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Randomized Controlled Trial
. 2008 Jun;40(6):703-6.
doi: 10.1038/ng.131. Epub 2008 Apr 27.

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer

Simon N Stacey  1 , Andrei Manolescu, Patrick Sulem, Steinunn Thorlacius, Sigurjon A Gudjonsson, Gudbjörn F Jonsson, Margret Jakobsdottir, Jon T Bergthorsson, Julius Gudmundsson, Katja K Aben, Luc J Strobbe, Dorine W Swinkels, K C Anton van Engelenburg, Brian E Henderson, Laurence N Kolonel, Loic Le Marchand, Esther Millastre, Raquel Andres, Berta Saez, Julio Lambea, Javier Godino, Eduardo Polo, Alejandro Tres, Simone Picelli, Johanna Rantala, Sara Margolin, Thorvaldur Jonsson, Helgi Sigurdsson, Thora Jonsdottir, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Steinunn G Sveinsdottir, Kristin Alexiusdottir, Jona Saemundsdottir, Asgeir Sigurdsson, Jelena Kostic, Larus Gudmundsson, Kristleifur Kristjansson, Gisli Masson, James D Fackenthal, Clement Adebamowo, Temidayo Ogundiran, Olufunmilayo I Olopade, Christopher A Haiman, Annika Lindblom, Jose I Mayordomo, Lambertus A Kiemeney, Jeffrey R Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Oskar T Johannsson, Augustine Kong, Kari Stefansson
Affiliations
Randomized Controlled Trial

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer

Simon N Stacey et al. Nat Genet. 2008 Jun.

Abstract

We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer.

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