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Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

by Masson, Gisli , Mayordomo, Jose I , Margolin, Sara , Aben, Katja K , Swinkels, Dorine W , Strobbe, Luc J , Myrdal, Gardar , Andres, Raquel , Manolescu, Andrei , Fackenthal, James D , Jakobsdottir, Margret , Rafnar, Thorunn , Johannsson, Oskar T , Grimsson, Hlynur Niels , Jonsson, Gudbjörn F , Sveinsdottir, Steinunn G , Adebamowo, Clement , Rantala, Johanna , Alexiusdottir, Kristin , Bergthorsson, Jon T , Stefansson, Kari , Kostic, Jelena , Hrafnkelsson, Jon , Lindblom, Annika , Johannsson, Jakob , Sveinsson, Thorarinn , Sigurdsson, Asgeir , Gudmundsson, Julius , Tres, Alejandro , Stacey, Simon N , Millastre, Esther , Haiman, Christopher A , Gulcher, Jeffrey R , Henderson, Brian E , Jonsdottir, Thora , Kolonel, Laurence N , Thorsteinsdottir, Unnur , Kong, Augustine , Saez, Berta , Sulem, Patrick , Gudmundsson, Larus , Le Marchand, Loic , Sigurdsson, Helgi , Saemundsdottir, Jona , Kristjansson, Kristleifur , Ogundiran, Temidayo , Jonsson, Thorvaldur , Gudjonsson, Sigurjon A , van Engelenburg, K C Anton , Lambea, Julio , Godino, Javier , Thorlacius, Steinunn , Polo, Eduardo , Picelli, Simone , Kiemeney, Lambertus A , Olopade, Olufunmilayo I

in Adenocarcinoma - genetics / Adenocarcinoma - metabolism / Adenocarcinoma - pathology / Adult / Aged / Aged, 80 and over / Agriculture / Animal Genetics and Genomics / Apoptosis / Biomedical and Life Sciences / Biomedicine / Breast cancer / Breast Neoplasms - genetics / Breast Neoplasms - metabolism / Breast Neoplasms - pathology / brief-communication / Cancer Research / Carcinoma, Ductal, Breast - genetics / Carcinoma, Ductal, Breast - metabolism / Carcinoma, Ductal, Breast - pathology / Carcinoma, Intraductal, Noninfiltrating - genetics / Carcinoma, Intraductal, Noninfiltrating - metabolism / Carcinoma, Intraductal, Noninfiltrating - pathology / Carcinoma, Lobular - genetics / Carcinoma, Lobular - metabolism / Carcinoma, Lobular - pathology / Carcinoma, Medullary - genetics / Carcinoma, Medullary - metabolism / Carcinoma, Medullary - pathology / Case-Control Studies / Chromosomes / Chromosomes, Human, Pair 5 - genetics / Cohort Studies / Diagnosis / Estrogen / Estrogens / Female / Gene expression / Gene Function / Genetic aspects / Genetic markers / Genetic Predisposition to Disease / Genetic Variation / Human Genetics / Humans / International Agencies / Male / Middle Aged / Multivariate analysis / Physiological aspects / Polymorphism, Single Nucleotide / Progesterone / Prognosis / Receptor, Fibroblast Growth Factor, Type 2 - genetics / Receptor, Fibroblast Growth Factor, Type 2 - metabolism / Receptors / Receptors, Estrogen - metabolism / Ribosomal Proteins - genetics / Ribosomal Proteins - metabolism / Risk factors / Single nucleotide polymorphisms

2008

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Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

2008

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2008

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Journal Article

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

Masson, Gisli,

Mayordomo, Jose I,

Margolin, Sara,

Aben, Katja K,

Swinkels, Dorine W,

Strobbe, Luc J,

Myrdal, Gardar,

Andres, Raquel,

Manolescu, Andrei,

Fackenthal, James D,

Jakobsdottir, Margret,

Rafnar, Thorunn,

Johannsson, Oskar T,

Grimsson, Hlynur Niels,

Jonsson, Gudbjörn F,

Sveinsdottir, Steinunn G,

Adebamowo, Clement,

Rantala, Johanna,

Alexiusdottir, Kristin,

Bergthorsson, Jon T,

Stefansson, Kari,

Kostic, Jelena,

Hrafnkelsson, Jon,

Lindblom, Annika,

Johannsson, Jakob,

Sveinsson, Thorarinn,

Sigurdsson, Asgeir,

Gudmundsson, Julius,

Tres, Alejandro,

Stacey, Simon N,

Millastre, Esther,

Haiman, Christopher A,

Gulcher, Jeffrey R,

Henderson, Brian E,

Jonsdottir, Thora,

Kolonel, Laurence N,

Thorsteinsdottir, Unnur,

Kong, Augustine,

Saez, Berta,

Sulem, Patrick,

Gudmundsson, Larus,

Le Marchand, Loic,

Sigurdsson, Helgi,

Saemundsdottir, Jona,

Kristjansson, Kristleifur,

Ogundiran, Temidayo,

Jonsson, Thorvaldur,

Gudjonsson, Sigurjon A,

van Engelenburg, K C Anton,

Lambea, Julio,

Godino, Javier,

Thorlacius, Steinunn,

Polo, Eduardo,

Picelli, Simone,

Kiemeney, Lambertus A,

Olopade, Olufunmilayo I

2008

Overview

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 × 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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Publisher

Nature Publishing Group US,Nature Publishing Group

Subject

Adenocarcinoma - genetics

/ Adenocarcinoma - metabolism

/ Adenocarcinoma - pathology

/ Adult

/ Aged

/ Aged, 80 and over

/ Agriculture