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Article: Genome-wide association study identifies breast cancer risk variant at 10q21.2: Results from the asia breast cancer consortium
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TitleGenome-wide association study identifies breast cancer risk variant at 10q21.2: Results from the asia breast cancer consortium
 
AuthorsCai, Q2
Long, J2
Lu, W3
Qu, S2
Wen, W2
Kang, D7 7 7
Lee, JY7
Chen, K18
Shen, H10
Shen, C19
Sung, H7
Matsuo, K8
Haiman, CA20
Khoo, US1
Ren, Z12
Iwasaki, M15
Gu, K3
Xiang, YB16
Choi, JY7
Park, SK7 7 7
Zhang, L18
Hu, Z10
Wu, PE19
Noh, D7 7
Tajima, K8
Henderson, BE20
Chan, KY1
Su, F12
Kasuga, Y6
Wang, W3
Cheng, JR16
Yoo, KY7
Lee, JY17
Zheng, H18
Liu, Y10
Shieh, YL19
Kim, SW5
Lee, JW13
Iwata, H8
Marchand, LL11
Chan, SY1
Xie, X12
Tsugane, S15
Lee, MH9
Wang, S12
Li, G2
Levy, S4
Huang, B2
Shi, J2
Delahanty, R2
Zheng, Y3
Li, C14
Gao, YT16
Shu, XO2
Zheng, W2
 
Issue Date2011
 
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
 
CitationHuman Molecular Genetics, 2011, v. 20 n. 24, p. 4991-4999 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/ddr405
 
AbstractAlthough approximately 20 common genetic susceptibility loci have been identified for breast cancer risk through genome-wide association studies (GWASs), genetic risk variants reported to date explain only a small fraction of heritability for this common cancer. We conducted a four-stage GWAS including 17 153 cases and 16 943 controls among East-Asian women to search for new genetic risk factors for breast cancer. After analyzing 684 457 SNPs in 2062 cases and 2066 controls (Stage I), we selected for replication among 5969 Chinese women (4146 cases and 1823 controls) the top 49 SNPs that had neither been reported previously nor were in strong linkage disequilibrium with reported SNPs (Stage II). Three SNPs were further evaluated in up to 13 152 Chinese and Japanese women (6436 cases and 6716 controls) (Stage III). Finally, two SNPs were evaluated in 10 847 Korean women (4509 cases and 6338 controls) (Stage IV). SNP rs10822013 on chromosome 10q21.2, located in the zinc finger protein 365 (ZNF365) gene, showed a consistent association with breast cancer risk in all four stages with a combined per-risk allele odds ratio of 1.10 (95% CI: 1.07-1.14) (P-value for trend = 5.87 × 10 -9). In vitro electrophoretic mobility shift assays demonstrated the potential functional significance of rs10822013. Our results strongly implicate rs10822013 at 10q21.2 as a genetic risk variant for breast cancer among East-Asian women. © The Author 2011. Published by Oxford University Press. All rights reserved.
 
ISSN0964-6906
2012 Impact Factor: 7.692
2012 SCImago Journal Rankings: 4.103
 
DOIhttp://dx.doi.org/10.1093/hmg/ddr405
 
ISI Accession Number IDWOS:000297242100018
Funding AgencyGrant Number
US National Institutes of HealthR01CA124558
R01CA064277
R37CA070867
R01CA090899
R01CA100374
Ingram Professorship
Research Reward funds
Department of Defense (DOD)BC011118
BC050791
Shanghai Breast Cancer StudyR01CA064277
Shanghai Breast Cancer Survival StudyR01CA118229
Shanghai Endometrial Cancer StudyR01CA092585
Seoul Breast Cancer Study (Basic Research Laboratory (BRL)) through the National Research Foundation of Korea
Ministry of Education, Science and Technology2011-0001564
Korean Hereditary Breast Cancer Study/Korean Genome and Epidemiology Study (Ministry for Health, Welfare and Family Affairs, Republic of Korea)1020350
Tianjin Study (National Natural Science Foundation of China)30771844
Nanjing Study (Jiangsu, China)09KJA330001
Taiwan Biobank StudyDOH97-01
Hong Kong Study (Research Grant Council, Hong Kong SAR, China)HKU 7520/05M
76730M
Guangzhou Breast Cancer Study (National Natural Science Foundation of China)81072383
Multiethnic Cohort StudyCA063464
CA054281
CA132839
Nagano Breast Cancer Study (Ministry of Health, Labor and Welfare of Japan)17015049
H20-002
Nagano Breast Cancer Study (Ministry of Education, Culture, Sports, Science, and Technology of Japan)221S0001
Vanderbilt-Ingram Cancer CenterP30 CA068485
R01CA122756
Funding Information:

