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Author:

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

Indexed by:

SCIE PubMed Scopus

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.

Keyword:

BRCA1 BRCA2 breast cancer chinese population

Author Community:

  • [ 1 ] [Wei, Hongyi; Wang, Minghao; Zhong, Ling; Zeng, Zhen; Zhang, Ting; Tan, Xuanni; Pan, Qinwen; Chen, Li; Zhang, Fan; Fan, Linjun; Zhang, Yi; Yang, Xinhua; Li, Jingbo; Jiang, Jun] Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 2 ] [Ou, Jianghua; Jiang, Weihua] Xinjiang Med Univ, Dept Breast Surg, Affiliated Tumor Hosp, Urumqi 830011, Xinjiang, Peoples R China
  • [ 3 ] [Tian, Fuguo] Shanxi Canc Hosp, Breast Surg, Taiyuan 030013, Shanxi, Peoples R China
  • [ 4 ] [Sheng, Yuan; Li, Hengyu] Second Mil Med Univ, Changhai Hosp, Dept Thyroid & Breast Surg, Shanghai 200433, Peoples R China
  • [ 5 ] [Xu, Hong; Zhang, Ruishan] Liaoning Canc Hosp & Inst, Dept Breast Surg, Shenyang 110042, Liaoning, Peoples R China
  • [ 6 ] [Guan, Aihua; Wang, Changqing] Jilin Canc Hosp & Inst, Dept Breast Surg, Changchun 130000, Jilin, Peoples R China
  • [ 7 ] [Jiang, Hongchuan] Capital Med Univ, Dept Gen Surg, Beijing Chaoyang Hosp, Beijing 100020, Peoples R China
  • [ 8 ] [Ren, Yu; He, Jianjun] Xi An Jiao Tong Univ, Dept Breast Surg, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China
  • [ 9 ] [Liu, Jian; Huang, Weiwei] Fujian Prov Canc Hosp, Dept Med Oncol, Fuzhou 350014, Fujian, Peoples R China
  • [ 10 ] [Liao, Ning] Guangdong Acad Med Sci, Guangdong Gen Hosp, Breast Dept, Canc Ctr, Guangzhou 510080, Guangdong, Peoples R China
  • [ 11 ] [Cai, Xiangjun] PLA 202 Hosp, Dept Hepatobiliary & Gen Surg, Shenyang 110812, Liaoning, Peoples R China
  • [ 12 ] [Ming, Jia] Chongqing Med Univ, Dept Breast Thyroid & Pancreas Surg, Affiliated Hosp 2, Chongqing 400010, Peoples R China
  • [ 13 ] [Ling, Rui] Forth Mil Univ, Xijing Hosp, Depatement Thyroid Breast & Vasc Surg, Xian 710032, Shaanxi, Peoples R China
  • [ 14 ] [Xu, Yan; Hu, Chunyan] Third Mil Med Univ, Res Inst Surg, Daping Hosp, Dept Breast Surg, Chongqing 400038, Peoples R China
  • [ 15 ] [Zhang, Jianguo; Guo, Baoliang] Harbin Med Univ, Dept Breast Surg, Affiliated Hosp 2, Harbin 150086, Heilongjiang, Peoples R China
  • [ 16 ] [Ouyang, Lizhi] Cent S Univ, Affiliated Canc Hosp, Hunan Canc Hosp, Dept Breast Surg,Xiangya Sch Med, Changsha 4100013, Hunan, Peoples R China
  • [ 17 ] [Shuai, Ping] Sichuan Prov Peoples Hosp, Hlth Management Ctr, Chengdu 610072, Sichuan, Peoples R China
  • [ 18 ] [Liu, Zhenzhen] Henan Canc Hosp, Dept Breast Surg, Zhengzhou 450008, Henan, Peoples R China
  • [ 19 ] [Jing, Ruilin; Zhang, Meng; Xuan, Zhaoling; Liang, Junbin; Chen, Chongjian] Annoroad Gene Technol Beijing Co Ltd, 88 Kechuang Six St, Beijing 100176, Peoples R China
  • [ 20 ] [Wei, Hongyi]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 21 ] [Wang, Minghao]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 22 ] [Zhong, Ling]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 23 ] [Zeng, Zhen]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 24 ] [Zhang, Ting]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 25 ] [Tan, Xuanni]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 26 ] [Pan, Qinwen]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 27 ] [Chen, Li]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 28 ] [Zhang, Fan]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 29 ] [Fan, Linjun]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 30 ] [Zhang, Yi]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 31 ] [Yang, Xinhua]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 32 ] [Li, Jingbo]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 33 ] [Jiang, Jun]Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China
  • [ 34 ] [Ou, Jianghua]Xinjiang Med Univ, Dept Breast Surg, Affiliated Tumor Hosp, Urumqi 830011, Xinjiang, Peoples R China
  • [ 35 ] [Jiang, Weihua]Xinjiang Med Univ, Dept Breast Surg, Affiliated Tumor Hosp, Urumqi 830011, Xinjiang, Peoples R China
