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Estrogen receptor genotypes and haplotypes associated with breast cancer risk.
Cancer Res. 2004 Dec 15; 64(24):8891-900.CR

Abstract

Nearly one in eight US women will develop breast cancer in their lifetime. Most breast cancer is not associated with a hereditary syndrome, occurs in postmenopausal women, and is estrogen and progesterone receptor-positive. Estrogen exposure is an epidemiologic risk factor for breast cancer and estrogen is a potent mammary mitogen. We studied single nucleotide polymorphisms (SNPs) in estrogen receptors in 615 healthy subjects and 1011 individuals with histologically confirmed breast cancer, all from New York City. We analyzed 13 SNPs in the progesterone receptor gene (PGR), 17 SNPs in estrogen receptor 1 gene (ESR1), and 8 SNPs in the estrogen receptor 2 gene (ESR2). We observed three common haplotypes in ESR1 that were associated with a decreased risk for breast cancer [odds ratio (OR), approximately O.4; 95% confidence interval (CI), 0.2-0.8; P < 0.01]. Another haplotype was associated with an increased risk of breast cancer (OR, 2.1; 95% CI, 1.2-3.8; P < 0.05). A unique risk haplotype was present in approximately 7% of older Ashkenazi Jewish study subjects (OR, 1.7; 95% CI, 1.2-2.4; P < 0.003). We narrowed the ESR1 risk haplotypes to the promoter region and first exon. We define several other haplotypes in Ashkenazi Jews in both ESR1 and ESR2 that may elevate susceptibility to breast cancer. In contrast, we found no association between any PGR variant or haplotype and breast cancer. Genetic epidemiology study replication and functional assays of the haplotypes should permit a better understanding of the role of steroid receptor genetic variants and breast cancer risk.

Authors+Show Affiliations

Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute at Frederick, Frederick, Maryland, USA. goldb@ncifcrf.govNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15604249

Citation

Gold, Bert, et al. "Estrogen Receptor Genotypes and Haplotypes Associated With Breast Cancer Risk." Cancer Research, vol. 64, no. 24, 2004, pp. 8891-900.
Gold B, Kalush F, Bergeron J, et al. Estrogen receptor genotypes and haplotypes associated with breast cancer risk. Cancer Res. 2004;64(24):8891-900.
Gold, B., Kalush, F., Bergeron, J., Scott, K., Mitra, N., Wilson, K., Ellis, N., Huang, H., Chen, M., Lippert, R., Halldorsson, B. V., Woodworth, B., White, T., Clark, A. G., Parl, F. F., Broder, S., Dean, M., & Offit, K. (2004). Estrogen receptor genotypes and haplotypes associated with breast cancer risk. Cancer Research, 64(24), 8891-900.
Gold B, et al. Estrogen Receptor Genotypes and Haplotypes Associated With Breast Cancer Risk. Cancer Res. 2004 Dec 15;64(24):8891-900. PubMed PMID: 15604249.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Estrogen receptor genotypes and haplotypes associated with breast cancer risk. AU - Gold,Bert, AU - Kalush,Francis, AU - Bergeron,Julie, AU - Scott,Kevin, AU - Mitra,Nandita, AU - Wilson,Kelly, AU - Ellis,Nathan, AU - Huang,Helen, AU - Chen,Michael, AU - Lippert,Ross, AU - Halldorsson,Bjarni V, AU - Woodworth,Beth, AU - White,Thomas, AU - Clark,Andrew G, AU - Parl,Fritz F, AU - Broder,Samuel, AU - Dean,Michael, AU - Offit,Kenneth, PY - 2004/12/18/pubmed PY - 2005/2/4/medline PY - 2004/12/18/entrez SP - 8891 EP - 900 JF - Cancer research JO - Cancer Res VL - 64 IS - 24 N2 - Nearly one in eight US women will develop breast cancer in their lifetime. Most breast cancer is not associated with a hereditary syndrome, occurs in postmenopausal women, and is estrogen and progesterone receptor-positive. Estrogen exposure is an epidemiologic risk factor for breast cancer and estrogen is a potent mammary mitogen. We studied single nucleotide polymorphisms (SNPs) in estrogen receptors in 615 healthy subjects and 1011 individuals with histologically confirmed breast cancer, all from New York City. We analyzed 13 SNPs in the progesterone receptor gene (PGR), 17 SNPs in estrogen receptor 1 gene (ESR1), and 8 SNPs in the estrogen receptor 2 gene (ESR2). We observed three common haplotypes in ESR1 that were associated with a decreased risk for breast cancer [odds ratio (OR), approximately O.4; 95% confidence interval (CI), 0.2-0.8; P < 0.01]. Another haplotype was associated with an increased risk of breast cancer (OR, 2.1; 95% CI, 1.2-3.8; P < 0.05). A unique risk haplotype was present in approximately 7% of older Ashkenazi Jewish study subjects (OR, 1.7; 95% CI, 1.2-2.4; P < 0.003). We narrowed the ESR1 risk haplotypes to the promoter region and first exon. We define several other haplotypes in Ashkenazi Jews in both ESR1 and ESR2 that may elevate susceptibility to breast cancer. In contrast, we found no association between any PGR variant or haplotype and breast cancer. Genetic epidemiology study replication and functional assays of the haplotypes should permit a better understanding of the role of steroid receptor genetic variants and breast cancer risk. SN - 0008-5472 UR - https://www.unboundmedicine.com/medline/citation/15604249/Estrogen_receptor_genotypes_and_haplotypes_associated_with_breast_cancer_risk_ L2 - http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&amp;pmid=15604249 DB - PRIME DP - Unbound Medicine ER -