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


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.

DOI: 10.1038/ng.131

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@article{Stacey2008CommonVO, title={Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.}, author={Simon N. Stacey and Andrei Manolescu and Patrick Sulem and Steinunn Thorlacius and Sigurjon Axel Gudjonsson and Gudbj{\"{o}rn F Jonsson and Margret Jakobsdottir and Jon Thor Bergthorsson and Julius Gudmundsson and Katja K. H. Aben and Luc J.A. Strobbe and Dorine W Swinkels and K. C. Anton van Engelenburg and Brian E. Henderson and Laurence N. Kolonel and Lo{\"{i}c Le Le Marchand and Esther Millastre and Raquel de Andres and Berta S{\'a}ez and Julio Lambea and Javier Godino and Eduardo Ramos Polo and Alejandro Tres and Simone Picelli and Johanna Rantala and Sara Margolin and Thorvaldur J{\'o}nsson and Helgi Sigurdsson and Thora Jonsdottir and J{\'o}n Hrafnkelsson and Jakob J{\'o}hannsson and Thorarinn Sveinsson and Gardar Myrdal and Hlynur Niels Grimsson and Steinunn G Sveinsdottir and Kristin K Alexiusdottir and Jona Saemundsdottir and Asgeir Sigurdsson and Jelena Pop Kostic and Larus J Gudmundsson and Kristleifur Kristj{\'a}nsson and G{\'i}sli M{\'a}sson and James Fackenthal and Clement Adebamowo and Temidayo O. Ogundiran and Olufunmilayo I. Olopade and Christopher A. Haiman and Annika Lindblom and Jos{\'e} Ignacio Mayordomo and Lambertus A Kiemeney and Jeffrey Robert Gulcher and Thorunn Rafnar and Unnur Thorsteinsdottir and Oskar Thor Johannsson and Augustine Kong and K{\'a}ri Stef{\'a}nsson}, journal={Nature genetics}, year={2008}, volume={40 6}, pages={703-6} }