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Article: Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer
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TitleGenome-wide association study in east Asians identifies novel susceptibility loci for breast cancer
 
AuthorsLong, J3
Cai, Q3
Sung, H8
Shi, J3
Zhang, B3
Choi, JY8
Wen, W3
Delahanty, RJ3
Lu, W1
Gao, YT19
Shen, H10
Park, SK8
Chen, K21
Shen, CY6 22
Ren, Z12
Haiman, CA14
Matsuo, K9
Kim, MK15 4
Khoo, US2
Iwasaki, M18
Zheng, Y1
Xiang, YB19
Gu, K1
Rothman, N5
Wang, W1
Hu, Z10
Liu, Y10
Yoo, KY8
Noh, DY8
Han, BG20
Lee, MH13
Zheng, H21
Zhang, L21
Wu, PE22
Shieh, YL22
Chan, SY16
Wang, S12
Xie, X12
Kim, SW8
Henderson, BE14
Le Marchand, L11
Ito, H9
Kasuga, Y7
Ahn, SH15 4
Kang, HS15 4
Chan, KYK2
Iwata, H9
Tsugane, S18
Li, C17
Shu, XO3
Kang, DH8
Zheng, W3
 
KeywordsAsian
Breast cancer
Cancer risk
Cancer staging
Chinese
 
Issue Date2012
 
PublisherPublic Library of Science. The Journal's web site is located at http://www.plosgenetics.org/
 
CitationPLoS Genetics, 2012, v. 8 n. 2, article no. e1002532 [How to Cite?]
DOI: http://dx.doi.org/10.1371/journal.pgen.1002532
 
AbstractGenetic factors play an important role in the etiology of both sporadic and familial breast cancer. We aimed to discover novel genetic susceptibility loci for breast cancer. We conducted a four-stage genome-wide association study (GWAS) in 19,091 cases and 20,606 controls of East-Asian descent including Chinese, Korean, and Japanese women. After analyzing 690,947 SNPs in 2,918 cases and 2,324 controls, we evaluated 5,365 SNPs for replication in 3,972 cases and 3,852 controls. Ninety-four SNPs were further evaluated in 5,203 cases and 5,138 controls, and finally the top 22 SNPs were investigated in up to 17,423 additional subjects (7,489 cases and 9,934 controls). SNP rs9485372, near the TGF-beta activated kinase (TAB2) gene in chromosome 6q25.1, showed a consistent association with breast cancer risk across all four stages, with a P-value of 3.8x10(-12) in the combined analysis of all samples. Adjusted odds ratios (95% confidence intervals) were 0.89 (0.85-0.94) and 0.80 (0.75-0.86) for the A/G and A/A genotypes, respectively, compared with the genotype G/G. SNP rs9383951 (P = 1.9x10(-6) from the combined analysis of all samples), located in intron 5 of the ESR1 gene, and SNP rs7107217 (P = 4.6x10(-7)), located at 11q24.3, also showed a consistent association in each of the four stages. This study provides strong evidence for a novel breast cancer susceptibility locus represented by rs9485372, near the TAB2 gene (6q25.1), and identifies two possible susceptibility loci located in the ESR1 gene and 11q24.3, respectively.
 
