The University of Southampton
University of Southampton Institutional Repository

Genome-wide association analysis identifies three new breast cancer susceptibility loci

Genome-wide association analysis identifies three new breast cancer susceptibility loci
Genome-wide association analysis identifies three new breast cancer susceptibility loci
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.
1061-4036
312-318
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Leunen, Karin
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Mulligan, Anna Marie
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van Asperen, Christie J.
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Garcia-Closas, Montserrat
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van den Ouweland, Ans M.W.
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Shah, Mitul
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Jakubowska, Ania
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Lubinski, Jan
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Jones, Michael
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Schoemaker, Minouk
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Ashworth, Alan
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Swerdlow, Anthony
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Chen, Xiaoqing
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Muir, Kenneth R.
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Ghoussaini, Maya, Fletcher, Olivia, Michailidou, Kyriaki, Turnbull, Clare, Schmidt, Marjanka K., Dicks, Ed, Dennis, Joe, Wang, Qin, Humphreys, Manjeet K., Luccarini, Craig, Baynes, Caroline, Conroy, Don, Maranian, Melanie, Ahmed, Shahana, Driver, Kristy, Johnson, Nichola, Orr, Nicholas, dos Santos Silva, Isabel, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Uitterlinden, Andre G., Rivadeneira, Fernando, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Chang-Claude, Jenny, Hein, Rebecca, Nickels, Stefan, Flesch-Janys, Dieter, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel, Bui, Minh, Hopper, John L., Apicella, Carmel, Park, Daniel J., Southey, Melissa, Hunter, David J., Chanock, Stephen J., Broeks, Annegien, Verhoef, Senno, Hogervorst, Frans B.L., Fasching, Peter A., Lux, Michael P., Beckmann, Matthias W., Ekici, Arif B., Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Alonso, M. Rosario, González-Neira, Anna, Benítez, Javier, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Dur, Christina Clarke, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Justenhoven, Christina, Brauch, Hiltrud, Brüning, Thomas, Wang-Gohrke, Shan, Eilber, Ursula, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Bogdanova, Natalia V., Antonenkova, Natalia N., Rogov, Yuri I., Karstens, Johann H., Bermisheva, Marina, Prokofieva, Darya, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Lambrechts, Diether, Yesilyurt, Betul T., Floris, Giuseppe, Leunen, Karin, Manoukian, Siranoush, Bonanni, Bernardo, Fortuzzi, Stefano, Peterlongo, Paolo, Couch, Fergus J., Wang, Xianshu, Stevens, Kristen, Lee, Adam, Giles, Graham G., Baglietto, Laura, Severi, Gianluca, McLean, Catriona, Alnæs, Grethe Grenaker, Kristensen, Vessela, Børrensen-Dale, Anne-Lise, John, Esther M., Miron, Alexander, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Glendon, Gord, Mulligan, Anna Marie, Devilee, Peter, van Asperen, Christie J., Tollenaar, Rob A.E.M., Seynaeve, Caroline, Figueroa, Jonine D., Garcia-Closas, Montserrat, Brinton, Louise, Lissowska, Jolanta, Hooning, Maartje J., Hollestelle, Antoinette, Oldenburg, Rogier A., van den Ouweland, Ans M.W., Cox, Angela, Reed, Malcolm W.R., Shah, Mitul, Jakubowska, Ania, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Jones, Michael, Schoemaker, Minouk, Ashworth, Alan, Swerdlow, Anthony, Beesley, Jonathan, Chen, Xiaoqing, Muir, Kenneth R., Lophatananon, Artitaya, Rattanamongkongul, Suthee, Chaiwerawattana, Arkom, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Shen, Chen-Yang, Yu, Jyh-Cherng, Wu, Pei-Ei, Hsiung, Chia-Ni, Perkins, Annie, Swann, Ruth, Velentzis, Louiza, Eccles, Diana M., Tapper, Will J., Gerty, Susan M., Graham, Nikki J., Ponder, Bruce A.J., Chenevix-Trench, Georgia, Pharoah, Paul D.P., Lathrop, Mark, Dunning, Alison M., Rahman, Nazneen, Peto, Julian and Easton, Douglas F. (2012) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature Genetics, 44 (3), 312-318. (doi:10.1038/ng.1049). (PMID:22267197)

Record type: Article

Abstract

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.

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Published date: 22 January 2012
Organisations: Cancer Sciences, Human Development & Health

Identifiers

Local EPrints ID: 352308
URI: https://eprints.soton.ac.uk/id/eprint/352308
ISSN: 1061-4036
PURE UUID: c90e7bde-f212-41e5-a3c8-29454adce3f6

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Date deposited: 09 May 2013 11:16
Last modified: 04 Dec 2017 17:32