This research was supported in part by US National Institutes of Health grants R01CA124558, R01CA064277, R37CA070867, R01CA090899 and R01CA100374, as well as Ingram Professorship and Research Reward funds awarded to W.Z.; R01CA118229, R01CA092585, and Department of Defense (DOD) Idea Award BC011118 awarded to X.-O.S.; and R01CA122756 and DOD Idea Award BC050791 awarded to Q. C. Participating studies (principal investigator, grant support) in the consortium are as follows: the Shanghai Breast Cancer Study (W.Z., R01CA064277), the Shanghai Breast Cancer Survival Study (X.-O.S., R01CA118229), the Shanghai Endometrial Cancer Study (X.-O.S., R01CA092585, contributed only controls to the consortium), the Seoul Breast Cancer Study [D. K., Basic Research Laboratory (BRL) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology, 2011-0001564], the Korean Hereditary Breast Cancer Study/Korean Genome and Epidemiology Study (S.-W.K., the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family Affairs, Republic of Korea, 1020350), the Tianjin Study (K. C., the National Natural Science Foundation of China Grant No. 30771844), the Nanjing Study (H. S., 09KJA330001, Jiangsu, China), the Taiwan Biobank Study (C.-Y.S., DOH97-01), the Hong Kong Study (U.S.K., Research Grant Council, Hong Kong SAR, China, HKU 7520/05M and 76730M), the Guangzhou Breast Cancer Study (Z.R., the National Natural Science Foundation of China, 81072383), the Multiethnic Cohort Study (B. E. H., CA063464; L. K., CA054281; and C. H., CA132839), the Nagano Breast Cancer Study (S. T., Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, for Scientific Research on Priority Areas, 17015049 and for Scientific Research on Innovative Areas, 221S0001, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan) and the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (K. T., Grants-in-Aid for Scientific Research on Priority Areas, 17015052, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan H. T., Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, H20-002). Sample preparation and genotyping assays at Vanderbilt were conducted at the Survey and Biospecimen Shared Resources and Vanderbilt Microarray Shared Resource, which are supported in part by Vanderbilt-Ingram Cancer Center (P30 CA068485).

 
ReferencesReferences in Scopus
 
GrantsGene-based and haplotype analysis of the estrogen receptor genes for breast cancer susceptibility
 
