Letter abstract
Nature Genetics 39, 865 - 869 (2007)
Published online: 27 May 2007 | doi:10.1038/ng2064
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer
Simon N Stacey1, Andrei Manolescu1, Patrick Sulem1, Thorunn Rafnar1, Julius Gudmundsson1, Sigurjon A Gudjonsson1, Gisli Masson1, Margret Jakobsdottir1, Steinunn Thorlacius1, Agnar Helgason1, Katja K Aben2,3, Luc J Strobbe4, Marjo T Albers-Akkers5, Dorine W Swinkels3, Brian E Henderson6, Laurence N Kolonel7, Loic Le Marchand7, Esther Millastre8, Raquel Andres8, Javier Godino9, Maria Dolores Garcia-Prats10, Eduardo Polo11, Alejandro Tres8, Magali Mouy1, Jona Saemundsdottir1, Valgerdur M Backman1, Larus Gudmundsson1, Kristleifur Kristjansson1, Jon T Bergthorsson1, Jelena Kostic1, Michael L Frigge1, Frank Geller1, Daniel Gudbjartsson1, Helgi Sigurdsson12, Thora Jonsdottir12, Jon Hrafnkelsson12, Jakob Johannsson12, Thorarinn Sveinsson12, Gardar Myrdal12, Hlynur Niels Grimsson12, Thorvaldur Jonsson12, Susanna von Holst13, Barbro Werelius13, Sara Margolin14, Annika Lindblom13, Jose I Mayordomo8, Christopher A Haiman6, Lambertus A Kiemeney3, Oskar Th Johannsson12, Jeffrey R Gulcher1, Unnur Thorsteinsdottir1, Augustine Kong1 & Kari Stefansson1
Familial clustering studies indicate that breast cancer risk has a substantial genetic component1, 2, 3. To identify new breast cancer risk variants, we genotyped approximately 300,000 SNPs in 1,600 Icelandic individuals with breast cancer and 11,563 controls using the Illumina Hap300 platform. We then tested selected SNPs in five replication sample sets. Overall, we studied 4,554 affected individuals and 17,577 controls. Two SNPs consistently associated with breast cancer: 
25% of individuals of European descent are homozygous for allele A of rs13387042 on chromosome 2q35 and have an estimated 1.44-fold greater risk than noncarriers, and for allele T of rs3803662 on 16q12, about 7% are homozygous and have a 1.64-fold greater risk. Risk from both alleles was confined to estrogen receptor–positive tumors. At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9, a high mobility group chromatin–associated protein whose expression is implicated in breast cancer metastasis to bone4.
- deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
- Comprehensive Cancer Center IKO, 6501 BG, Nijmegen, The Netherlands.
- Departments of Epidemiology and Biostatistics and Clinical Chemistry, Radboud University Nijmegen Medical Center, 6500 HB, Nijmegen, The Netherlands.
- Department of Surgery, Canisius Wilhelmina Hospital, 6500 GS Nijmegen, The Netherlands.
- INR Thrombosis Service, 6525 GA Nijmegen, 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, Zaragoza, Spain.
- Division of Pathology, San Jorge General Hospital, Av. Martínez de Velasco 38, 22004 Huesca, Spain.
- Division of Medical Oncology, Ernest Lluch Hospital, 50300 Calatayud, Spain.
- Departments of Oncology, Surgery and Radiation Physics, Landspitali-University Hospital, 101 Reykjavik, Iceland.
- Department of Molecular Medicine, Karolinska Institute, S171 76 Stockholm, Sweden.
- Department of Oncology, Karolinska University Hospital at Södersjukhuset, S118 83 Stockholm, Sweden.
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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