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学科主题: 临床医学
题名:
A Recurrent CHEK2 p.H371Y Mutation is Associated with Breast Cancer Risk in Chinese Women
作者: Liu, Yin1; Liao, Ji2; Xu, Ye1; Chen, Weiqiu1; Liu, Dongyun2; Ouyang, Tao1; Li, Jinfeng1; Wang, Tianfeng1; Fan, Zhaoqing1; Fan, Tie1; Lin, Benyao1; Xu, Xingzhi2; Xie, Yuntao1
关键词: CHEK2 ; p.H371Y ; Chinese women ; familial breast cancer
刊名: HUMAN MUTATION
发表日期: 2011-09-01
DOI: 10.1002/humu.21538
卷: 32, 期:9, 页:1000-1003
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: HEREDITARY BREAST ; OVARIAN-CANCER ; SUSCEPTIBILITY ; ACTIVATION ; 1100DELC ; VARIANTS ; FAMILIES ; KINASE ; BRCA2 ; GENE
英文摘要:

The association between the CHEK2 and breast cancer risk in Chinese women is unknown. Here, we screened the full CHEK2 coding sequence in 118 Chinese familial breast cancer cases who are negative for mutations in BRCA1 and BRCA2, one recurrent mutation, CHEK2 c.1111C>T (p.H371Y), was identified in five index cases in this cohort. Functional analysis suggested that CHEK2 p.H371Y was a pathogenic mutation that resulted in decreased kinase activity. We further screened the CHEK2 p.H371Y mutation in 909 unselected breast cancer cases and 1,228 healthy individuals. The frequencies of the CHEK2 p.H371Y in familial and unselected breast cancer cases and controls were 4.24% (5/118), 1.76% (16/909), and 0.73% (9/1228), respectively. The p.H371Y mutation was significantly associated with increased breast cancer risk in unselected breast cancer (odds ratio [OR] 2.43, 95% confidence interval [CI] 1.07-5.52, P = 0.034). Our results indicate that the recurrent mutation, p.H371Y, confers a moderate risk of breast cancer in Chinese women. Hum Mutat 32:1000-1003, 2011. (C) 2011 Wiley-Liss, Inc.

语种: 英语
所属项目编号: 985-2-067-113 ; 30672419 ; 31071190 ; PHR20110508
项目资助者: Program for New Century Excellent Talents in University ; National Natural Science Foundation of China ; Funding Project for Academic Human Resources Development in Institutions of Higher Learning Under the Jurisdiction of Beijing Municipality ; Program for Breast Cancer Tissue Bank of Beijing
WOS记录号: WOS:000294183500003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55746
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, Canc Hosp, Beijing Canc Hosp & Inst,Breast Ctr, Key Lab Carcinogenesis & Translat Res,Minist Educ, Beijing 100142, Peoples R China
2.Capital Normal Univ, Coll Life Sci, Canc Biol Lab, Beijing, Peoples R China

Recommended Citation:
Liu, Yin,Liao, Ji,Xu, Ye,et al. A Recurrent CHEK2 p.H371Y Mutation is Associated with Breast Cancer Risk in Chinese Women[J]. HUMAN MUTATION,2011,32(9):1000-1003.
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