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Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer |
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| Authors: | Stacey Simon N Manolescu Andrei Sulem Patrick Thorlacius Steinunn Gudjonsson Sigurjon A Jonsson Gudbjörn F Jakobsdottir Margret Bergthorsson Jon T Gudmundsson Julius Aben Katja K Strobbe Luc J Swinkels Dorine W van Engelenburg K C Anton Henderson Brian E Kolonel Laurence N Le Marchand Loic Millastre Esther Andres Raquel Saez Berta Lambea Julio Godino Javier Polo Eduardo Tres Alejandro Picelli Simone Rantala Johanna Margolin Sara Jonsson Thorvaldur Sigurdsson Helgi Jonsdottir Thora Hrafnkelsson Jon Johannsson Jakob Sveinsson Thorarinn Myrdal Gardar Grimsson Hlynur Niels Sveinsdottir Steinunn G |
| Affiliation: | deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. simon.stacey@decode.is |
| 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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