Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls

被引：75

作者：

Zheng, Wei ^{[1
]}

Zhang, Ben ^{[1
]}

Cai, Qiuyin ^{[1
]}

Sung, Hyuna ^{[3
]}

Michailidou, Kyriaki ^{[7
]}

Shi, Jiajun ^{[1
]}

Choi, Ji-Yeob ^{[3
,4
]}

Long, Jirong ^{[1
]}

Dennis, Joe ^{[7
]}

Humphreys, Manjeet K. ^{[7
]}

Wang, Qin ^{[7
]}

Lu, Wei ^{[9
]}

Gao, Yu-Tang ^{[10
]}

Li, Chun ^{[2
]}

Cai, Hui ^{[1
]}

Park, Sue K. ^{[3
,4
,5
]}

Yoo, Keun-Young ^{[5
]}

Noh, Dong-Young ^{[4
,6
]}

Han, Wonshik ^{[4
,6
]}

Dunning, Alison M. ^{[8
]}

Benitez, Javier ^{[11
]}

Vincent, Daniel ^{[12
,13
]}

Bacot, Francois ^{[12
,13
]}

Tessier, Daniel ^{[12
,13
]}

Kim, Sung-Won ^{[14
]}

Lee, Min Hyuk ^{[15
]}

Lee, Jong Won ^{[16
,17
]}

Lee, Jong-Young ^{[18
]}

Xiang, Yong-Bing ^{[10
]}

Zheng, Ying ^{[9
]}

Wang, Wenjin ^{[9
]}

Ji, Bu-Tian ^{[19
]}

Matsuo, Keitaro ^{[20
]}

Ito, Hidemi ^{[20
]}

Iwata, Hiroji ^{[21
]}

Tanaka, Hideo ^{[20
]}

Wu, Anna H. ^{[22
]}

Tseng, Chiu-chen ^{[22
]}

Van den Berg, David ^{[22
]}

Stram, Daniel O. ^{[22
]}

Teo, Soo Hwang ^{[23
,24
]}

Yip, Cheng Har ^{[24
]}

Kang, In Nee ^{[23
]}

Wong, Tien Y. ^{[25
]}

Shen, Chen-Yang ^{[30
]}

Yu, Jyh-Cherng ^{[31
]}

Huang, Chiun-Sheng ^{[32
]}

Hou, Ming-Feng ^{[33
,34
]}

Hartman, Mikael ^{[26
,27
]}

Miao, Hui ^{[26
]}

机构：

[1] Vanderbilt Univ, Sch Med, Vanderbilt Epidemiol Ctr, Vanderbilt Ingram Canc Ctr,Div Epidemiol,Dept Med, Nashville, TN 37203 USA

[2] Vanderbilt Univ, Sch Med, Dept Biostat, Nashville, TN 37203 USA

[3] Seoul Natl Univ, Coll Med, Dept Biomed Sci, Seoul, South Korea

[4] Seoul Natl Univ, Coll Med, Canc Res Inst, Seoul, South Korea

[5] Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea

[6] Seoul Natl Univ, Coll Med, Dept Surg, Seoul, South Korea

[7] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[8] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England

[9] Shanghai Ctr Dis Control & Prevent, Shanghai, Peoples R China

[10] Shanghai Canc Inst, Dept Epidemiol, Shanghai, Peoples R China

[11] Spanish Natl Canc Res Ctr, Human Canc Genet Program, Human Genet Grp, Madrid, Spain

[12] McGill Univ, Montreal, PQ, Canada

[13] Genome Quebec Innovat Ctr, Montreal, PQ, Canada

[14] Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Surg, Songnam, South Korea

[15] Soon Chunh Yang Univ Hosp, Dept Surg, Seoul, South Korea

[16] Univ Ulsan, Coll Med, Dept Surg, Seoul, South Korea

[17] Asan Med Ctr, Seoul, South Korea

[18] Korea Natl Inst Hlth, Ctr Genome Sci, Chungcheongbuk Do, South Korea

[19] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA

[20] Aichi Canc Ctr Res Inst, Div Epidemiol & Prevent, Nagoya, Aichi, Japan

[21] Aichi Canc Ctr Cent Hosp, Dept Breast Oncol, Nagoya, Aichi, Japan

[22] Univ So Calif, Keck Sch Med, Kenneth Norris Jr Comprehens Canc Ctr, Dept Prevent Med, Los Angeles, CA 90033 USA

