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学科主题临床医学
BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer
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
2009-09-01
DOI10.1007/s10549-008-0066-6
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
WOS记录号WOS:000269005400007
项目编号985-2-067-113 ; 30672419 ; 2005-2021
资助机构Program for New Century Excellent Talents in University ; National Natural Science Foundation of China ; Capital Medical development Foundation of China
引用统计
被引频次:27[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59155
专题北京大学临床肿瘤学院
北京大学临床肿瘤学院_乳腺癌预防治疗中心
北京大学临床肿瘤学院_流行病学研究室
北京大学临床肿瘤学院_党院办公室
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
推荐引用方式
GB/T 7714
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.
APA Chen, Weiqiu.,Pan, Kaifeng.,Ouyang, Tao.,Li, Jinfeng.,Wang, Tianfeng.,...&Xie, Yuntao.(2009).BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer.BREAST CANCER RESEARCH AND TREATMENT,117(1),55-60.
MLA Chen, Weiqiu,et al."BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer".BREAST CANCER RESEARCH AND TREATMENT 117.1(2009):55-60.
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