DC FieldValue
dc.contributor.authorCai, Q
 
dc.contributor.authorLong, J
 
dc.contributor.authorLu, W
 
dc.contributor.authorQu, S
 
dc.contributor.authorWen, W
 
dc.contributor.authorKang, D
 
dc.contributor.authorLee, JY
 
dc.contributor.authorChen, K
 
dc.contributor.authorShen, H
 
dc.contributor.authorShen, C
 
dc.contributor.authorSung, H
 
dc.contributor.authorMatsuo, K
 
dc.contributor.authorHaiman, CA
 
dc.contributor.authorKhoo, US
 
dc.contributor.authorRen, Z
 
dc.contributor.authorIwasaki, M
 
dc.contributor.authorGu, K
 
dc.contributor.authorXiang, YB
 
dc.contributor.authorChoi, JY
 
dc.contributor.authorPark, SK
 
dc.contributor.authorZhang, L
 
dc.contributor.authorHu, Z
 
dc.contributor.authorWu, PE
 
dc.contributor.authorNoh, D
 
dc.contributor.authorTajima, K
 
dc.contributor.authorHenderson, BE
 
dc.contributor.authorChan, KY
 
dc.contributor.authorSu, F
 
dc.contributor.authorKasuga, Y
 
dc.contributor.authorWang, W
 
dc.contributor.authorCheng, JR
 
dc.contributor.authorYoo, KY
 
dc.contributor.authorLee, JY
 
dc.contributor.authorZheng, H
 
dc.contributor.authorLiu, Y
 
dc.contributor.authorShieh, YL
 
dc.contributor.authorKim, SW
 
dc.contributor.authorLee, JW
 
dc.contributor.authorIwata, H
 
dc.contributor.authorMarchand, LL
 
dc.contributor.authorChan, SY
 
dc.contributor.authorXie, X
 
dc.contributor.authorTsugane, S
 
dc.contributor.authorLee, MH
 
dc.contributor.authorWang, S
 
dc.contributor.authorLi, G
 
dc.contributor.authorLevy, S
 
dc.contributor.authorHuang, B
 
dc.contributor.authorShi, J
 
dc.contributor.authorDelahanty, R
 
dc.contributor.authorZheng, Y
 
dc.contributor.authorLi, C
 
dc.contributor.authorGao, YT
 
dc.contributor.authorShu, XO
 
dc.contributor.authorZheng, W
 
dc.date.accessioned2012-05-29T06:14:30Z
 
dc.date.available2012-05-29T06:14:30Z
 
dc.date.issued2011
 
dc.description.abstractAlthough approximately 20 common genetic susceptibility loci have been identified for breast cancer risk through genome-wide association studies (GWASs), genetic risk variants reported to date explain only a small fraction of heritability for this common cancer. We conducted a four-stage GWAS including 17 153 cases and 16 943 controls among East-Asian women to search for new genetic risk factors for breast cancer. After analyzing 684 457 SNPs in 2062 cases and 2066 controls (Stage I), we selected for replication among 5969 Chinese women (4146 cases and 1823 controls) the top 49 SNPs that had neither been reported previously nor were in strong linkage disequilibrium with reported SNPs (Stage II). Three SNPs were further evaluated in up to 13 152 Chinese and Japanese women (6436 cases and 6716 controls) (Stage III). Finally, two SNPs were evaluated in 10 847 Korean women (4509 cases and 6338 controls) (Stage IV). SNP rs10822013 on chromosome 10q21.2, located in the zinc finger protein 365 (ZNF365) gene, showed a consistent association with breast cancer risk in all four stages with a combined per-risk allele odds ratio of 1.10 (95% CI: 1.07-1.14) (P-value for trend = 5.87 × 10 -9). In vitro electrophoretic mobility shift assays demonstrated the potential functional significance of rs10822013. Our results strongly implicate rs10822013 at 10q21.2 as a genetic risk variant for breast cancer among East-Asian women. © The Author 2011. Published by Oxford University Press. All rights reserved.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationHuman Molecular Genetics, 2011, v. 20 n. 24, p. 4991-4999 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/ddr405
 
dc.identifier.doihttp://dx.doi.org/10.1093/hmg/ddr405
 
dc.identifier.epage4999
 
dc.identifier.hkuros206656
 
dc.identifier.isiWOS:000297242100018
Funding AgencyGrant Number
US National Institutes of HealthR01CA124558
R01CA064277
R37CA070867
R01CA090899
R01CA100374
Ingram Professorship
Research Reward funds
Department of Defense (DOD)BC011118
BC050791
Shanghai Breast Cancer StudyR01CA064277
Shanghai Breast Cancer Survival StudyR01CA118229
Shanghai Endometrial Cancer StudyR01CA092585
Seoul Breast Cancer Study (Basic Research Laboratory (BRL)) through the National Research Foundation of Korea
Ministry of Education, Science and Technology2011-0001564
Korean Hereditary Breast Cancer Study/Korean Genome and Epidemiology Study (Ministry for Health, Welfare and Family Affairs, Republic of Korea)1020350
Tianjin Study (National Natural Science Foundation of China)30771844
Nanjing Study (Jiangsu, China)09KJA330001
Taiwan Biobank StudyDOH97-01
Hong Kong Study (Research Grant Council, Hong Kong SAR, China)HKU 7520/05M
76730M
Guangzhou Breast Cancer Study (National Natural Science Foundation of China)81072383
Multiethnic Cohort StudyCA063464
CA054281
CA132839
Nagano Breast Cancer Study (Ministry of Health, Labor and Welfare of Japan)17015049
H20-002
Nagano Breast Cancer Study (Ministry of Education, Culture, Sports, Science, and Technology of Japan)221S0001
Vanderbilt-Ingram Cancer CenterP30 CA068485
R01CA122756
Funding Information:

This research was supported in part by US National Institutes of Health grants R01CA124558, R01CA064277, R37CA070867, R01CA090899 and R01CA100374, as well as Ingram Professorship and Research Reward funds awarded to W.Z.; R01CA118229, R01CA092585, and Department of Defense (DOD) Idea Award BC011118 awarded to X.-O.S.; and R01CA122756 and DOD Idea Award BC050791 awarded to Q. C. Participating studies (principal investigator, grant support) in the consortium are as follows: the Shanghai Breast Cancer Study (W.Z., R01CA064277), the Shanghai Breast Cancer Survival Study (X.-O.S., R01CA118229), the Shanghai Endometrial Cancer Study (X.-O.S., R01CA092585, contributed only controls to the consortium), the Seoul Breast Cancer Study [D. K., Basic Research Laboratory (BRL) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology, 2011-0001564], the Korean Hereditary Breast Cancer Study/Korean Genome and Epidemiology Study (S.-W.K., the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family Affairs, Republic of Korea, 1020350), the Tianjin Study (K. C., the National Natural Science Foundation of China Grant No. 30771844), the Nanjing Study (H. S., 09KJA330001, Jiangsu, China), the Taiwan Biobank Study (C.-Y.S., DOH97-01), the Hong Kong Study (U.S.K., Research Grant Council, Hong Kong SAR, China, HKU 7520/05M and 76730M), the Guangzhou Breast Cancer Study (Z.R., the National Natural Science Foundation of China, 81072383), the Multiethnic Cohort Study (B. E. H., CA063464; L. K., CA054281; and C. H., CA132839), the Nagano Breast Cancer Study (S. T., Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, for Scientific Research on Priority Areas, 17015049 and for Scientific Research on Innovative Areas, 221S0001, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan) and the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (K. T., Grants-in-Aid for Scientific Research on Priority Areas, 17015052, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan H. T., Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, H20-002). Sample preparation and genotyping assays at Vanderbilt were conducted at the Survey and Biospecimen Shared Resources and Vanderbilt Microarray Shared Resource, which are supported in part by Vanderbilt-Ingram Cancer Center (P30 CA068485).

