File Download
 
Links for fulltext
(May Require Subscription)
 
Supplementary

Article: Replication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestry
  • Basic View
  • Metadata View
  • XML View
TitleReplication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestry
 
AuthorsCai, Q3
Wen, W3
Qu, S3
Li, G3
Egan, KM15
Chen, K21
Deming, SL3
Shen, H7
Shen, CY22
Gammon, MD20
Blot, WJ3 11
Matsuo, K6
Haiman, CA13
Khoo, US1
Iwasaki, M16
Santella, RM12
Zhang, L21
Fair, AM2
Hu, Z7
Wu, PE22
Signorello, LB3 11
TitusErnstoff, L17
Tajima, K6
Henderson, BE13
Chan, KYK1
Kasuga, Y5
Newcomb, PA8 14
Zheng, H21
Cui, Y2
Wang, F7
Shieh, YL22
Iwata, H6
Le Marchand, L10
Chan, SY1
Shrubsole, MJ3
TrenthamDietz, A8 9
Tsugane, S16
GarciaClosas, M4
Long, J3
Li, C3
Shi, J3
Huang, B3
Xiang, YB18
Gao, YT18
Lu, W19
Shu, XO3
Zheng, W3
 
Issue Date2011
 
PublisherAmerican Association for Cancer Research. The Journal's web site is located at http://cancerres.aacrjournals.org/
 
CitationCancer Research, 2011, v. 71 n. 4, p. 1344-1355 [How to Cite?]
DOI: http://dx.doi.org/10.1158/0008-5472.CAN-10-2733
 
AbstractWe evaluated the generalizability of a single nucleotide polymorphism (SNP), rs2046210 (A/G allele), associated with breast cancer risk that was initially identified at 6q25.1 in a genome-wide association study conducted among Chinese women. In a pooled analysis of more than 31,000 women of East-Asian, European, and African ancestry, we found a positive association for rs2046210 and breast cancer risk in Chinesewomen [ORs (95% CI) = 1.30 (1.22-1.38) and 1.64 (1.50-1.80) for the AG and AA genotypes, respectively, P for trend = 1.54 × 10 -30], Japanese women [ORs (95% CI) = 1.31 (1.13-1.52) and 1.37 (1.06-1.76), P for trend = 2.51 × 10 -4], and European-ancestry American women [ORs (95% CI) = 1.07 (0.99-1.16) and 1.18 (1.04-1.34), P for trend = 0.0069]. No association with this SNP, however, was observed in African American women [ORs (95% CI) = 0.81 (0.63-1.06) and 0.85 (0.65-1.11) for the AG and AA genotypes, respectively, P for trend = 0.4027]. In vitro functional genomic studies identified a putative functional variant, rs6913578. This SNP is 1,440 bp downstream of rs2046210 and is in high linkage disequilibrium with rs2046210 in Chinese (r 2 = 0.91) and European-ancestry (r 2 = 0.83) populations, but not in Africans (r 2 = 0.57). SNP rs6913578 was found to be associated with breast cancer risk in Chinese and European-ancestry American women. After adjusting for rs2046210, the association of rs6913578 with breast cancer risk in African Americans approached borderline significance. Results from this large consortium study confirmed the association of rs2046210 with breast cancer risk among women of Chinese, Japanese, and European ancestry. This association may be explained in part by a putatively functional variant (rs6913578) identified in the region. ©2011 AACR.
 
