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学科主题: 临床医学
题名:
BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer
作者: Chen, Weiqiu1; Pan, Kaifeng2; Ouyang, Tao1; Li, Jinfeng1; Wang, Tianfeng1; Fan, Zhaoqing1; Fan, Tie1; Lin, Benyao1; Lu, Youyong3; You, Weicheng2; Xie, Yuntao1
关键词: BRCA1 ; Mutation ; Chinese women ; Breast cancer
刊名: BREAST CANCER RESEARCH AND TREATMENT
发表日期: 2009-09-01
DOI: 10.1007/s10549-008-0066-6
卷: 117, 期:1, 页:55-60
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Oncology
研究领域[WOS]: Oncology
关键词[WOS]: PROGESTERONE-RECEPTOR ; HEREDITARY BREAST ; OVARIAN-CANCER ; PREVALENCE ; EPIDEMIOLOGY ; PATHOLOGY ; GENETICS ; ESTROGEN ; GENES
英文摘要:

The data related to BRCA1 germline mutation in Chinese women with familial breast cancer is increasing. However, little is known the frequency of BRCA1 mutations in Chinese women with familial or early-onset breast cancer from Northern China, and few studies are available to investigate the clinicopathological characteristics of BRCA1 tumors in Chinese women. In this study, we detected germline mutations in BRCA1 in a cohort of 139 breast cancer patients who either have a family history of breast cancer (n = 68) or whose tumors are diagnosed at or before the age of 35 (n = 71) from Northern China. A total of 6 deleterious BRCA1 mutations were identified in this cohort, 4 of which (5587-1 del8, 3887 del AG, IVS21 + 1delG, and 2129 ins TG) are novel and one mutation (3478del5) detected in this study was only reported in Chinese population. The frequency of BRCA1 mutations in women with familial or early-onset breast cancer was 5.9% (4/68) or 2.8% (2/71) in this cohort, respectively; but the mutations were detected in 4 of 16(25.0%) familial breast cancer patients whose tumors were diagnosed before the age of 40. Moreover, BRCA1 mutation tumors tended to be high histological grade, and to be negative for ER, PgR, and Her-2 compared with tumors without BRCA1 mutations. Our study suggests that Chinese women with a family history of breast cancer whose tumors are diagnosed before age of 40 would be a suitable candidate for BRCA1 testing; and BRCA1 tumors in Chinese women exhibit an aggressive phenotype.

语种: 英语
所属项目编号: 985-2-067-113 ; 30672419 ; 2005-2021
项目资助者: Program for New Century Excellent Talents in University ; National Natural Science Foundation of China ; Capital Medical development Foundation of China
WOS记录号: WOS:000269005400007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59155
Appears in Collections:北京大学临床肿瘤学院_期刊论文

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作者单位: 1.Peking Univ, Sch Oncol, Beijing Canc Hosp & Inst, Breast Ctr, Beijing 100036, Peoples R China
2.Peking Univ, Sch Oncol, Beijing Canc Hosp & Inst, Dept Epidemiol, Beijing 100036, Peoples R China
3.Peking Univ, Sch Oncol, Beijing Canc Hosp & Inst, Mol Oncol Lab, Beijing 100036, Peoples R China

Recommended Citation:
Chen, Weiqiu,Pan, Kaifeng,Ouyang, Tao,et al. BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer[J]. BREAST CANCER RESEARCH AND TREATMENT,2009,117(1):55-60.
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