Cited by 541Genetic Associations and EpidemiologyBRCA gene mutations in cancerEstrogen and related hormone effects

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Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1

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Zheng, Wei, Long, Jirong, Gao, Yu-Tang, Li, Chun, Zheng, Ying, Xiang, Yong-Bin, Wen, Wanqing, Levy, Shawn, Deming, Sandra L, Haines, Jonathan L, Gu, Kai, Fair, Alecia Malin, Cai, Qiuyin, Lu, Wei, Shu, Xiao-Ou·2009·Nature Genetics

DOI 10.1038/ng.318PMC PMC2754845

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Abstract

We carried out a genome-wide association study among Chinese women to identify risk variants for breast cancer. After analyzing 607,728 SNPs in 1,505 cases and 1,522 controls, we selected 29 SNPs for a fast-track replication in an independent set of 1,554 cases and 1,576 controls. We further investigated four replicated loci in a third set of samples comprising 3,472 cases and 900 controls. SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor alpha (ESR1), showed strong and consistent association with breast cancer across all three stages. Adjusted odds ratio (95% CI) were 1.36 (1.24-1.49) and 1.59 (1.40-1.82), respectively, for genotypes A/G and A/A versus G/G (P for trend 2.0 x 10(-15)) in the pooled analysis of samples from all three stages. We also found a similar, albeit weaker, association in an independent study comprising 1,591 cases and 1,466 controls of European ancestry (P(trend) = 0.01). These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer.

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Authors: Zheng, W., Long, J., Gao, Y.-T., Li, C., Zheng, Y., Xiang, Y.-B., Wen, W., Levy, S., Deming, S. L., Haines, J. L., Gu, K., Fair, A. M., Cai, Q., Lu, W., & Shu, X.-O.
Affiliations: Vanderbilt University (US)
Shanghai Cancer Institute (CN)
Shanghai Municipal Center For Disease Control Prevention (CN)
Meharry Medical College (US)
Corresponding author: Zheng, Wei
ORCID: Zheng, Wei
Long, Jirong
Li, Chun
Zheng, Ying
Wen, Wanqing
Levy, Shawn
Haines, Jonathan L
Gu, Kai
Fair, Alecia Malin
Cai, Qiuyin
Lu, Wei
Shu, Xiao-Ou
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2009-02-15
Volume: 41
Issue: 3
Pages: 324-328
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng.318
PMC: PMC2754845
OpenAlex: W2001701937
Cited by: 541
References: 27
Citations by year: 2026: 4 · 2025: 9 · 2024: 6 · 2023: 14 · 2022: 13 · 2021: 16 · 2020: 19 · 2019: 21 · 2018: 16 · 2017: 21 · 2016: 43 · 2015: 30 · 2014: 48 · 2013: 59 · 2012: 68
FWCI: 43.04
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: U.S. Department of Defense
National Institutes of Health
National Cancer Institute (R01CA092585, R01CA064277, P30 CA 68485, Z01BC011118, R01 CA70867, R01CA122756, R01CA070867, R01CA64277, R01CA090899, R01CA124558, R01CA118229, R01 CA92585, R01CA100374, P30CA068485, R01-CA90899)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
Keywords: breast cancer, estrogen receptor 1, ESR1, genetic susceptibility loci, single nucleotide polymorphisms, Chinese women, European ancestry
MeSH terms: Adult, Breast Neoplasms, Chromosomes, Human, Pair 6, Female, Gene Frequency, Humans, Middle Aged, Risk Factors, Linkage Disequilibrium, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Estrogen Receptor alpha, Genome-Wide Association Study

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Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1

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