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

Maya Ghoussaini, Olivia Fletcher, Kyriaki Michailidou, Clare Turnbull, Marjanka K. Schmidt, Ed Dicks, Joe Dennis, Qin Wang, Manjeet K. Humphreys, Craig Luccarini, Caroline Baynes, Don Conroy, Melanie Maranian, Shahana Ahmed, Kristy Driver, Nichola Johnson, Nicholas Orr, Isabel Dos Santos Silva, Quinten Waisfisz, Hanne Meijers-HeijboerAndre G. Uitterlinden, Fernando Rivadeneira, Per Hall, Kamila Czene, Astrid Irwanto, Jianjun Liu, Heli Nevanlinna, Kristiina Aittom Currency Signki, 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 B L 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, Thér̈se Truong, Emilie Cordina-Duverger, Florence Menegaux, Stig E. Bojesen, B̧rge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Roger L. Milne, M. Rosario Alonso, Anna Gonzlez-Neira, Javier Ben-tez, Hoda Anton-Culver, Argyrios Ziogas, Leslie Bernstein, Christina Clarke Dur, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Christina Justenhoven, Hiltrud Brauch, Thomas Brüning, Wang Gohrke Shan, 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 Alnæs, Vessela Kristensen, Anne Lise Bcrrensen-Dale, Esther M. John, Alexander Miron, Robert Winqvist, Katri Pylk Currency Signs, Arja Jukkola-Vuorinen, Saila Kauppila, Irene L. Andrulis, Gord Glendon, Anna Marie Mulligan, Peter Devilee, Christie J. Van Asperen, Rob A E M Tollenaar, Caroline Seynaeve, Jonine D. Figueroa, Montserrat Garcia-Closas, Louise Brinton, Jolanta Lissowska, Maartje J. Hooning, Antoinette Hollestelle, Rogier A. Oldenburg, Ans M W Van Den Ouweland, Angela Cox, Malcolm W R Reed, Mitul Shah, Ania Jakubowska, Lubinski Jan, Katarzyna Jaworska, Katarzyna Durda, Michael Jones, Minouk Schoemaker, Alan Ashworth, Anthony Swerdlow, Jonathan Beesley, Xiaoqing Chen, 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 A J Ponder, Georgia Chenevix-Trench, Paul D P Pharoah, Mark Lathrop, Alison M. Dunning, Nazneen Rahman, Julian Peto, Douglas F. Easton

Research output: Contribution to journalArticle

200 Citations (Scopus)

Abstract

Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for g1/48% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in g1/470,000 cases and ĝ̂1/468,000 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 g 35), 12q24 (rs1292011; P = 4.3 - 10 g 19) and 21q21 (rs2823093; P = 1.1 - 10 g 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.

Original languageEnglish (US)
Pages (from-to)312-318
Number of pages7
JournalNature Genetics
Volume44
Issue number3
DOIs
StatePublished - Mar 2012

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Genome-Wide Association Study
Breast Neoplasms
Estrogen Receptors
Bone Development
Human Mammary Glands
Case-Control Studies
Neoplasm Metastasis
Growth
Genes
Neoplasms

ASJC Scopus subject areas

  • Genetics

Cite this

Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M. K., Dicks, E., ... Easton, D. F. (2012). Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature Genetics, 44(3), 312-318. https://doi.org/10.1038/ng.1049

Genome-wide association analysis identifies three new breast cancer susceptibility loci. / 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; Aittom Currency Signki, 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, Thér̈se; Cordina-Duverger, Emilie; Menegaux, Florence; Bojesen, Stig E.; Nordestgaard, B̧rge G.; Nielsen, Sune F.; Flyger, Henrik; Milne, Roger L.; Alonso, M. Rosario; Gonzlez-Neira, Anna; Ben-tez, 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; Shan, Wang Gohrke; 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; Bcrrensen-Dale, Anne Lise; John, Esther M.; Miron, Alexander; Winqvist, Robert; Pylk Currency Signs, 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; Jan, Lubinski; 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; Easton, Douglas F.

In: Nature Genetics, Vol. 44, No. 3, 03.2012, p. 312-318.

