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

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Authors
Stacey, Simon N
Manolescu, Andrei
Sulem, Patrick
Rafnar, Thorunn
Gudmundsson, Julius
Gudjonsson, Sigurjon A
Masson, Gisli
Jakobsdottir, Margret
Thorlacius, Steinunn
Helgason, Agnar
Aben, Katja K
Strobbe, Luc J
Albers-Akkers, Marjo T
Swinkels, Dorine W
Henderson, Brian E
Kolonel, Laurence N
Le Marchand, Loic
Millastre, Esther
Andres, Raquel
Godino, Javier
Garcia-Prats, Maria Dolores
Polo, Eduardo
Tres, Alejandro
Mouy, Magali
Saemundsdottir, Jona
Backman, Valgerdur M
Gudmundsson, Larus
Kristjansson, Kristleifur
Bergthorsson, Jon T
Kostic, Jelena
Frigge, Michael L
Geller, Frank
Gudbjartsson, Daniel
Sigurdsson, Helgi
Jonsdottir, Thora
Hrafnkelsson, Jon
Johannsson, Jakob
Sveinsson, Thorarinn
Myrdal, Gardar
Grimsson, Hlynur Niels
Jonsson, Thorvaldur
von Holst, Susanna
Werelius, Barbro
Margolin, Sara
Lindblom, Annika
Mayordomo, Jose I
Haiman, Christopher A
Kiemeney, Lambertus A
Johannsson, Oskar Th
Gulcher, Jeffrey R
Thorsteinsdottir, Unnur
Kong, Augustine
Stefansson, Kari
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Issue Date
2007-07-01

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Citation
Nat. Genet. 2007, 39(7):865-9
Abstract
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: approximately 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.
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http://dx.doi.org/10.1038/ng2064
ae974a485f413a2113503eed53cd6c53
10.1038/ng2064
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