  • [ 36 ] [Tian, Fuguo]Shanxi Canc Hosp, Breast Surg, Taiyuan 030013, Shanxi, Peoples R China
  • [ 37 ] [Sheng, Yuan]Second Mil Med Univ, Changhai Hosp, Dept Thyroid & Breast Surg, Shanghai 200433, Peoples R China
  • [ 38 ] [Li, Hengyu]Second Mil Med Univ, Changhai Hosp, Dept Thyroid & Breast Surg, Shanghai 200433, Peoples R China
  • [ 39 ] [Xu, Hong]Liaoning Canc Hosp & Inst, Dept Breast Surg, Shenyang 110042, Liaoning, Peoples R China
  • [ 40 ] [Zhang, Ruishan]Liaoning Canc Hosp & Inst, Dept Breast Surg, Shenyang 110042, Liaoning, Peoples R China
  • [ 41 ] [Guan, Aihua]Jilin Canc Hosp & Inst, Dept Breast Surg, Changchun 130000, Jilin, Peoples R China
  • [ 42 ] [Wang, Changqing]Jilin Canc Hosp & Inst, Dept Breast Surg, Changchun 130000, Jilin, Peoples R China
  • [ 43 ] [Jiang, Hongchuan]Capital Med Univ, Dept Gen Surg, Beijing Chaoyang Hosp, Beijing 100020, Peoples R China
  • [ 44 ] [Ren, Yu]Xi An Jiao Tong Univ, Dept Breast Surg, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China
  • [ 45 ] [He, Jianjun]Xi An Jiao Tong Univ, Dept Breast Surg, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China
  • [ 46 ] [Liu, Jian]Fujian Prov Canc Hosp, Dept Med Oncol, Fuzhou 350014, Fujian, Peoples R China
  • [ 47 ] [Huang, Weiwei]Fujian Prov Canc Hosp, Dept Med Oncol, Fuzhou 350014, Fujian, Peoples R China
  • [ 48 ] [Liao, Ning]Guangdong Acad Med Sci, Guangdong Gen Hosp, Breast Dept, Canc Ctr, Guangzhou 510080, Guangdong, Peoples R China
  • [ 49 ] [Cai, Xiangjun]PLA 202 Hosp, Dept Hepatobiliary & Gen Surg, Shenyang 110812, Liaoning, Peoples R China
  • [ 50 ] [Ming, Jia]Chongqing Med Univ, Dept Breast Thyroid & Pancreas Surg, Affiliated Hosp 2, Chongqing 400010, Peoples R China
  • [ 51 ] [Ling, Rui]Forth Mil Univ, Xijing Hosp, Depatement Thyroid Breast & Vasc Surg, Xian 710032, Shaanxi, Peoples R China
  • [ 52 ] [Xu, Yan]Third Mil Med Univ, Res Inst Surg, Daping Hosp, Dept Breast Surg, Chongqing 400038, Peoples R China
  • [ 53 ] [Hu, Chunyan]Third Mil Med Univ, Res Inst Surg, Daping Hosp, Dept Breast Surg, Chongqing 400038, Peoples R China
  • [ 54 ] [Zhang, Jianguo]Harbin Med Univ, Dept Breast Surg, Affiliated Hosp 2, Harbin 150086, Heilongjiang, Peoples R China
  • [ 55 ] [Guo, Baoliang]Harbin Med Univ, Dept Breast Surg, Affiliated Hosp 2, Harbin 150086, Heilongjiang, Peoples R China
  • [ 56 ] [Ouyang, Lizhi]Cent S Univ, Affiliated Canc Hosp, Hunan Canc Hosp, Dept Breast Surg,Xiangya Sch Med, Changsha 4100013, Hunan, Peoples R China
  • [ 57 ] [Shuai, Ping]Sichuan Prov Peoples Hosp, Hlth Management Ctr, Chengdu 610072, Sichuan, Peoples R China
  • [ 58 ] [Liu, Zhenzhen]Henan Canc Hosp, Dept Breast Surg, Zhengzhou 450008, Henan, Peoples R China
  • [ 59 ] [Jing, Ruilin]Annoroad Gene Technol Beijing Co Ltd, 88 Kechuang Six St, Beijing 100176, Peoples R China
  • [ 60 ] [Zhang, Meng]Annoroad Gene Technol Beijing Co Ltd, 88 Kechuang Six St, Beijing 100176, Peoples R China
  • [ 61 ] [Xuan, Zhaoling]Annoroad Gene Technol Beijing Co Ltd, 88 Kechuang Six St, Beijing 100176, Peoples R China
  • [ 62 ] [Liang, Junbin]Annoroad Gene Technol Beijing Co Ltd, 88 Kechuang Six St, Beijing 100176, Peoples R China
  • [ 63 ] [Chen, Chongjian]Annoroad Gene Technol Beijing Co Ltd, 88 Kechuang Six St, Beijing 100176, Peoples R China

Reprint Author's Address:

  • Third Mil Med Univ, Southwest Hosp, Dept Breast Surg, 30 Gaotanyan St, Chongqing 400038, Peoples R China.; Chen, CJ (reprint author), Annoroad Gene Technol Beijing Co Ltd, 88 Kechuang Six St, Beijing 100176, Peoples R China.

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Source :

ONCOLOGY LETTERS

ISSN: 1792-1074

Year: 2018

Issue: 6

Volume: 15

Page: 9420-9428

1 . 8 7 1

JCR@2018

2 . 9 6 7

JCR@2020

ESI Discipline: CLINICAL MEDICINE;

ESI HC Threshold:114

JCR Journal Grade:4

CAS Journal Grade:4

Cited Count:

WoS CC Cited Count: 4

SCOPUS Cited Count: 7

ESI Highly Cited Papers on the List: 0 Unfold All

WanFang Cited Count:

Chinese Cited Count:

30 Days PV: 9

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