Research output: Contribution to journalArticle

Ghoussaini, M, Fletcher, O, Michailidou, K, Turnbull, C, Schmidt, MK, Dicks, E, Dennis, J, Wang, Q, Humphreys, MK, Luccarini, C, Baynes, C, Conroy, D, Maranian, M, Ahmed, S, Driver, K, Johnson, N, Orr, N, Dos Santos Silva, I, Waisfisz, Q, Meijers-Heijboer, H, Uitterlinden, AG, Rivadeneira, F, Hall, P, Czene, K, Irwanto, A, Liu, J, Nevanlinna, H, Aittom Currency Signki, K, Blomqvist, C, Meindl, A, Schmutzler, RK, Müller-Myhsok, B, Lichtner, P, Chang-Claude, J, Hein, R, Nickels, S, Flesch-Janys, D, Tsimiklis, H, Makalic, E, Schmidt, D, Bui, M, Hopper, JL, Apicella, C, Park, DJ, Southey, M, Hunter, DJ, Chanock, SJ, Broeks, A, Verhoef, S, Hogervorst, FBL, Fasching, PA, Lux, MP, Beckmann, MW, Ekici, AB, Sawyer, E, Tomlinson, I, Kerin, M, Marme, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guénel, P, Truong, T, Cordina-Duverger, E, Menegaux, F, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Milne, RL, Alonso, MR, Gonzlez-Neira, A, Ben-tez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Dur, CC, Brenner, H, Müller, H, Arndt, V, Stegmaier, C, Justenhoven, C, Brauch, H, Brüning, T, Shan, WG, Eilber, U, Dörk, T, Schürmann, P, Bremer, M, Hillemanns, P, Bogdanova, NV, Antonenkova, NN, Rogov, YI, Karstens, JH, Bermisheva, M, Prokofieva, D, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Lambrechts, D, Yesilyurt, BT, Floris, G, Leunen, K, Manoukian, S, Bonanni, B, Fortuzzi, S, Peterlongo, P, Couch, FJ, Wang, X, Stevens, K, Lee, A, Giles, GG, Baglietto, L, Severi, G, McLean, C, Alnæs, GG, Kristensen, V, Bcrrensen-Dale, AL, John, EM, Miron, A, Winqvist, R, Pylk Currency Signs, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, IL, Glendon, G, Mulligan, AM, Devilee, P, Van Asperen, CJ, Tollenaar, RAEM, Seynaeve, C, Figueroa, JD, Garcia-Closas, M, Brinton, L, Lissowska, J, Hooning, MJ, Hollestelle, A, Oldenburg, RA, Van Den Ouweland, AMW, Cox, A, Reed, MWR, Shah, M, Jakubowska, A, Jan, L, Jaworska, K, Durda, K, Jones, M, Schoemaker, M, Ashworth, A, Swerdlow, A, Beesley, J, Chen, X, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Chaiwerawattana, A, Kang, D, Yoo, KY, Noh, DY, Shen, CY, Yu, JC, Wu, PE, Hsiung, CN, Perkins, A, Swann, R, Velentzis, L, Eccles, DM, Tapper, WJ, Gerty, SM, Graham, NJ, Ponder, BAJ, Chenevix-Trench, G, Pharoah, PDP, Lathrop, M, Dunning, AM, Rahman, N, Peto, J & Easton, DF 2012, 'Genome-wide association analysis identifies three new breast cancer susceptibility loci', Nature Genetics, vol. 44, no. 3, pp. 312-318. https://doi.org/10.1038/ng.1049
Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E et al. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature Genetics. 2012 Mar;44(3):312-318. https://doi.org/10.1038/ng.1049
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 ; Aittom Currency Signki, 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, Thér̈se ; Cordina-Duverger, Emilie ; Menegaux, Florence ; Bojesen, Stig E. ; Nordestgaard, B̧rge G. ; Nielsen, Sune F. ; Flyger, Henrik ; Milne, Roger L. ; Alonso, M. Rosario ; Gonzlez-Neira, Anna ; Ben-tez, 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 ; Shan, Wang Gohrke ; 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 ; Bcrrensen-Dale, Anne Lise ; John, Esther M. ; Miron, Alexander ; Winqvist, Robert ; Pylk Currency Signs, 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 ; Jan, Lubinski ; 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 ; Easton, Douglas F. / Genome-wide association analysis identifies three new breast cancer susceptibility loci. In: Nature Genetics. 2012 ; Vol. 44, No. 3. pp. 312-318.
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title = "Genome-wide association analysis identifies three new breast cancer susceptibility loci",
abstract = "Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for g1/48{\%} of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in g1/470,000 cases and ĝ̂1/468,000 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 g 35), 12q24 (rs1292011; P = 4.3 - 10 g 19) and 21q21 (rs2823093; P = 1.1 - 10 g 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.",
