Brief Communication abstract
Nature Genetics 40, 703 - 706 (2008)
Published online: 27 April 2008 | doi:10.1038/ng.131
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer
Simon N Stacey1, Andrei Manolescu1, Patrick Sulem1, Steinunn Thorlacius1, Sigurjon A Gudjonsson1, Gudbjörn F Jonsson1, Margret Jakobsdottir1, Jon T Bergthorsson1, Julius Gudmundsson1, Katja K Aben2,3, Luc J Strobbe4, Dorine W Swinkels3, K C Anton van Engelenburg5, Brian E Henderson6, Laurence N Kolonel7, Loic Le Marchand7, Esther Millastre8, Raquel Andres8, Berta Saez9, Julio Lambea8, Javier Godino9, Eduardo Polo10, Alejandro Tres8, Simone Picelli11, Johanna Rantala11, Sara Margolin12, Thorvaldur Jonsson13, Helgi Sigurdsson13, Thora Jonsdottir13, Jon Hrafnkelsson13, Jakob Johannsson13, Thorarinn Sveinsson13, Gardar Myrdal13, Hlynur Niels Grimsson13, Steinunn G Sveinsdottir14, Kristin Alexiusdottir14, Jona Saemundsdottir1, Asgeir Sigurdsson1, Jelena Kostic1, Larus Gudmundsson1, Kristleifur Kristjansson1, Gisli Masson1, James D Fackenthal15, Clement Adebamowo16, Temidayo Ogundiran16, Olufunmilayo I Olopade15, Christopher A Haiman6, Annika Lindblom11, Jose I Mayordomo8, Lambertus A Kiemeney2,3, Jeffrey R Gulcher1, Thorunn Rafnar1, Unnur Thorsteinsdottir1, Oskar T Johannsson13, Augustine Kong1 & Kari Stefansson1
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.
- deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland.
- Comprehensive Cancer Centre IKO, 6501 BG, Nijmegen, The Netherlands.
- Departments of Epidemiology and Biostatistics and Clinical Chemistry and Urology, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands.
- Department of Surgery, Canisius Wilhelmina Hospital, 6500 GS, Nijmegen, The Netherlands.
- Department of Surgery, Slingeland Hospital, 7009 BL Doetinchem, The Netherlands.
- Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
- Cancer Research Center, University of Hawaii, Honolulu, Hawaii 96813, USA.
- Division of Medical Oncology, University Hospital, Av. San Juan Bosco 15, 50009 Zaragoza, Spain.
- Health Science Institute, Nanotechnology Institute of Aragon, 50009 Zaragoza, Spain.
- Division of Medical Oncology, Ernest Lluch Hospital, 50300 Calatayud, Spain.
- Department of Molecular Medicine, Karolinska Institutet, S171 76 Stockholm, Sweden.
- Department of Oncology, Karolinska University Hospital at Södersjukhuset, S118 83 Stockholm, Sweden.
- Departments of Oncology, Surgery, and Radiation Physics, Landspitali-University Hospital, 101 Reykjavik, Iceland.
- Clinical Research Centre, 110 Reykjavik, Iceland.
- Department of Medicine and Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois 60615, USA.
- Division of Oncology, Department of Surgery, College of Medicine, University of Ibadan, University College Hospital, Ibadan, Oyo State, Nigeria.
Correspondence to: Simon N Stacey1 e-mail: simon.stacey@decode.is
Correspondence to: Kari Stefansson1 e-mail: kari.stefansson@decode.is
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