ISSN0008-5472
2013 Impact Factor: 9.284
2013 SCImago Journal Rankings: 5.627
 
DOIhttp://dx.doi.org/10.1158/0008-5472.CAN-10-2733
 
PubMed Central IDPMC3083305
 
ISI Accession Number IDWOS:000287352600017
Funding AgencyGrant Number
US NIHR01CA124558
Vanderbilt-Ingram Cancer CenterP30CA68485
Shanghai Breast Cancer StudyR01CA64277
Nashville Breast Health StudyR01CA100374
Shanghai Breast Cancer Survival StudyR01CA118229
Shanghai Endometrial Cancer StudyR01CA92585
National Natural Science Foundation of China30771844
Nanjing Study, ChinaIRT0631
Taiwan Biobank StudDOH97-01
Hong Kong Study (Research Grant Council, Hong Kong SAR, China)HKU 7520/05M
76730M
Nagoya study (Ministry of Education, Culture, Sports, Science, and Technology of Japan)17015052
Ministry of Health, Labor and Welfare of JapanH20-002
Multiethnic Cohort StudyCA63464
CA54281
CA132839
Nagano Breast Cancer Study (Ministry of Education, Culture, Sports, Science, and Technology of Japan)17015049
Collaborative Breast Cancer Study including MassachusettsR01CA47305
WisconsinR01 CA47147
New Hampshire centersR01CA69664
Long Island Breast Cancer Study ProjectU01CA/ES66572
P30ES009089
P30ES010126
Southern Community Cohort StudyR01CA092447
Funding Information:

This research was supported by US NIH grant R01CA124558. The genotyping assays conducted at Vanderbilt University were done at the Survey and Biospecimen Core, which is supported in part by the Vanderbilt-Ingram Cancer Center (P30CA68485). Participating studies (Principal Investigator, grant support) of the consortium are as follows: the Shanghai Breast Cancer Study (W. Zheng, R01CA64277), the Nashville Breast Health Study (W. Zheng, R01CA100374), the Shanghai Breast Cancer Survival Study (X.O. Shu, R01CA118229), the Shanghai Endometrial Cancer Study (X.O. Shu, R01CA92585, contributed only controls to the consortium), the Tianjin Study (K. Chen, the National Natural Science Foundation of China Grant No. 30771844), the Nanjing Study (H. Shen, IRT0631, China), the Taiwan Biobank Study (C.-Y. Shen, DOH97-01), the Hong Kong Study (U.S. Khoo, Research Grant Council, Hong Kong SAR, China, HKU 7520/05M and 76730M), the Nagoya study (K. Tajima, Grants-in-Aid for Scientific Research on Priority Areas (17015052) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan; H. Tanaka, 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), the Multiethnic Cohort Study (B. E. Henderson, CA63464; L. Kolonel, CA54281; and C.A. Haiman, CA132839), the Nagano Breast Cancer Study [S. Tsugane, Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, and for Scientific Research on Priority Areas (17015049) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan], the Collaborative Breast Cancer Study including Massachusetts (K.M. Egan, R01CA47305), Wisconsin (P.A. Newcomb, R01 CA47147) and New Hampshire (L. Titus-Ernstoff, R01CA69664) centers, the Long Island Breast Cancer Study Project (M. D. Gammon, U01CA/ES66572; R.M. Santella, P30ES009089; J.A. Swenberg, P30ES010126), and the Southern Community Cohort Study (W.J. Blot, R01CA092447). The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding agencies.

