surgery, Daping Hospital, Research Institute of Surgery, Third Military Medical University, Chongqing 400038, P.R. China, Department of Breast Surgery, The Second Affiliated Hospital of Harbin Medical College, Harbin, Heilongjiang 150086, P.R. China, Department of Breast Surgery, Hunan Cancer Hospital, Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha, Hunan 4100013, P.R. China, Health Management Center, Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, P.R. China, Department of Breast Surgery, Henan Cancer Hospital, Zhengzhou, Henan 450008, P.R. China, Annoroad Gene Technology (Beijing) Co., Ltd., Beijing 100176, P.R. China
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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