Association of ESR1 gene tagging SNPs with breast cancer risk.
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Association of ESR1 gene tagging SNPs with breast cancer risk. / Dunning, Alison M; Healey, Catherine S; Baynes, Caroline; Maia, Ana-Teresa; Scollen, Serena; Vega, Ana; Rodríguez, Raquel; Barbosa-Morais, Nuno L; Ponder, Bruce A J; Low, Yen-Ling; Bingham, Sheila; Haiman, Christopher A; Loic, Le Marchand; Broeks, Annegien; Schmidt, Marjanka K; Hopper, John; Southey, Melissa; Beckmann, Matthias W; Fasching, Peter A; Peto, Julian; Johnson, Nichola; Bojesen, Stig E; Nordestgaard, Børge; Milne, Roger L; Benitez, Javier; Hamann, Ute; Ko, Yon; Schmutzler, Rita K; Burwinkel, Barbara; Schürmann, Peter; Dörk, Thilo; Heikkinen, Tuomas; Nevanlinna, Heli; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli-Matti; Chen, Xiaoqing; Spurdle, Amanda; Jenny, Change-Claude; Flesch-Janys, Dieter; Couch, Fergus J; Olson, Janet E; Severi, Gianluca; Baglietto, Laura; Børresen-Dale, Anne-Lise; Kristensen, Vessela; Hunter, David J; Hankinson, Susan E; Devilee, Peter; Vreeswijk, Maaike; Lissowska, Jolanta; Brinton, Louise; Liu, Jianjun; Hall, Per; Kang, Daehee; Yoo, Keun-Young; Shen, Chen-Yang; Yu, Jyh-Cherng; Anton-Culver, Hoda; Ziogoas, Argyrios; Sigurdson, Alice; Struewing, Jeff; Easton, Douglas F; Garcia-Closas, Montserrat; Humphreys, Manjeet K; Morrison, Jonathan; Pharoah, Paul D P; Pooley, Karen A; Chenevix-Trench, Georgia.
In: HUM MOL GENET, Vol. 18, No. 6, 6, 2009, p. 1131-1139.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Association of ESR1 gene tagging SNPs with breast cancer risk.
AU - Dunning, Alison M
AU - Healey, Catherine S
AU - Baynes, Caroline
AU - Maia, Ana-Teresa
AU - Scollen, Serena
AU - Vega, Ana
AU - Rodríguez, Raquel
AU - Barbosa-Morais, Nuno L
AU - Ponder, Bruce A J
AU - Low, Yen-Ling
AU - Bingham, Sheila
AU - Haiman, Christopher A
AU - Loic, Le Marchand
AU - Broeks, Annegien
AU - Schmidt, Marjanka K
AU - Hopper, John
AU - Southey, Melissa
AU - Beckmann, Matthias W
AU - Fasching, Peter A
AU - Peto, Julian
AU - Johnson, Nichola
AU - Bojesen, Stig E
AU - Nordestgaard, Børge
AU - Milne, Roger L
AU - Benitez, Javier
AU - Hamann, Ute
AU - Ko, Yon
AU - Schmutzler, Rita K
AU - Burwinkel, Barbara
AU - Schürmann, Peter
AU - Dörk, Thilo
AU - Heikkinen, Tuomas
AU - Nevanlinna, Heli
AU - Lindblom, Annika
AU - Margolin, Sara
AU - Mannermaa, Arto
AU - Kosma, Veli-Matti
AU - Chen, Xiaoqing
AU - Spurdle, Amanda
AU - Jenny, Change-Claude
AU - Flesch-Janys, Dieter
AU - Couch, Fergus J
AU - Olson, Janet E
AU - Severi, Gianluca
AU - Baglietto, Laura
AU - Børresen-Dale, Anne-Lise
AU - Kristensen, Vessela
AU - Hunter, David J
AU - Hankinson, Susan E
AU - Devilee, Peter
AU - Vreeswijk, Maaike
AU - Lissowska, Jolanta
AU - Brinton, Louise
AU - Liu, Jianjun
AU - Hall, Per
AU - Kang, Daehee
AU - Yoo, Keun-Young
AU - Shen, Chen-Yang
AU - Yu, Jyh-Cherng
AU - Anton-Culver, Hoda
AU - Ziogoas, Argyrios
AU - Sigurdson, Alice
AU - Struewing, Jeff
AU - Easton, Douglas F
AU - Garcia-Closas, Montserrat
AU - Humphreys, Manjeet K
AU - Morrison, Jonathan
AU - Pharoah, Paul D P
AU - Pooley, Karen A
AU - Chenevix-Trench, Georgia
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 18
SP - 1131
EP - 1139
JO - HUM MOL GENET
JF - HUM MOL GENET
SN - 0964-6906
IS - 6
M1 - 6
ER -