 
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.authorWen, W
 
dc.contributor.authorQu, S
 
dc.contributor.authorLi, G
 
dc.contributor.authorEgan, KM
 
dc.contributor.authorChen, K
 
dc.contributor.authorDeming, SL
 
dc.contributor.authorShen, H
 
dc.contributor.authorShen, CY
 
dc.contributor.authorGammon, MD
 
dc.contributor.authorBlot, WJ
 
dc.contributor.authorMatsuo, K
 
dc.contributor.authorHaiman, CA
 
dc.contributor.authorKhoo, US
 
dc.contributor.authorIwasaki, M
 
dc.contributor.authorSantella, RM
 
dc.contributor.authorZhang, L
 
dc.contributor.authorFair, AM
 
dc.contributor.authorHu, Z
 
dc.contributor.authorWu, PE
 
dc.contributor.authorSignorello, LB
 
dc.contributor.authorTitusErnstoff, L
 
dc.contributor.authorTajima, K
 
dc.contributor.authorHenderson, BE
 
dc.contributor.authorChan, KYK
 
dc.contributor.authorKasuga, Y
 
dc.contributor.authorNewcomb, PA
 
dc.contributor.authorZheng, H
 
dc.contributor.authorCui, Y
 
dc.contributor.authorWang, F
 
dc.contributor.authorShieh, YL
 
dc.contributor.authorIwata, H
 
dc.contributor.authorLe Marchand, L
 
dc.contributor.authorChan, SY
 
dc.contributor.authorShrubsole, MJ
 
dc.contributor.authorTrenthamDietz, A
 
dc.contributor.authorTsugane, S
 
dc.contributor.authorGarciaClosas, M
 
dc.contributor.authorLong, J
 
dc.contributor.authorLi, C
 
dc.contributor.authorShi, J
 
dc.contributor.authorHuang, B
 
dc.contributor.authorXiang, YB
 
dc.contributor.authorGao, YT
 
dc.contributor.authorLu, W
 
dc.contributor.authorShu, XO
 
dc.contributor.authorZheng, W
 
dc.date.accessioned2011-08-26T14:29:57Z
 
dc.date.available2011-08-26T14:29:57Z
 
dc.date.issued2011
 
dc.description.abstractWe evaluated the generalizability of a single nucleotide polymorphism (SNP), rs2046210 (A/G allele), associated with breast cancer risk that was initially identified at 6q25.1 in a genome-wide association study conducted among Chinese women. In a pooled analysis of more than 31,000 women of East-Asian, European, and African ancestry, we found a positive association for rs2046210 and breast cancer risk in Chinesewomen [ORs (95% CI) = 1.30 (1.22-1.38) and 1.64 (1.50-1.80) for the AG and AA genotypes, respectively, P for trend = 1.54 × 10 -30], Japanese women [ORs (95% CI) = 1.31 (1.13-1.52) and 1.37 (1.06-1.76), P for trend = 2.51 × 10 -4], and European-ancestry American women [ORs (95% CI) = 1.07 (0.99-1.16) and 1.18 (1.04-1.34), P for trend = 0.0069]. No association with this SNP, however, was observed in African American women [ORs (95% CI) = 0.81 (0.63-1.06) and 0.85 (0.65-1.11) for the AG and AA genotypes, respectively, P for trend = 0.4027]. In vitro functional genomic studies identified a putative functional variant, rs6913578. This SNP is 1,440 bp downstream of rs2046210 and is in high linkage disequilibrium with rs2046210 in Chinese (r 2 = 0.91) and European-ancestry (r 2 = 0.83) populations, but not in Africans (r 2 = 0.57). SNP rs6913578 was found to be associated with breast cancer risk in Chinese and European-ancestry American women. After adjusting for rs2046210, the association of rs6913578 with breast cancer risk in African Americans approached borderline significance. Results from this large consortium study confirmed the association of rs2046210 with breast cancer risk among women of Chinese, Japanese, and European ancestry. This association may be explained in part by a putatively functional variant (rs6913578) identified in the region. ©2011 AACR.
 
dc.description.naturelink_to_OA_fulltext
 
dc.identifier.citationCancer Research, 2011, v. 71 n. 4, p. 1344-1355 [How to Cite?]
DOI: http://dx.doi.org/10.1158/0008-5472.CAN-10-2733
 