ISSN1553-7390
 
DOIhttp://dx.doi.org/10.1371/journal.pgen.1002532
 
PubMed Central IDPMC3285588
 
DC FieldValue
dc.contributor.authorLong, J
 
dc.contributor.authorCai, Q
 
dc.contributor.authorSung, H
 
dc.contributor.authorShi, J
 
dc.contributor.authorZhang, B
 
dc.contributor.authorChoi, JY
 
dc.contributor.authorWen, W
 
dc.contributor.authorDelahanty, RJ
 
dc.contributor.authorLu, W
 
dc.contributor.authorGao, YT
 
dc.contributor.authorShen, H
 
dc.contributor.authorPark, SK
 
dc.contributor.authorChen, K
 
dc.contributor.authorShen, CY
 
dc.contributor.authorRen, Z
 
dc.contributor.authorHaiman, CA
 
dc.contributor.authorMatsuo, K
 
dc.contributor.authorKim, MK
 
dc.contributor.authorKhoo, US
 
dc.contributor.authorIwasaki, M
 
dc.contributor.authorZheng, Y
 
dc.contributor.authorXiang, YB
 
dc.contributor.authorGu, K
 
dc.contributor.authorRothman, N
 
dc.contributor.authorWang, W
 
dc.contributor.authorHu, Z
 
dc.contributor.authorLiu, Y
 
dc.contributor.authorYoo, KY
 
dc.contributor.authorNoh, DY
 
dc.contributor.authorHan, BG
 
dc.contributor.authorLee, MH
 
dc.contributor.authorZheng, H
 
dc.contributor.authorZhang, L
 
dc.contributor.authorWu, PE
 
dc.contributor.authorShieh, YL
 
dc.contributor.authorChan, SY
 
dc.contributor.authorWang, S
 
dc.contributor.authorXie, X
 
dc.contributor.authorKim, SW
 
dc.contributor.authorHenderson, BE
 
dc.contributor.authorLe Marchand, L
 
dc.contributor.authorIto, H
 
dc.contributor.authorKasuga, Y
 
dc.contributor.authorAhn, SH
 
dc.contributor.authorKang, HS
 
dc.contributor.authorChan, KYK
 
dc.contributor.authorIwata, H
 
dc.contributor.authorTsugane, S
 
dc.contributor.authorLi, C
 
dc.contributor.authorShu, XO
 
dc.contributor.authorKang, DH
 
dc.contributor.authorZheng, W
 
dc.date.accessioned2012-09-20T08:10:04Z
 
dc.date.available2012-09-20T08:10:04Z
 
dc.date.issued2012
 
dc.description.abstractGenetic factors play an important role in the etiology of both sporadic and familial breast cancer. We aimed to discover novel genetic susceptibility loci for breast cancer. We conducted a four-stage genome-wide association study (GWAS) in 19,091 cases and 20,606 controls of East-Asian descent including Chinese, Korean, and Japanese women. After analyzing 690,947 SNPs in 2,918 cases and 2,324 controls, we evaluated 5,365 SNPs for replication in 3,972 cases and 3,852 controls. Ninety-four SNPs were further evaluated in 5,203 cases and 5,138 controls, and finally the top 22 SNPs were investigated in up to 17,423 additional subjects (7,489 cases and 9,934 controls). SNP rs9485372, near the TGF-beta activated kinase (TAB2) gene in chromosome 6q25.1, showed a consistent association with breast cancer risk across all four stages, with a P-value of 3.8x10(-12) in the combined analysis of all samples. Adjusted odds ratios (95% confidence intervals) were 0.89 (0.85-0.94) and 0.80 (0.75-0.86) for the A/G and A/A genotypes, respectively, compared with the genotype G/G. SNP rs9383951 (P = 1.9x10(-6) from the combined analysis of all samples), located in intron 5 of the ESR1 gene, and SNP rs7107217 (P = 4.6x10(-7)), located at 11q24.3, also showed a consistent association in each of the four stages. This study provides strong evidence for a novel breast cancer susceptibility locus represented by rs9485372, near the TAB2 gene (6q25.1), and identifies two possible susceptibility loci located in the ESR1 gene and 11q24.3, respectively.
 
dc.description.naturepublished_or_final_version
 
dc.identifier.citationPLoS Genetics, 2012, v. 8 n. 2, article no. e1002532 [How to Cite?]
DOI: http://dx.doi.org/10.1371/journal.pgen.1002532
 
dc.identifier.citeulike10382027
 
dc.identifier.doihttp://dx.doi.org/10.1371/journal.pgen.1002532
 
dc.identifier.hkuros206663
 
dc.identifier.issn1553-7390
 
dc.identifier.issue2, article no. e1002532
 
dc.identifier.openurl
 
dc.identifier.pmcidPMC3285588
 
dc.identifier.pmid22383897
 
dc.identifier.scopuseid_2-s2.0-84859197861
 
dc.identifier.urihttp://hdl.handle.net/10722/164808
 
dc.identifier.volume8
 
dc.languageeng
 
dc.publisherPublic Library of Science. The Journal's web site is located at http://www.plosgenetics.org/
 
