title: Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.
abstract: 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.
authors.affiliation: deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. simon.stacey@decode.is
authors.forename: Simon N
authors.initials: SN
authors.lastname: Stacey
authors.forename: Andrei
authors.initials: A
authors.lastname: Manolescu
authors.forename: Patrick
authors.initials: P
authors.lastname: Sulem
authors.forename: Steinunn
authors.initials: S
authors.lastname: Thorlacius
authors.forename: Sigurjon A
authors.initials: SA
authors.lastname: Gudjonsson
authors.forename: Gudbjörn F
authors.initials: GF
authors.lastname: Jonsson
authors.forename: Margret
authors.initials: M
authors.lastname: Jakobsdottir
authors.forename: Jon T
authors.initials: JT
authors.lastname: Bergthorsson
authors.forename: Julius
authors.initials: J
authors.lastname: Gudmundsson
authors.forename: Katja K
authors.initials: KK
authors.lastname: Aben
authors.forename: Luc J
authors.initials: LJ
authors.lastname: Strobbe
authors.forename: Dorine W
authors.initials: DW
authors.lastname: Swinkels
authors.forename: K C Anton
authors.initials: KC
authors.lastname: van Engelenburg
authors.forename: Brian E
authors.initials: BE
authors.lastname: Henderson
authors.forename: Laurence N
authors.initials: LN
authors.lastname: Kolonel
authors.forename: Loic
authors.initials: L
authors.lastname: Le Marchand
authors.forename: Esther
authors.initials: E
authors.lastname: Millastre
authors.forename: Raquel
authors.initials: R
authors.lastname: Andres
authors.forename: Berta
authors.initials: B
authors.lastname: Saez
authors.forename: Julio
authors.initials: J
authors.lastname: Lambea
authors.forename: Javier
authors.initials: J
authors.lastname: Godino
authors.forename: Eduardo
authors.initials: E
authors.lastname: Polo
authors.forename: Alejandro
authors.initials: A
authors.lastname: Tres
authors.forename: Simone
authors.initials: S
authors.lastname: Picelli
authors.forename: Johanna
authors.initials: J
authors.lastname: Rantala
authors.forename: Sara
authors.initials: S
authors.lastname: Margolin
authors.forename: Thorvaldur
authors.initials: T
authors.lastname: Jonsson
authors.forename: Helgi
authors.initials: H
authors.lastname: Sigurdsson
authors.forename: Thora
authors.initials: T
authors.lastname: Jonsdottir
authors.forename: Jon
authors.initials: J
authors.lastname: Hrafnkelsson
authors.forename: Jakob
authors.initials: J
authors.lastname: Johannsson
authors.forename: Thorarinn
authors.initials: T
authors.lastname: Sveinsson
authors.forename: Gardar
authors.initials: G
authors.lastname: Myrdal
authors.forename: Hlynur Niels
authors.initials: HN
authors.lastname: Grimsson
authors.forename: Steinunn G
authors.initials: SG
authors.lastname: Sveinsdottir
authors.forename: Kristin
authors.initials: K
authors.lastname: Alexiusdottir
authors.forename: Jona
authors.initials: J
authors.lastname: Saemundsdottir
authors.forename: Asgeir
authors.initials: A
authors.lastname: Sigurdsson
authors.forename: Jelena
authors.initials: J
authors.lastname: Kostic
authors.forename: Larus
authors.initials: L
authors.lastname: Gudmundsson
authors.forename: Kristleifur
authors.initials: K
authors.lastname: Kristjansson
authors.forename: Gisli
authors.initials: G
authors.lastname: Masson
authors.forename: James D
authors.initials: JD
authors.lastname: Fackenthal
authors.forename: Clement
authors.initials: C
authors.lastname: Adebamowo
authors.forename: Temidayo
authors.initials: T
authors.lastname: Ogundiran
authors.forename: Olufunmilayo I
authors.initials: OI
authors.lastname: Olopade
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Haiman
authors.forename: Annika
authors.initials: A
authors.lastname: Lindblom
authors.forename: Jose I
authors.initials: JI
authors.lastname: Mayordomo
authors.forename: Lambertus A
authors.initials: LA
authors.lastname: Kiemeney
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Gulcher
authors.forename: Thorunn
authors.initials: T
authors.lastname: Rafnar
authors.forename: Unnur
authors.initials: U
authors.lastname: Thorsteinsdottir
authors.forename: Oskar T
authors.initials: OT
authors.lastname: Johannsson
authors.forename: Augustine
authors.initials: A
authors.lastname: Kong
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017209:Apoptosis; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018270:Carcinoma, Ductal, Breast / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002285:Carcinoma, Intraductal, Noninfiltrating / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D018275:Carcinoma, Lobular / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D018276:Carcinoma, Medullary / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D016022:Case-Control Studies; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007390:International Agencies; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics / Q000378:metabolism; D011960:Receptors, Estrogen / Q000378:metabolism*; D012269:Ribosomal Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D011960:Receptors, Estrogen; D012269:Ribosomal Proteins; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2