Genome-wide association analysis identifies three new breast cancer susceptibility loci.
;
Quinten
Waisfisz
;
Hanne
Meijers-Heijboer
;
Andre G
Uitterlinden
;
Fernando
Rivadeneira
;
Netherlands Collaborative Group on Hereditary Breast and Ovarian
;
Per
Hall
;
Kamila
Czene
;
Astrid
Irwanto
;
Jianjun
Liu
;
Heli
Nevanlinna
;
Kristiina
Aittomäki
;
Carl
Blomqvist
;
Alfons
Meindl
;
Rita K
Schmutzler
;
Bertram
Müller-Myhsok
;
Peter
Lichtner
;
Jenny
Chang-Claude
;
Rebecca
Hein
;
Stefan
Nickels
;
Dieter
Flesch-Janys
;
Helen
Tsimiklis
;
Enes
Makalic
;
Daniel
Schmidt
;
Minh
Bui
;
John L
Hopper
;
Carmel
Apicella
;
Daniel J
Park
;
Melissa
Southey
;
David J
Hunter
;
Stephen J
Chanock
;
Annegien
Broeks
;
Senno
Verhoef
;
Frans BL
Hogervorst
;
Peter A
Fasching
;
Michael P
Lux
;
Matthias W
Beckmann
;
Arif B
Ekici
;
Elinor
Sawyer
;
Ian
Tomlinson
;
Michael
Kerin
;
Frederik
Marme
;
Andreas
Schneeweiss
;
Christof
Sohn
;
Barbara
Burwinkel
;
Pascal
Guénel
;
Thérèse
Truong
;
Emilie
Cordina-Duverger
;
Florence
Menegaux
;
Stig E
Bojesen
;
Børge G
Nordestgaard
;
Sune F
Nielsen
;
Henrik
Flyger
;
Roger L
Milne
;
M Rosario
Alonso
;
Anna
González-Neira
;
Javier
Benítez
;
Hoda
Anton-Culver
;
Argyrios
Ziogas
;
Leslie
Bernstein
;
Christina Clarke
Dur
;
Hermann
Brenner
;
Heiko
Müller
;
Volker
Arndt
;
Christa
Stegmaier
;
Familial Breast Cancer Study (FBCS)
;
Christina
Justenhoven
;
Hiltrud
Brauch
;
Thomas
Brüning
;
Gene Environment Interaction of Breast Cancer in Germany (GENICA
;
Shan
Wang-Gohrke
;
Ursula
Eilber
;
Thilo
Dörk
;
Peter
Schürmann
;
Michael
Bremer
;
Peter
Hillemanns
;
Natalia V
Bogdanova
;
Natalia N
Antonenkova
;
Yuri I
Rogov
;
Johann H
Karstens
;
Marina
Bermisheva
;
Darya
Prokofieva
;
Elza
Khusnutdinova
;
Annika
Lindblom
;
Sara
Margolin
;
Arto
Mannermaa
;
Vesa
Kataja
;
Veli-Matti
Kosma
;
Jaana M
Hartikainen
;
Diether
Lambrechts
;
Betul T
Yesilyurt
;
Giuseppe
Floris
;
Karin
Leunen
;
Siranoush
Manoukian
;
Bernardo
Bonanni
;
Stefano
Fortuzzi
;
Paolo
Peterlongo
;
Fergus J
Couch
;
Xianshu
Wang
;
Kristen
Stevens
;
Adam
Lee
;
Graham G
Giles
;
Laura
Baglietto
;
Gianluca
Severi
;
Catriona
McLean
;
Grethe Grenaker
Alnaes
;
Vessela
Kristensen
;
Anne-Lise
Børrensen-Dale
;
Esther M
John
;
Alexander
Miron
;
Robert
Winqvist
;
Katri
Pylkäs
;
Arja
Jukkola-Vuorinen
;
Saila
Kauppila
;
Irene L
Andrulis
;
Gord
Glendon
;
Anna Marie
Mulligan
;
Peter
Devilee
;
Christie J
van Asperen
;
Rob AEM
Tollenaar
;
Caroline
Seynaeve
;
Jonine D
Figueroa
;
Montserrat
Garcia-Closas
;
Louise
Brinton
;
Jolanta
Lissowska
;
Maartje J
Hooning
;
Antoinette
Hollestelle
;
Rogier A
Oldenburg
;
Ans MW
van den Ouweland
;
Angela
Cox
;
Malcolm WR
Reed
;
Mitul
Shah
;
Ania
Jakubowska
;
Jan
Lubinski
;
Katarzyna
Jaworska
;
Katarzyna
Durda
;
Michael
Jones
;
Minouk
Schoemaker
;
Alan
Ashworth
;
Anthony
Swerdlow
;
Jonathan
Beesley
;
Xiaoqing
Chen
;
kConFab Investigators
;
Australian Ovarian Cancer Study Group
;
Kenneth R
Muir
;
Artitaya
Lophatananon
;
Suthee
Rattanamongkongul
;
Arkom
Chaiwerawattana
;
Daehee
Kang
;
Keun-Young
Yoo
;
Dong-Young
Noh
;
Chen-Yang
Shen
;
Jyh-Cherng
Yu
;
Pei-Ei
Wu
;
Chia-Ni
Hsiung
;
Annie
Perkins
;
Ruth
Swann
;
Louiza
Velentzis
;
Diana M
Eccles
;
Will J
Tapper
;
Susan M
Gerty
;
Nikki J
Graham
;
Bruce AJ
Ponder
;
Georgia
Chenevix-Trench
;
Paul DP
Pharoah
;
Mark
Lathrop
;
Alison M
Dunning
;
Nazneen
Rahman
;
Julian
Peto
;
Douglas F
Easton
;
(2012)
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
Nature genetics, 44 (3).
pp. 312-318.
ISSN 1061-4036
DOI: 10.1038/ng.1049
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ∼8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ∼70,000 cases and ∼68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
-
picture_as_pdf - emss-40160.pdf
-
subject - Published Version
-
- Available under Creative Commons: Attribution-NonCommercial-No Derivative Works 3.0