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

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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; Isabel, Dos Santos Silva; Waisfisz, Quinten; Meijers-Heijboer, Hanne; Uitterlinden, Andre G; Rivadeneira, Fernando; Breast, Netherlands Collaborative Group On Hereditary; Cancer, Ovarian; 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; Flesch-Janys, Dieter; 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; Study, Familial Breast Cancer; Justenhoven, Christina; Brauch, Hiltrud; Brüning, Thomas; Network, Gene Environment Interaction Of Breast Cancer In Germany; 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; Alnaes, 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; Asperen, van; 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; Ouweland, van den; 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; Group, Australian Ovarian Cancer Study; 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: NAT GENET, Vol. 44, No. 3, 3, 2012, p. 312-318.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

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, Isabel, DSS, Waisfisz, Q, Meijers-Heijboer, H, Uitterlinden, AG, Rivadeneira, F, Breast, NCGOH, Cancer, O, Hall, P, Czene, K, Irwanto, A, Liu, J, Nevanlinna, H, Aittomäki, K, Blomqvist, C, Meindl, A, Schmutzler, RK, Müller-Myhsok, B, Lichtner, P, Chang-Claude, J, Hein, R, Flesch-Janys, D, 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, González-Neira, A, Benítez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Dur, CC, Brenner, H, Müller, H, Arndt, V, Stegmaier, C, Study, FBC, Justenhoven, C, Brauch, H, Brüning, T, Network, GEIOBCIG, Wang-Gohrke, S, 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, V-M, 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, Alnaes, GG, Kristensen, V, Børrensen-Dale, A-L, John, EM, Miron, A, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, IL, Glendon, G, Mulligan, AM, Devilee, P, Asperen, V, Christie, J, Tollenaar, RAEM, Seynaeve, C, Figueroa, JD, Garcia-Closas, M, Brinton, L, Lissowska, J, Hooning, MJ, Hollestelle, A, Oldenburg, RA, Ouweland, VD, Ans, MW, Cox, A, Reed, MWR, Shah, M, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Jones, M, Schoemaker, M, Ashworth, A, Swerdlow, A, Beesley, J, Chen, X, Group, AOCS, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Chaiwerawattana, A, Kang, D, Yoo, K-Y, Noh, D-Y, Shen, C-Y, Yu, J-C, Wu, P-E, Hsiung, C-N, 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.', NAT GENET, vol. 44, no. 3, 3, pp. 312-318. <http://www.ncbi.nlm.nih.gov/pubmed/22267197?dopt=Citation>

APA

Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M. K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M. K., Luccarini, C., Baynes, C., Conroy, D., Maranian, M., Ahmed, S., Driver, K., Johnson, N., Orr, N., Isabel, D. S. S., Waisfisz, Q., ... Easton, D. F. (2012). Genome-wide association analysis identifies three new breast cancer susceptibility loci. NAT GENET, 44(3), 312-318. [3]. http://www.ncbi.nlm.nih.gov/pubmed/22267197?dopt=Citation

Vancouver

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. NAT GENET. 2012;44(3):312-318. 3.

Bibtex

@article{40823b01979b40918cc932725f92cb92,
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 ?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.",
keywords = "Humans, Female, Logistic Models, Genome-Wide Association Study, Breast Neoplasms/*genetics, European Continental Ancestry Group/genetics, Polymorphism, Single Nucleotide/genetics, Genetic Predisposition to Disease/*genetics, Principal Component Analysis, Genetic Loci/*genetics, Chromosomes, Human, Pair 12/*genetics, Chromosomes, Human, Pair 21/*genetics, Humans, Female, Logistic Models, Genome-Wide Association Study, Breast Neoplasms/*genetics, European Continental Ancestry Group/genetics, Polymorphism, Single Nucleotide/genetics, Genetic Predisposition to Disease/*genetics, Principal Component Analysis, Genetic Loci/*genetics, Chromosomes, Human, Pair 12/*genetics, Chromosomes, Human, Pair 21/*genetics",
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 Isabel, {Dos Santos Silva} and Quinten Waisfisz and Hanne Meijers-Heijboer and Uitterlinden, {Andre G} and Fernando Rivadeneira and Breast, {Netherlands Collaborative Group On Hereditary} and Ovarian Cancer and Per Hall and Kamila Czene and Astrid Irwanto and Jianjun Liu and Heli Nevanlinna and Kristiina Aittom{\"a}ki 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 Dieter Flesch-Janys 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}r{\`e}se Truong and Emilie Cordina-Duverger and Florence Menegaux and Bojesen, {Stig E} and Nordestgaard, {B{\o}rge G} and Nielsen, {Sune F} and Henrik Flyger and Milne, {Roger L} and Alonso, {M Rosario} and Anna Gonz{\'a}lez-Neira and Javier Ben{\'i}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 Study, {Familial Breast Cancer} and Christina Justenhoven and Hiltrud Brauch and Thomas Br{\"u}ning and Network, {Gene Environment Interaction Of Breast Cancer In Germany} 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 Veli-Matti Kosma 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 Alnaes, {Grethe Grenaker} and Vessela Kristensen and Anne-Lise B{\o}rrensen-Dale and John, {Esther M} and Alexander Miron and Robert Winqvist and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Saila Kauppila and Andrulis, {Irene L} and Gord Glendon and Mulligan, {Anna Marie} and Peter Devilee and van Asperen and J Christie 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 Ouweland, {van den} and Ans, {M W} and Angela Cox and Reed, {Malcolm W R} and Mitul Shah and Ania Jakubowska and Jan Lubinski 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 Group, {Australian Ovarian Cancer Study} and Muir, {Kenneth R} and Artitaya Lophatananon and Suthee Rattanamongkongul and Arkom Chaiwerawattana and Daehee Kang and Keun-Young Yoo and Dong-Young Noh and Chen-Yang Shen and Jyh-Cherng Yu and Pei-Ei Wu and Chia-Ni Hsiung 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}",
year = "2012",
language = "English",
volume = "44",
pages = "312--318",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "3",