author = "Maya Ghoussaini and Olivia Fletcher and Kyriaki Michailidou and Clare Turnbull and Schmidt, {Marjanka K.} and Ed Dicks and Joe Dennis and Qin Wang and Humphreys, {Manjeet K.} and Craig Luccarini and Caroline Baynes and Don Conroy and Melanie Maranian and Shahana Ahmed and Kristy Driver and Nichola Johnson and Nicholas Orr and {Dos Santos Silva}, Isabel and Quinten Waisfisz and Hanne Meijers-Heijboer and Uitterlinden, {Andre G.} and Fernando Rivadeneira and Per Hall and Kamila Czene and Astrid Irwanto and Jianjun Liu and Heli Nevanlinna and {Aittom Currency Signki}, Kristiina and Carl Blomqvist and Alfons Meindl and Schmutzler, {Rita K.} and Bertram M{\"u}ller-Myhsok and Peter Lichtner and Jenny Chang-Claude and Rebecca Hein and Stefan Nickels and Dieter Flesch-Janys and Helen Tsimiklis and Enes Makalic and Daniel Schmidt and Minh Bui and Hopper, {John L.} and Carmel Apicella and Park, {Daniel J.} and Melissa Southey and Hunter, {David J.} and Chanock, {Stephen J.} and Annegien Broeks and Senno Verhoef and Hogervorst, {Frans B L} and Fasching, {Peter A.} and Lux, {Michael P.} and Beckmann, {Matthias W.} and Ekici, {Arif B.} and Elinor Sawyer and Ian Tomlinson and Michael Kerin and Frederik Marme and Andreas Schneeweiss and Christof Sohn and Barbara Burwinkel and Pascal Gu{\'e}nel and Th{\'e}r̈se Truong and Emilie Cordina-Duverger and Florence Menegaux and Bojesen, {Stig E.} and Nordestgaard, {B̧rge G.} and Nielsen, {Sune F.} and Henrik Flyger and Milne, {Roger L.} and Alonso, {M. Rosario} and Anna Gonzlez-Neira and Javier Ben-tez and Hoda Anton-Culver and Argyrios Ziogas and Leslie Bernstein and Dur, {Christina Clarke} and Hermann Brenner and Heiko M{\"u}ller and Volker Arndt and Christa Stegmaier and Christina Justenhoven and Hiltrud Brauch and Thomas Br{\"u}ning and Shan, {Wang Gohrke} and Ursula Eilber and Thilo D{\"o}rk and Peter Sch{\"u}rmann and Michael Bremer and Peter Hillemanns and Bogdanova, {Natalia V.} and Antonenkova, {Natalia N.} and Rogov, {Yuri I.} and Karstens, {Johann H.} and Marina Bermisheva and Darya Prokofieva and Elza Khusnutdinova and Annika Lindblom and Sara Margolin and Arto Mannermaa and Vesa Kataja and Kosma, {Veli Matti} and Hartikainen, {Jaana M.} and Diether Lambrechts and Yesilyurt, {Betul T.} and Giuseppe Floris and Karin Leunen and Siranoush Manoukian and Bernardo Bonanni and Stefano Fortuzzi and Paolo Peterlongo and Couch, {Fergus J} and Xianshu Wang and Kristen Stevens and Adam Lee and Giles, {Graham G.} and Laura Baglietto and Gianluca Severi and Catriona McLean and Aln{\ae}s, {Grethe Grenaker} and Vessela Kristensen and Bcrrensen-Dale, {Anne Lise} and John, {Esther M.} and Alexander Miron and Robert Winqvist and {Pylk Currency Signs}, Katri and Arja Jukkola-Vuorinen and Saila Kauppila and Andrulis, {Irene L.} and Gord Glendon and Mulligan, {Anna Marie} and Peter Devilee and {Van Asperen}, {Christie J.} and Tollenaar, {Rob A E M} and Caroline Seynaeve and Figueroa, {Jonine D.} and Montserrat Garcia-Closas and Louise Brinton and Jolanta Lissowska and Hooning, {Maartje J.} and Antoinette Hollestelle and Oldenburg, {Rogier A.} and {Van Den Ouweland}, {Ans M W} and Angela Cox and Reed, {Malcolm W R} and Mitul Shah and Ania Jakubowska and Lubinski Jan and Katarzyna Jaworska and Katarzyna Durda and Michael Jones and Minouk Schoemaker and Alan Ashworth and Anthony Swerdlow and Jonathan Beesley and Xiaoqing Chen and Muir, {Kenneth R.} and Artitaya Lophatananon and Suthee Rattanamongkongul and Arkom Chaiwerawattana and Daehee Kang and Yoo, {Keun Young} and Noh, {Dong Young} and Shen, {Chen Yang} and Yu, {Jyh Cherng} and Wu, {Pei Ei} and Hsiung, {Chia Ni} and Annie Perkins and Ruth Swann and Louiza Velentzis and Eccles, {Diana M.} and Tapper, {Will J.} and Gerty, {Susan M.} and Graham, {Nikki J.} and Ponder, {Bruce A J} and Georgia Chenevix-Trench and Pharoah, {Paul D P} and Mark Lathrop and Dunning, {Alison M.} and Nazneen Rahman and Julian Peto and Easton, {Douglas F.}",
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TY - JOUR

