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Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.
Stacey, Simon N; Manolescu, Andrei; Sulem, Patrick; Thorlacius, Steinunn; Gudjonsson, Sigurjon A; Jonsson, Gudbjörn F; Jakobsdottir, Margret; Bergthorsson, Jon T; Gudmundsson, Julius; Aben, Katja K; Strobbe, Luc J; Swinkels, Dorine W; van Engelenburg, K C Anton; Henderson, Brian E; Kolonel, Laurence N; Le Marchand, Loic; Millastre, Esther; Andres, Raquel; Saez, Berta; Lambea, Julio; Godino, Javier; Polo, Eduardo; Tres, Alejandro; Picelli, Simone; Rantala, Johanna; Margolin, Sara; Jonsson, Thorvaldur; Sigurdsson, Helgi; Jonsdottir, Thora; Hrafnkelsson, Jon; Johannsson, Jakob; Sveinsson, Thorarinn; Myrdal, Gardar; Grimsson, Hlynur Niels; Sveinsdottir, Steinunn G; Alexiusdottir, Kristin; Saemundsdottir, Jona; Sigurdsson, Asgeir; Kostic, Jelena; Gudmundsson, Larus; Kristjansson, Kristleifur; Masson, Gisli; Fackenthal, James D; Adebamowo, Clement; Ogundiran, Temidayo; Olopade, Olufunmilayo I; Haiman, Christopher A; Lindblom, Annika; Mayordomo, Jose I; Kiemeney, Lambertus A.
Affiliation
  • Stacey SN; deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. simon.stacey@decode.is
Nat Genet ; 40(6): 703-6, 2008 Jun.
Article in En | MEDLINE | ID: mdl-18438407
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 x 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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Chromosomes, Human, Pair 5 / Breast Neoplasms / Receptors, Estrogen / Genetic Predisposition to Disease Type of study: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Aged80 Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2008 Document type: Article Affiliation country: Iceland Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Chromosomes, Human, Pair 5 / Breast Neoplasms / Receptors, Estrogen / Genetic Predisposition to Disease Type of study: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Aged80 Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2008 Document type: Article Affiliation country: Iceland Country of publication: United States