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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 × 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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Figure 1: The 5p12 region from 44,200,000 bp to 46,200,000 bp (NCBI Build35).


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We thank G.H. Olafsdottir for assistance in the ascertainment of individuals with breast cancer. This project was funded in part by contract number 018827 (POLYGENE) from the 6th Framework Programme of the European Union (to S.N.S., T.R. and L.A.K.), the Swedish Cancer Society, the Gustav V Jubilee Foundation, the Bert von Kantzow Foundation and the Nilsson-Ehle Foundation (to A.L. and S.M.) and the US National Cancer Institute (grant CA-RO1 89085-01A to O.I.O).

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The study was designed by S.N.S., A.M., T. Jonsson, K.K., L.A.K., J.R.G., T.R., U.T., O.T.J., A.K. and K.S. Patient ascertainment, recruitment and medical record review was organized and carried out by S.N.S., S.T., K.K.A., L.J.S., D.W.S., K.C.A.v.E., B.E.H., L.N.K., L.Le.M., E.M., R.A., B.S., J.L., J. Godino, E.P., A.T., S.P., J.R., S.M., H.S., T. Jonsdottir, J.H., J.J., T.S., G. Myrdal, H.N.G., T. Jonsson, L.G., K.K., S.G.S., K.A., J.D.F., C.A., T.O., O.I.O., C.A.H., A.L., J.I.M., L.A.K. and O.T.J. Biological material collection and handling was supervised by S.N.S., K.K., J.I.M., S.G.S, O.I.O., L.A.K., J.S. and U.T. Genotyping was supervised by S.N.S., M.J., A.S., J.K. and U.T. Statistical analysis was carried out by A.M., P.S., G.F.J., J.T.B., J. Gudmundsson and A.K. Bioinformatic analysis was carried out by S.N.S., S.A.G. and G. Masson. S.N.S. and A.M. drafted the manuscript with substantial contributions from P.S., U.T., O.T.J., A.K. and K.S. All authors contributed to the final version of the paper. Principal collaborators for the patient cohorts were O.T.J. (Iceland), L.A.K. (Holland), J.I.M. (Spain), A.L. (Sweden), O.I.O. (Nigeria) and C.A.H. (Multiethnic Cohort, USA).

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Correspondence to Simon N Stacey or Kari Stefansson.

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Authors whose affiliations are listed as deCODE Genetics are shareholders and/or employees of deCODE Genetics, a biotechnology company.

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Supplementary Methods, Supplementary Figure 1 and Supplementary Tables 1–7 (PDF 286 kb)

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Stacey, S., Manolescu, A., Sulem, P. et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer. Nat Genet 40, 703–706 (2008).

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