T1 - Genome-wide association analysis identifies three new breast cancer susceptibility loci

AU - Ghoussaini, Maya

AU - Fletcher, Olivia

AU - Michailidou, Kyriaki

AU - Turnbull, Clare

AU - Schmidt, Marjanka K.

AU - Dicks, Ed

AU - Dennis, Joe

AU - Wang, Qin

AU - Humphreys, Manjeet K.

AU - Luccarini, Craig

AU - Baynes, Caroline

AU - Conroy, Don

AU - Maranian, Melanie

AU - Ahmed, Shahana

AU - Driver, Kristy

AU - Johnson, Nichola

AU - Orr, Nicholas

AU - Dos Santos Silva, Isabel

AU - Waisfisz, Quinten

AU - Meijers-Heijboer, Hanne

AU - Uitterlinden, Andre G.

AU - Rivadeneira, Fernando

AU - Hall, Per

AU - Czene, Kamila

AU - Irwanto, Astrid

AU - Liu, Jianjun

AU - Nevanlinna, Heli

AU - Aittom Currency Signki, Kristiina

AU - Blomqvist, Carl

AU - Meindl, Alfons

AU - Schmutzler, Rita K.

AU - Müller-Myhsok, Bertram

AU - Lichtner, Peter

AU - Chang-Claude, Jenny

AU - Hein, Rebecca

AU - Nickels, Stefan

AU - Flesch-Janys, Dieter

AU - Tsimiklis, Helen

AU - Makalic, Enes

AU - Schmidt, Daniel

AU - Bui, Minh

AU - Hopper, John L.

AU - Apicella, Carmel

AU - Park, Daniel J.

AU - Southey, Melissa

AU - Hunter, David J.

AU - Chanock, Stephen J.

AU - Broeks, Annegien

AU - Verhoef, Senno

AU - Hogervorst, Frans B L

AU - Fasching, Peter A.

AU - Lux, Michael P.

AU - Beckmann, Matthias W.

AU - Ekici, Arif B.

AU - Sawyer, Elinor

AU - Tomlinson, Ian

AU - Kerin, Michael

AU - Marme, Frederik

AU - Schneeweiss, Andreas

AU - Sohn, Christof

AU - Burwinkel, Barbara

AU - Guénel, Pascal

AU - Truong, Thér̈se

AU - Cordina-Duverger, Emilie

AU - Menegaux, Florence

AU - Bojesen, Stig E.

AU - Nordestgaard, B̧rge G.

AU - Nielsen, Sune F.

AU - Flyger, Henrik

AU - Milne, Roger L.

AU - Alonso, M. Rosario

AU - Gonzlez-Neira, Anna

AU - Ben-tez, Javier

AU - Anton-Culver, Hoda

AU - Ziogas, Argyrios

AU - Bernstein, Leslie

AU - Dur, Christina Clarke

AU - Brenner, Hermann

AU - Müller, Heiko

AU - Arndt, Volker

AU - Stegmaier, Christa

AU - Justenhoven, Christina

AU - Brauch, Hiltrud

AU - Brüning, Thomas

AU - Shan, Wang Gohrke

AU - Eilber, Ursula

AU - Dörk, Thilo

AU - Schürmann, Peter

AU - Bremer, Michael

AU - Hillemanns, Peter

AU - Bogdanova, Natalia V.

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PY - 2012/3

Y1 - 2012/3

N2 - Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for g1/48% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in g1/470,000 cases and ĝ̂1/468,000 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 g 35), 12q24 (rs1292011; P = 4.3 - 10 g 19) and 21q21 (rs2823093; P = 1.1 - 10 g 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.

AB - Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for g1/48% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in g1/470,000 cases and ĝ̂1/468,000 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 g 35), 12q24 (rs1292011; P = 4.3 - 10 g 19) and 21q21 (rs2823093; P = 1.1 - 10 g 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.

UR - http://www.scopus.com/inward/record.url?scp=84862776961&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84862776961&partnerID=8YFLogxK

U2 - 10.1038/ng.1049

DO - 10.1038/ng.1049

M3 - Article

C2 - 22267197

AN - SCOPUS:84862776961

VL - 44

SP - 312

EP - 318

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 3

ER -