Association of ESR1 gene tagging SNPs with breast cancer risk

Dunning, A. M., Healey, C. S., Baynes, C., Maia, A. T., Scollen, S., Vega, A., Rodriguez, R., Barbosa-Morais, N. L., Ponder, B. A.J., Low, Y. L., Bingham, S., Haiman, C. A., Le Marchand, L., Broeks, A., Schmidt, M. K., Hopper, J., Southey, M., Beckmann, M. W., Fasching, P. A., Peto, J., Johnson, N., Bojesen, S. E., Nordestgaard, B., Milne, R. L., Benitez, J., Hamann, U., Ko, Y., Schmutzler, R. K., Burwinkel, B., Schurmann, P.., Dork, T, Heikkinen, T., Nevanlinna, H., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V. M., Chen, X. Q., Spurdle, A., Change-Claude, J., Flesch-Janys, D., Couch, F. J., Olson, J. E., Severi, G., Baglietto, L., Brresen-Dale, A. L., Kristensen, V., Hunter, D. J., Hankinson, S. E., Devilee, P., Vreeswijk, M., Lissowska, J., Brinton, L., Liu, J. J., Hall, P., Kang, D., Yoo, K. Y., Shen, C. Y., Yu, J. C., Anton-Culver, H., Ziogoas, A., Sigurdson, A., Struewing, J., Easton, D. F., Garcia-Closas, M., Humphreys, M. K., Morrison, J., Pharoah, P. D. P., Pooley, K. A. and Chenevix-Trench, G. (2009) Association of ESR1 gene tagging SNPs with breast cancer risk. Human Molecular Genetics, 18 6: 1131-1139. doi:10.1093/hmg/ddn429

Author Dunning, A. M.
Healey, C. S.
Baynes, C.
Maia, A. T.
Scollen, S.
Vega, A.
Rodriguez, R.
Barbosa-Morais, N. L.
Ponder, B. A.J.
Low, Y. L.
Bingham, S.
Haiman, C. A.
Le Marchand, L.
Broeks, A.
Schmidt, M. K.
Hopper, J.
Southey, M.
Beckmann, M. W.
Fasching, P. A.
Peto, J.
Johnson, N.
Bojesen, S. E.
Nordestgaard, B.
Milne, R. L.
Benitez, J.
Hamann, U.
Ko, Y.
Schmutzler, R. K.
Burwinkel, B.
Schurmann, P..
Dork, T
Heikkinen, T.
Nevanlinna, H.
Lindblom, A.
Margolin, S.
Mannermaa, A.
Kosma, V. M.
Chen, X. Q.
Spurdle, A.
Change-Claude, J.
Flesch-Janys, D.
Couch, F. J.
Olson, J. E.
Severi, G.
Baglietto, L.
Brresen-Dale, A. L.
Kristensen, V.
Hunter, D. J.
Hankinson, S. E.
Devilee, P.
Vreeswijk, M.
Lissowska, J.
Brinton, L.
Liu, J. J.
Hall, P.
Kang, D.
Yoo, K. Y.
Shen, C. Y.
Yu, J. C.
Anton-Culver, H.
Ziogoas, A.
Sigurdson, A.
Struewing, J.
Easton, D. F.
Garcia-Closas, M.
Humphreys, M. K.
Morrison, J.
Pharoah, P. D. P.
Pooley, K. A.
Chenevix-Trench, G.
Title Association of ESR1 gene tagging SNPs with breast cancer risk
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 0964-6906
Publication date 2009-03
Sub-type Article (original research)
DOI 10.1093/hmg/ddn429
Volume 18
Issue 6
Start page 1131
End page 1139
Total pages 9
Editor Kay Davies
Anthony Wynshaw-Boris
Joel Hirschhorn
Place of publication Oxford, England
Publisher Oxford University Press
Collection year 2010
Language eng
Subject 270100 Biochemistry and Cell Biology
270200 Genetics
Formatted abstract
We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55 000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. Carriers of the c-allele have an odds ratio (OR) of 1.05 [95% Confidence Intervals (CI) 1.02–1.09] relative to t-allele homozygotes, P = 0.004. There is significant heterogeneity between studies, P = 0.002. The increased risk appears largely confined to oestrogen receptor-positive tumour risk. The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms.
Keyword Estrogen-receptor gene
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 57 times in Thomson Reuters Web of Science Article | Citations
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Created: Thu, 03 Sep 2009, 08:34:00 EST by Mr Andrew Martlew on behalf of Molecular and Cellular Pathology - Sch of Med Cent