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Association of ESR1 gene tagging SNPs with breast cancer risk.


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.

SUBMITTER: Dunning AM 

PROVIDER: S-EPMC2722230 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature

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Association of ESR1 gene tagging SNPs with breast cancer risk.

Dunning Alison M AM   Healey Catherine S CS   Baynes Caroline C   Maia Ana-Teresa AT   Scollen Serena S   Vega Ana A   Rodríguez Raquel R   Barbosa-Morais Nuno L NL   Ponder Bruce A J BA   Low Yen-Ling YL   Bingham Sheila S   Haiman Christopher A CA   Le Marchand Loic L   Broeks Annegien A   Schmidt Marjanka K MK   Hopper John J   Southey Melissa M   Beckmann Matthias W MW   Fasching Peter A PA   Peto Julian J   Johnson Nichola N   Bojesen Stig E SE   Nordestgaard Børge B   Milne Roger L RL   Benitez Javier J   Hamann Ute U   Ko Yon Y   Schmutzler Rita K RK   Burwinkel Barbara B   Schürmann Peter P   Dörk Thilo T   Heikkinen Tuomas T   Nevanlinna Heli H   Lindblom Annika A   Margolin Sara S   Mannermaa Arto A   Kosma Veli-Matti VM   Chen Xiaoqing X   Spurdle Amanda A   Change-Claude Jenny J   Flesch-Janys Dieter D   Couch Fergus J FJ   Olson Janet E JE   Severi Gianluca G   Baglietto Laura L   Børresen-Dale Anne-Lise AL   Kristensen Vessela V   Hunter David J DJ   Hankinson Susan E SE   Devilee Peter P   Vreeswijk Maaike M   Lissowska Jolanta J   Brinton Louise L   Liu Jianjun J   Hall Per P   Kang Daehee D   Yoo Keun-Young KY   Shen Chen-Yang CY   Yu Jyh-Cherng JC   Anton-Culver Hoda H   Ziogoas Argyrios A   Sigurdson Alice A   Struewing Jeff J   Easton Douglas F DF   Garcia-Closas Montserrat M   Humphreys Manjeet K MK   Morrison Jonathan J   Pharoah Paul D P PD   Pooley Karen A KA   Chenevix-Trench Georgia G  

Human molecular genetics 20090106 6


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. Carri  ...[more]

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