Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer by 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 in Nature genetics (2007).

[PMID: 17529974] PubMed


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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