 
dc.identifier.issn0964-6906
2012 Impact Factor: 7.692
2012 SCImago Journal Rankings: 4.103
 
dc.identifier.issue24
 
dc.identifier.pmid21908515
 
dc.identifier.scopuseid_2-s2.0-81855226435
 
dc.identifier.spage4991
 
dc.identifier.urihttp://hdl.handle.net/10722/148660
 
dc.identifier.volume20
 
dc.languageeng
 
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofHuman Molecular Genetics
 
dc.relation.projectGene-based and haplotype analysis of the estrogen receptor genes for breast cancer susceptibility
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAdult
 
dc.subject.meshAged
 
dc.subject.meshAlleles
 
dc.subject.meshAsia
 
dc.subject.meshBreast Neoplasms - Genetics
 
dc.subject.meshCell Line, Tumor
 
dc.subject.meshChromosomes, Human, Pair 10 - Genetics
 
dc.subject.meshFemale
 
dc.subject.meshGenetic Predisposition To Disease
 
dc.subject.meshGenome-Wide Association Study
 
dc.subject.meshHumans
 
dc.subject.meshMenopause - Genetics
 
dc.subject.meshMiddle Aged
 
dc.subject.meshOdds Ratio
 
dc.subject.meshPolymorphism, Single Nucleotide - Genetics
 
dc.titleGenome-wide association study identifies breast cancer risk variant at 10q21.2: Results from the asia breast cancer consortium
 
dc.typeArticle
 
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<description.abstract>Although approximately 20 common genetic susceptibility loci have been identified for breast cancer risk through genome-wide association studies (GWASs), genetic risk variants reported to date explain only a small fraction of heritability for this common cancer. We conducted a four-stage GWAS including 17 153 cases and 16 943 controls among East-Asian women to search for new genetic risk factors for breast cancer. After analyzing 684 457 SNPs in 2062 cases and 2066 controls (Stage I), we selected for replication among 5969 Chinese women (4146 cases and 1823 controls) the top 49 SNPs that had neither been reported previously nor were in strong linkage disequilibrium with reported SNPs (Stage II). Three SNPs were further evaluated in up to 13 152 Chinese and Japanese women (6436 cases and 6716 controls) (Stage III). Finally, two SNPs were evaluated in 10 847 Korean women (4509 cases and 6338 controls) (Stage IV). SNP rs10822013 on chromosome 10q21.2, located in the zinc finger protein 365 (ZNF365) gene, showed a consistent association with breast cancer risk in all four stages with a combined per-risk allele odds ratio of 1.10 (95% CI: 1.07-1.14) (P-value for trend = 5.87 &#215; 10 -9). In vitro electrophoretic mobility shift assays demonstrated the potential functional significance of rs10822013. Our results strongly implicate rs10822013 at 10q21.2 as a genetic risk variant for breast cancer among East-Asian women. &#169; The Author 2011. Published by Oxford University Press. All rights reserved.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Vanderbilt Ingram Cancer Center
  3. Shanghai Municipal Center for Disease Control and Prevention
  4. HudsonAlpha Institute for Biotechnology
  5. Seoul National University Bundang Hospital
  6. Nagano Matsushiro General Hospital
  7. Seoul National University, College of Medical Sciences
  8. Aichi Cancer Center Hospital and Research Institute
  9. Soonchunhyang University
  10. Nanjing Medical University
  11. University of Hawaii at Manoa
  12. Sun Yat-Sen University
  13. University of Ulsan, College of Medicine
  14. Vanderbilt University School of Medicine
  15. National Cancer Center Tokyo
  16. null
  17. National Institute of Health, Seoul
  18. Tianjin Medical University
  19. Institute of Biomedical Sciences Academia Sinica Taiwan
  20. University of Southern California/Norris Comprehensive Cancer Center