[23] Sime Darby Med Ctr, Canc Res Initiat Fdn, Subang Jaya, Selangor, Malaysia

[24] Univ Malaya, Canc Res Inst, Med Ctr, Breast Canc Res Unit, Kuala Lumpur, Malaysia

[25] Natl Univ Singapore, Singapore Eye Res Inst, Singapore 117548, Singapore

[26] Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117548, Singapore

[27] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Surg, Singapore 117595, Singapore

[28] Natl Univ Singapore, Canc Sci Inst Singapore, Singapore 117548, Singapore

[29] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Pathol, Singapore 117595, Singapore

[30] Acad Sinica, Inst Biomed Sci, Taipei, Taiwan

[31] Triserv Gen Hosp, Dept Surg, Taipei, Taiwan

[32] Natl Taiwan Univ Hosp, Dept Surg, Taipei 100, Taiwan

[33] Kaohsiung Med Univ, Chung Ho Mem Hosp, Ctr Canc, Kaohsiung, Taiwan

[34] Kaohsiung Med Univ, Chung Ho Mem Hosp, Dept Surg, Kaohsiung, Taiwan

[35] Natl Univ Hlth Syst, Dept Haematol Oncol, Singapore, Singapore

[36] Univ Warwick, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England

[37] Minist Publ Hlth, Nonthaburi, Thailand

[38] Natl Canc Inst, Bangkok, Thailand

[39] Nanjing Med Univ, Dept Epidemiol & Biostat, Nanjing, Jiangsu, Peoples R China

[40] Tianjin Med Univ, Canc Inst & Hosp, Dept Epidemiol & Biostat, Tianjin, Peoples R China

[41] Taiwan Biobank, Inst Biomed Sci, Taipei, Taiwan

[42] China Med Univ, Coll Publ Hlth, Taichung, Taiwan

[43] Sun Yat Sen Univ, Sch Publ Hlth, Guangzhou 510275, Guangdong, Peoples R China

[44] Univ Hong Kong, Li Ka Shing Fac Med, Dept Pathol, Hong Kong, Hong Kong, Peoples R China

[45] Natl Canc Ctr, Res Ctr Canc Prevent & Screening, Epidemiol & Prevent Div, Tokyo 104, Japan

[46] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

来源：

HUMAN MOLECULAR GENETICS | 2013年 / 22卷 / 12期

基金：

中国国家自然科学基金; 加拿大健康研究院; 瑞典研究理事会; 新加坡国家研究基金会;

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; CONFER SUSCEPTIBILITY; CHINESE; VARIANTS; POLYMORPHISMS; METAANALYSIS; ALLELES;

D O I：

10.1093/hmg/ddt089

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In a consortium including 23 637 breast cancer patients and 25 579 controls of East Asian ancestry, we investigated 70 single-nucleotide polymorphisms (SNPs) in 67 independent breast cancer susceptibility loci recently identified by genome-wide association studies (GWASs) conducted primarily in European-ancestry populations. SNPs in 31 loci showed an association with breast cancer risk at P 0.05 in a direction consistent with that reported previously. Twenty-one of them remained statistically significant after adjusting for multiple comparisons with the Bonferroni-corrected significance level of 0.0015. Eight of the 70 SNPs showed a significantly different association with breast cancer risk by estrogen receptor (ER) status at P 0.05. With the exception of rs2046210 at 6q25.1, the seven other SNPs showed a stronger association with ER-positive than ER-negative cancer. This study replicated all five genetic risk variants initially identified in Asians and provided evidence for associations of breast cancer risk in the East Asian population with nearly half of the genetic risk variants initially reported in GWASs conducted in European descendants. Taken together, these common genetic risk variants explain 10 of excess familial risk of breast cancer in Asian populations.

引用

页码：2539 / 2550

页数：12

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