dc.identifier.doihttp://dx.doi.org/10.1158/0008-5472.CAN-10-2733
 
dc.identifier.eissn1538-7445
 
dc.identifier.epage1355
 
dc.identifier.hkuros191720
 
dc.identifier.isiWOS:000287352600017
Funding AgencyGrant Number
US NIHR01CA124558
Vanderbilt-Ingram Cancer CenterP30CA68485
Shanghai Breast Cancer StudyR01CA64277
Nashville Breast Health StudyR01CA100374
Shanghai Breast Cancer Survival StudyR01CA118229
Shanghai Endometrial Cancer StudyR01CA92585
National Natural Science Foundation of China30771844
Nanjing Study, ChinaIRT0631
Taiwan Biobank StudDOH97-01
Hong Kong Study (Research Grant Council, Hong Kong SAR, China)HKU 7520/05M
76730M
Nagoya study (Ministry of Education, Culture, Sports, Science, and Technology of Japan)17015052
Ministry of Health, Labor and Welfare of JapanH20-002
Multiethnic Cohort StudyCA63464
CA54281
CA132839
Nagano Breast Cancer Study (Ministry of Education, Culture, Sports, Science, and Technology of Japan)17015049
Collaborative Breast Cancer Study including MassachusettsR01CA47305
WisconsinR01 CA47147
New Hampshire centersR01CA69664
Long Island Breast Cancer Study ProjectU01CA/ES66572
P30ES009089
P30ES010126
Southern Community Cohort StudyR01CA092447
Funding Information:

This research was supported by US NIH grant R01CA124558. The genotyping assays conducted at Vanderbilt University were done at the Survey and Biospecimen Core, which is supported in part by the Vanderbilt-Ingram Cancer Center (P30CA68485). Participating studies (Principal Investigator, grant support) of the consortium are as follows: the Shanghai Breast Cancer Study (W. Zheng, R01CA64277), the Nashville Breast Health Study (W. Zheng, R01CA100374), the Shanghai Breast Cancer Survival Study (X.O. Shu, R01CA118229), the Shanghai Endometrial Cancer Study (X.O. Shu, R01CA92585, contributed only controls to the consortium), the Tianjin Study (K. Chen, the National Natural Science Foundation of China Grant No. 30771844), the Nanjing Study (H. Shen, IRT0631, China), the Taiwan Biobank Study (C.-Y. Shen, DOH97-01), the Hong Kong Study (U.S. Khoo, Research Grant Council, Hong Kong SAR, China, HKU 7520/05M and 76730M), the Nagoya study (K. Tajima, Grants-in-Aid for Scientific Research on Priority Areas (17015052) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan; H. Tanaka, 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), the Multiethnic Cohort Study (B. E. Henderson, CA63464; L. Kolonel, CA54281; and C.A. Haiman, CA132839), the Nagano Breast Cancer Study [S. Tsugane, Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, and for Scientific Research on Priority Areas (17015049) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan], the Collaborative Breast Cancer Study including Massachusetts (K.M. Egan, R01CA47305), Wisconsin (P.A. Newcomb, R01 CA47147) and New Hampshire (L. Titus-Ernstoff, R01CA69664) centers, the Long Island Breast Cancer Study Project (M. D. Gammon, U01CA/ES66572; R.M. Santella, P30ES009089; J.A. Swenberg, P30ES010126), and the Southern Community Cohort Study (W.J. Blot, R01CA092447). The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding agencies.

 
dc.identifier.issn0008-5472
2013 Impact Factor: 9.284
2013 SCImago Journal Rankings: 5.627
 
dc.identifier.issue4
 
dc.identifier.pmcidPMC3083305
 
dc.identifier.pmid21303983
 
dc.identifier.scopuseid_2-s2.0-79951841312
 
dc.identifier.spage1344
 
dc.identifier.urihttp://hdl.handle.net/10722/137635
 
dc.identifier.volume71
 
dc.languageeng
 
dc.publisherAmerican Association for Cancer Research. The Journal's web site is located at http://cancerres.aacrjournals.org/
 
dc.publisher.placeUnited States
 
dc.relation.ispartofCancer Research
 
dc.relation.projectGene-based and haplotype analysis of the estrogen receptor genes for breast cancer susceptibility
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAsian Continental Ancestry Group - genetics
 
