Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.
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.
Stacey
Simon N
SN
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. simon.stacey@decode.is
Manolescu
Andrei
A
Sulem
Patrick
P
Thorlacius
Steinunn
S
Gudjonsson
Sigurjon A
SA
Jonsson
Gudbjörn F
GF
Jakobsdottir
Margret
M
Bergthorsson
Jon T
JT
Gudmundsson
Julius
J
Aben
Katja K
KK
Strobbe
Luc J
LJ
Swinkels
Dorine W
DW
van Engelenburg
K C Anton
KC
Henderson
Brian E
BE
Kolonel
Laurence N
LN
Le Marchand
Loic
L
Millastre
Esther
E
Andres
Raquel
R
Saez
Berta
B
Lambea
Julio
J
Godino
Javier
J
Polo
Eduardo
E
Tres
Alejandro
A
Picelli
Simone
S
Rantala
Johanna
J
Margolin
Sara
S
Jonsson
Thorvaldur
T
Sigurdsson
Helgi
H
Jonsdottir
Thora
T
Hrafnkelsson
Jon
J
Johannsson
Jakob
J
Sveinsson
Thorarinn
T
Myrdal
Gardar
G
Grimsson
Hlynur Niels
HN
Sveinsdottir
Steinunn G
SG
Alexiusdottir
Kristin
K
Saemundsdottir
Jona
J
Sigurdsson
Asgeir
A
Kostic
Jelena
J
Gudmundsson
Larus
L
Kristjansson
Kristleifur
K
Masson
Gisli
G
Fackenthal
James D
JD
Adebamowo
Clement
C
Ogundiran
Temidayo
T
Olopade
Olufunmilayo I
OI
Haiman
Christopher A
CA
Lindblom
Annika
A
Mayordomo
Jose I
JI
Kiemeney
Lambertus A
LA
Gulcher
Jeffrey R
JR
Rafnar
Thorunn
T
Thorsteinsdottir
Unnur
U
Johannsson
Oskar T
OT
Kong
Augustine
A
Stefansson
Kari
K
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
D011960:Receptors, Estrogen; D012269:Ribosomal Proteins; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2