Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

Simon N. Stacey*, Andrei Manolescu, Patrick Sulem, Thorunn Rafnar, Julius Gudmundsson, Sigurjon A. Gudjonsson, Gisli Masson, Margret Jakobsdottir, Steinunn Thorlacius, Agnar Helgason, Katja K. Aben, Luc J. Strobbe, Marjo T. Albers-Akkers, Dorine W. Swinkels, Brian E. Henderson, Laurence N. Kolonel, Loic Le Marchand, Esther Millastre, Raquel Andres, Javier GodinoMaria Dolores Garcia-Prats, Eduardo Polo, Alejandro Tres, Magali Mouy, Jona Saemundsdottir, Valgerdur M. Backman, Larus Gudmundsson, Kristleifur Kristjansson, Jon T. Bergthorsson, Jelena Kostic, Michael L. Frigge, Frank Geller, Daniel Gudbjartsson, Helgi Sigurdsson, Thora Jonsdottir, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Thorvaldur Jonsson, Susanna Von Holst, Barbro Werelius, Sara Margolin, Annika Lindblom, Jose I. Mayordomo, Christopher A. Haiman, Lambertus A. Kiemeney, Oskar Th Johannsson, Jeffrey R. Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

607 Citations (Scopus)


Familial clustering studies indicate that breast cancer risk has a substantial genetic component. 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 bone.

Original languageEnglish
Pages (from-to)865-869
Number of pages5
JournalNature Genetics
Issue number7
Publication statusPublished - Jul 2007


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