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Contributors

Author: Maya Ghoussaini
Author: Olivia Fletcher
Author: Kyriaki Michailidou
Author: Clare Turnbull
Author: Marjanka K. Schmidt
Author: Ed Dicks
Author: Joe Dennis
Author: Qin Wang
Author: Manjeet K. Humphreys
Author: Craig Luccarini
Author: Caroline Baynes
Author: Don Conroy
Author: Melanie Maranian
Author: Shahana Ahmed
Author: Kristy Driver
Author: Nichola Johnson
Author: Nicholas Orr
Author: Isabel dos Santos Silva
Author: Quinten Waisfisz
Author: Hanne Meijers-Heijboer
Author: Andre G. Uitterlinden
Author: Fernando Rivadeneira
Author: Per Hall
Author: Kamila Czene
Author: Astrid Irwanto
Author: Jianjun Liu
Author: Heli Nevanlinna
Author: Kristiina Aittomäki
Author: Carl Blomqvist
Author: Alfons Meindl
Author: Rita K. Schmutzler
Author: Bertram Müller-Myhsok
Author: Peter Lichtner
Author: Jenny Chang-Claude
Author: Rebecca Hein
Author: Stefan Nickels
Author: Dieter Flesch-Janys
Author: Helen Tsimiklis
Author: Enes Makalic
Author: Daniel Schmidt
Author: Minh Bui
Author: John L. Hopper
Author: Carmel Apicella
Author: Daniel J. Park
Author: Melissa Southey
Author: David J. Hunter
Author: Stephen J. Chanock
Author: Annegien Broeks
Author: Senno Verhoef
Author: Frans B.L. Hogervorst
Author: Peter A. Fasching
Author: Michael P. Lux
Author: Matthias W. Beckmann
Author: Arif B. Ekici
Author: Elinor Sawyer
Author: Ian Tomlinson
Author: Michael Kerin
Author: Frederik Marme
Author: Andreas Schneeweiss
Author: Christof Sohn
Author: Barbara Burwinkel
Author: Pascal Guénel
Author: Thérèse Truong
Author: Emilie Cordina-Duverger
Author: Florence Menegaux
Author: Stig E. Bojesen
Author: Børge G. Nordestgaard
Author: Sune F. Nielsen
Author: Henrik Flyger
Author: Roger L. Milne
Author: M. Rosario Alonso
Author: Anna González-Neira
Author: Javier Benítez
Author: Hoda Anton-Culver
Author: Argyrios Ziogas
Author: Leslie Bernstein
Author: Christina Clarke Dur
Author: Hermann Brenner
Author: Heiko Müller
Author: Volker Arndt
Author: Christa Stegmaier
Author: Christina Justenhoven
Author: Hiltrud Brauch
Author: Thomas Brüning
Author: Shan Wang-Gohrke
Author: Ursula Eilber
Author: Thilo Dörk
Author: Peter Schürmann
Author: Michael Bremer
Author: Peter Hillemanns
Author: Natalia V. Bogdanova
Author: Natalia N. Antonenkova
Author: Yuri I. Rogov
Author: Johann H. Karstens
Author: Marina Bermisheva
Author: Darya Prokofieva
Author: Elza Khusnutdinova
Author: Annika Lindblom
Author: Sara Margolin
Author: Arto Mannermaa
Author: Vesa Kataja
Author: Veli-Matti Kosma
Author: Jaana M. Hartikainen
Author: Diether Lambrechts
Author: Betul T. Yesilyurt
Author: Giuseppe Floris
Author: Karin Leunen
Author: Siranoush Manoukian
Author: Bernardo Bonanni
Author: Stefano Fortuzzi
Author: Paolo Peterlongo
Author: Fergus J. Couch
Author: Xianshu Wang
Author: Kristen Stevens
Author: Adam Lee
Author: Graham G. Giles
Author: Laura Baglietto
Author: Gianluca Severi
Author: Catriona McLean
Author: Grethe Grenaker Alnæs
Author: Vessela Kristensen
Author: Anne-Lise Børrensen-Dale
Author: Esther M. John
Author: Alexander Miron
Author: Robert Winqvist
Author: Katri Pylkäs
Author: Arja Jukkola-Vuorinen
Author: Saila Kauppila
Author: Irene L. Andrulis
Author: Gord Glendon
Author: Anna Marie Mulligan
Author: Peter Devilee
Author: Christie J. van Asperen
Author: Rob A.E.M. Tollenaar
Author: Caroline Seynaeve
Author: Jonine D. Figueroa
Author: Montserrat Garcia-Closas
Author: Louise Brinton
Author: Jolanta Lissowska
Author: Maartje J. Hooning
Author: Antoinette Hollestelle
Author: Rogier A. Oldenburg
Author: Ans M.W. van den Ouweland
Author: Angela Cox
Author: Malcolm W.R. Reed
Author: Mitul Shah
Author: Ania Jakubowska
Author: Jan Lubinski
Author: Katarzyna Jaworska
Author: Katarzyna Durda
Author: Michael Jones
Author: Minouk Schoemaker
Author: Alan Ashworth
Author: Anthony Swerdlow
Author: Jonathan Beesley
Author: Xiaoqing Chen
Author: Kenneth R. Muir
Author: Artitaya Lophatananon
Author: Suthee Rattanamongkongul
Author: Arkom Chaiwerawattana
Author: Daehee Kang
Author: Keun-Young Yoo
Author: Dong-Young Noh
Author: Chen-Yang Shen
Author: Jyh-Cherng Yu
Author: Pei-Ei Wu
Author: Chia-Ni Hsiung
Author: Annie Perkins
Author: Ruth Swann
Author: Louiza Velentzis
Author: Diana M. Eccles
Author: Will J. Tapper
Author: Susan M. Gerty
Author: Nikki J. Graham
Author: Bruce A.J. Ponder
Author: Georgia Chenevix-Trench
Author: Paul D.P. Pharoah
Author: Mark Lathrop
Author: Alison M. Dunning
Author: Nazneen Rahman
Author: Julian Peto
Author: Douglas F. Easton

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