dc.subject.meshBreast Neoplasms - epidemiology - ethnology - genetics
 
dc.subject.meshCarcinoma - epidemiology - ethnology - genetics
 
dc.subject.meshChromosomes, Human, Pair 6 - genetics
 
dc.subject.meshEuropean Continental Ancestry Group - genetics
 
dc.titleReplication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestry
 
dc.typeArticle
 
<?xml encoding="utf-8" version="1.0"?>
<item><contributor.author>Cai, Q</contributor.author>
<contributor.author>Wen, W</contributor.author>
<contributor.author>Qu, S</contributor.author>
<contributor.author>Li, G</contributor.author>
<contributor.author>Egan, KM</contributor.author>
<contributor.author>Chen, K</contributor.author>
<contributor.author>Deming, SL</contributor.author>
<contributor.author>Shen, H</contributor.author>
<contributor.author>Shen, CY</contributor.author>
<contributor.author>Gammon, MD</contributor.author>
<contributor.author>Blot, WJ</contributor.author>
<contributor.author>Matsuo, K</contributor.author>
<contributor.author>Haiman, CA</contributor.author>
<contributor.author>Khoo, US</contributor.author>
<contributor.author>Iwasaki, M</contributor.author>
<contributor.author>Santella, RM</contributor.author>
<contributor.author>Zhang, L</contributor.author>
<contributor.author>Fair, AM</contributor.author>
<contributor.author>Hu, Z</contributor.author>
<contributor.author>Wu, PE</contributor.author>
<contributor.author>Signorello, LB</contributor.author>
<contributor.author>TitusErnstoff, L</contributor.author>
<contributor.author>Tajima, K</contributor.author>
<contributor.author>Henderson, BE</contributor.author>
<contributor.author>Chan, KYK</contributor.author>
<contributor.author>Kasuga, Y</contributor.author>
<contributor.author>Newcomb, PA</contributor.author>
<contributor.author>Zheng, H</contributor.author>
<contributor.author>Cui, Y</contributor.author>
<contributor.author>Wang, F</contributor.author>
<contributor.author>Shieh, YL</contributor.author>
<contributor.author>Iwata, H</contributor.author>
<contributor.author>Le Marchand, L</contributor.author>
<contributor.author>Chan, SY</contributor.author>
<contributor.author>Shrubsole, MJ</contributor.author>
<contributor.author>TrenthamDietz, A</contributor.author>
<contributor.author>Tsugane, S</contributor.author>
<contributor.author>GarciaClosas, M</contributor.author>
<contributor.author>Long, J</contributor.author>
<contributor.author>Li, C</contributor.author>
<contributor.author>Shi, J</contributor.author>
<contributor.author>Huang, B</contributor.author>
<contributor.author>Xiang, YB</contributor.author>
<contributor.author>Gao, YT</contributor.author>
<contributor.author>Lu, W</contributor.author>
<contributor.author>Shu, XO</contributor.author>
<contributor.author>Zheng, W</contributor.author>
<date.accessioned>2011-08-26T14:29:57Z</date.accessioned>
<date.available>2011-08-26T14:29:57Z</date.available>
<date.issued>2011</date.issued>
<identifier.citation>Cancer Research, 2011, v. 71 n. 4, p. 1344-1355</identifier.citation>
<identifier.issn>0008-5472</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/137635</identifier.uri>
<description.abstract>We evaluated the generalizability of a single nucleotide polymorphism (SNP), rs2046210 (A/G allele), associated with breast cancer risk that was initially identified at 6q25.1 in a genome-wide association study conducted among Chinese women. In a pooled analysis of more than 31,000 women of East-Asian, European, and African ancestry, we found a positive association for rs2046210 and breast cancer risk in Chinesewomen [ORs (95% CI) = 1.30 (1.22-1.38) and 1.64 (1.50-1.80) for the AG and AA genotypes, respectively, P for trend = 1.54 &#215; 10 -30], Japanese women [ORs (95% CI) = 1.31 (1.13-1.52) and 1.37 (1.06-1.76), P for trend = 2.51 &#215; 10 -4], and European-ancestry American women [ORs (95% CI) = 1.07 (0.99-1.16) and 1.18 (1.04-1.34), P for trend = 0.0069]. No association with this SNP, however, was observed in African American women [ORs (95% CI) = 0.81 (0.63-1.06) and 0.85 (0.65-1.11) for the AG and AA genotypes, respectively, P for trend = 0.4027]. In vitro functional genomic studies identified a putative functional variant, rs6913578. This SNP is 1,440 bp downstream of rs2046210 and is in high linkage disequilibrium with rs2046210 in Chinese (r 2 = 0.91) and European-ancestry (r 2 = 0.83) populations, but not in Africans (r 2 = 0.57). SNP rs6913578 was found to be associated with breast cancer risk in Chinese and European-ancestry American women. After adjusting for rs2046210, the association of rs6913578 with breast cancer risk in African Americans approached borderline significance. Results from this large consortium study confirmed the association of rs2046210 with breast cancer risk among women of Chinese, Japanese, and European ancestry. This association may be explained in part by a putatively functional variant (rs6913578) identified in the region. &#169;2011 AACR.</description.abstract>
<language>eng</language>
<publisher>American Association for Cancer Research. The Journal&apos;s web site is located at http://cancerres.aacrjournals.org/</publisher>
<relation.ispartof>Cancer Research</relation.ispartof>
<subject.mesh>Asian Continental Ancestry Group - genetics</subject.mesh>
<subject.mesh>Breast Neoplasms - epidemiology - ethnology - genetics</subject.mesh>
<subject.mesh>Carcinoma - epidemiology - ethnology - genetics</subject.mesh>
<subject.mesh>Chromosomes, Human, Pair 6 - genetics</subject.mesh>
<subject.mesh>European Continental Ancestry Group - genetics</subject.mesh>
<title>Replication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestry</title>
<type>Article</type>
<description.nature>link_to_OA_fulltext</description.nature>
<identifier.doi>10.1158/0008-5472.CAN-10-2733</identifier.doi>
<identifier.pmid>21303983</identifier.pmid>
<identifier.pmcid>PMC3083305</identifier.pmcid>
<identifier.scopus>eid_2-s2.0-79951841312</identifier.scopus>
<identifier.hkuros>191720</identifier.hkuros>
<relation.references>http://www.scopus.com/mlt/select.url?eid=2-s2.0-79951841312&amp;selection=ref&amp;src=s&amp;origin=recordpage</relation.references>
<identifier.volume>71</identifier.volume>
<identifier.issue>4</identifier.issue>
<identifier.spage>1344</identifier.spage>
<identifier.epage>1355</identifier.epage>
<identifier.eissn>1538-7445</identifier.eissn>
<identifier.isi>WOS:000287352600017</identifier.isi>
<publisher.place>United States</publisher.place>
<relation.project>Gene-based and haplotype analysis of the estrogen receptor genes for breast cancer susceptibility</relation.project>
<bitstream.url>http://hub.hku.hk/bitstream/10722/137635/1/re01.htm</bitstream.url>
</item>
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Meharry Medical College
  3. Vanderbilt Ingram Cancer Center
  4. National Cancer Institute
  5. Nagano Matsushiro General Hospital
  6. Aichi Cancer Center Hospital and Research Institute
  7. Nanjing Medical University
  8. Paul P. Carbone Comprehensive Cancer Center
  9. University of Wisconsin Madison
  10. University of Hawaii at Manoa
  11. International Epidemiology Institute
  12. Columbia University Medical Center
  13. Keck School of Medicine of USC
  14. Fred Hutchinson Cancer Research Center
  15. H. Lee Moffitt Cancer Center and Research Institute
  16. National Cancer Center Tokyo
  17. Norris Cotton Cancer Center
  18. null
  19. Shanghai Center for Disease Control and Prevention
  20. The University of North Carolina at Chapel Hill
  21. Tianjin Medical University
  22. Institute of Biomedical Sciences Academia Sinica Taiwan