}

RIS

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 - Isabel, Dos Santos Silva

AU - Waisfisz, Quinten

AU - Meijers-Heijboer, Hanne

AU - Uitterlinden, Andre G

AU - Rivadeneira, Fernando

AU - Breast, Netherlands Collaborative Group On Hereditary

AU - Cancer, Ovarian

AU - Hall, Per

AU - Czene, Kamila

AU - Irwanto, Astrid

AU - Liu, Jianjun

AU - Nevanlinna, Heli

AU - Aittomäki, 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 - Flesch-Janys, Dieter

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, Thérèse

AU - Cordina-Duverger, Emilie

AU - Menegaux, Florence

AU - Bojesen, Stig E

AU - Nordestgaard, Børge G

AU - Nielsen, Sune F

AU - Flyger, Henrik

AU - Milne, Roger L

AU - Alonso, M Rosario

AU - González-Neira, Anna

AU - Benítez, 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 - Study, Familial Breast Cancer

AU - Justenhoven, Christina

AU - Brauch, Hiltrud

AU - Brüning, Thomas

AU - Network, Gene Environment Interaction Of Breast Cancer In Germany

AU - Wang-Gohrke, Shan

AU - Eilber, Ursula

AU - Dörk, Thilo

AU - Schürmann, Peter

AU - Bremer, Michael

AU - Hillemanns, Peter

AU - Bogdanova, Natalia V

AU - Antonenkova, Natalia N

AU - Rogov, Yuri I

AU - Karstens, Johann H

AU - Bermisheva, Marina

AU - Prokofieva, Darya

AU - Khusnutdinova, Elza

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli-Matti

AU - Hartikainen, Jaana M

AU - Lambrechts, Diether

AU - Yesilyurt, Betul T

AU - Floris, Giuseppe

AU - Leunen, Karin

AU - Manoukian, Siranoush

AU - Bonanni, Bernardo

AU - Fortuzzi, Stefano

AU - Peterlongo, Paolo

AU - Couch, Fergus J

AU - Wang, Xianshu

AU - Stevens, Kristen

AU - Lee, Adam

AU - Giles, Graham G

AU - Baglietto, Laura

AU - Severi, Gianluca

AU - McLean, Catriona

AU - Alnaes, Grethe Grenaker

AU - Kristensen, Vessela

AU - Børrensen-Dale, Anne-Lise

AU - John, Esther M

AU - Miron, Alexander

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Kauppila, Saila

AU - Andrulis, Irene L

AU - Glendon, Gord

AU - Mulligan, Anna Marie

AU - Devilee, Peter

AU - Asperen, van

AU - Christie, J

AU - Tollenaar, Rob A E M

AU - Seynaeve, Caroline

AU - Figueroa, Jonine D

AU - Garcia-Closas, Montserrat

AU - Brinton, Louise

AU - Lissowska, Jolanta

AU - Hooning, Maartje J

AU - Hollestelle, Antoinette

AU - Oldenburg, Rogier A

AU - Ouweland, van den

AU - Ans, M W

AU - Cox, Angela

AU - Reed, Malcolm W R

AU - Shah, Mitul

AU - Jakubowska, Ania

AU - Lubinski, Jan

AU - Jaworska, Katarzyna

AU - Durda, Katarzyna

AU - Jones, Michael

AU - Schoemaker, Minouk

AU - Ashworth, Alan

AU - Swerdlow, Anthony

AU - Beesley, Jonathan

AU - Chen, Xiaoqing

AU - Group, Australian Ovarian Cancer Study

AU - Muir, Kenneth R

AU - Lophatananon, Artitaya

AU - Rattanamongkongul, Suthee

AU - Chaiwerawattana, Arkom

AU - Kang, Daehee

AU - Yoo, Keun-Young

AU - Noh, Dong-Young

AU - Shen, Chen-Yang

AU - Yu, Jyh-Cherng

AU - Wu, Pei-Ei

AU - Hsiung, Chia-Ni

AU - Perkins, Annie

AU - Swann, Ruth

AU - Velentzis, Louiza

AU - Eccles, Diana M

AU - Tapper, Will J

AU - Gerty, Susan M

AU - Graham, Nikki J

AU - Ponder, Bruce A J

AU - Chenevix-Trench, Georgia

AU - Pharoah, Paul D P

AU - Lathrop, Mark

AU - Dunning, Alison M

AU - Rahman, Nazneen

AU - Peto, Julian

AU - Easton, Douglas F

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - Humans

KW - Female

KW - Logistic Models

KW - Genome-Wide Association Study

KW - Breast Neoplasms/genetics

KW - European Continental Ancestry Group/genetics

KW - Polymorphism, Single Nucleotide/genetics

KW - Genetic Predisposition to Disease/genetics

KW - Principal Component Analysis

KW - Genetic Loci/genetics

KW - Chromosomes, Human, Pair 12/genetics

KW - Chromosomes, Human, Pair 21/genetics

KW - Humans

KW - Female

KW - Logistic Models

KW - Genome-Wide Association Study

KW - Breast Neoplasms/genetics

KW - European Continental Ancestry Group/genetics

KW - Polymorphism, Single Nucleotide/genetics

KW - Genetic Predisposition to Disease/genetics

KW - Principal Component Analysis

KW - Genetic Loci/genetics

KW - Chromosomes, Human, Pair 12/genetics

KW - Chromosomes, Human, Pair 21/genetics

M3 - SCORING: Journal article

VL - 44

SP - 312

EP - 318

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 3

M1 - 3

ER -