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学科主题临床医学
A Recurrent CHEK2 p.H371Y Mutation is Associated with Breast Cancer Risk in Chinese Women
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
2011-09-01
DOI10.1002/humu.21538
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
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 ; 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
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
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 ; 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
引用统计
被引频次:9[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/400002259/55746
专题北京大学临床肿瘤学院
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
推荐引用方式
GB/T 7714
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.
APA Liu, Yin.,Liao, Ji.,Xu, Ye.,Chen, Weiqiu.,Liu, Dongyun.,...&Xie, Yuntao.(2011).A Recurrent CHEK2 p.H371Y Mutation is Associated with Breast Cancer Risk in Chinese Women.HUMAN MUTATION,32(9),1000-1003.
MLA Liu, Yin,et al."A Recurrent CHEK2 p.H371Y Mutation is Associated with Breast Cancer Risk in Chinese Women".HUMAN MUTATION 32.9(2011):1000-1003.
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