dc.publisher.placeUnited States
 
dc.relation.ispartofPLoS Genetics
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
 
dc.subjectAsian
 
dc.subjectBreast cancer
 
dc.subjectCancer risk
 
dc.subjectCancer staging
 
dc.subjectChinese
 
dc.titleGenome-wide association study in east Asians identifies novel susceptibility loci for breast cancer
 
dc.typeArticle
 
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<contributor.author>Zhang, B</contributor.author>
<contributor.author>Choi, JY</contributor.author>
<contributor.author>Wen, W</contributor.author>
<contributor.author>Delahanty, RJ</contributor.author>
<contributor.author>Lu, W</contributor.author>
<contributor.author>Gao, YT</contributor.author>
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<contributor.author>Chen, K</contributor.author>
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<contributor.author>Chan, SY</contributor.author>
<contributor.author>Wang, S</contributor.author>
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<contributor.author>Li, C</contributor.author>
<contributor.author>Shu, XO</contributor.author>
<contributor.author>Kang, DH</contributor.author>
<contributor.author>Zheng, W</contributor.author>
<date.accessioned>2012-09-20T08:10:04Z</date.accessioned>
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<description.abstract>Genetic factors play an important role in the etiology of both sporadic and familial breast cancer. We aimed to discover novel genetic susceptibility loci for breast cancer. We conducted a four-stage genome-wide association study (GWAS) in 19,091 cases and 20,606 controls of East-Asian descent including Chinese, Korean, and Japanese women. After analyzing 690,947 SNPs in 2,918 cases and 2,324 controls, we evaluated 5,365 SNPs for replication in 3,972 cases and 3,852 controls. Ninety-four SNPs were further evaluated in 5,203 cases and 5,138 controls, and finally the top 22 SNPs were investigated in up to 17,423 additional subjects (7,489 cases and 9,934 controls). SNP rs9485372, near the TGF-beta activated kinase (TAB2) gene in chromosome 6q25.1, showed a consistent association with breast cancer risk across all four stages, with a P-value of 3.8x10(-12) in the combined analysis of all samples. Adjusted odds ratios (95% confidence intervals) were 0.89 (0.85-0.94) and 0.80 (0.75-0.86) for the A/G and A/A genotypes, respectively, compared with the genotype G/G. SNP rs9383951 (P = 1.9x10(-6) from the combined analysis of all samples), located in intron 5 of the ESR1 gene, and SNP rs7107217 (P = 4.6x10(-7)), located at 11q24.3, also showed a consistent association in each of the four stages. This study provides strong evidence for a novel breast cancer susceptibility locus represented by rs9485372, near the TAB2 gene (6q25.1), and identifies two possible susceptibility loci located in the ESR1 gene and 11q24.3, respectively.</description.abstract>
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<rights>Creative Commons: Attribution 3.0 Hong Kong License</rights>
<subject>Asian</subject>
<subject>Breast cancer</subject>
<subject>Cancer risk</subject>
<subject>Cancer staging</subject>
<subject>Chinese</subject>
<title>Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer</title>
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Author Affiliations
  1. Shanghai Center for Disease Control and Prevention
  2. The University of Hong Kong Li Ka Shing Faculty of Medicine
  3. Vanderbilt Ingram Cancer Center
  4. National Cancer Center, Gyeonggi
  5. National Cancer Institute
  6. null
  7. Nagano Matsushiro General Hospital
  8. Seoul National University, College of Medical Sciences
  9. Aichi Cancer Center Hospital and Research Institute
  10. Nanjing Medical University
  11. University of Hawaii at Manoa
  12. Sun Yat-Sen University
  13. Soonchunhyang University, College of Medicine
  14. Keck School of Medicine of USC
  15. University of Ulsan, College of Medicine
  16. Queen Mary Hospital Hong Kong
  17. Vanderbilt University School of Medicine
  18. National Cancer Center Tokyo
  19. null
  20. National Institute of Health, Seoul
  21. Tianjin Medical University
  22. Institute of Biomedical Sciences Academia Sinica Taiwan