Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Shahana Ahmed, Gilles Thomas, Maya Ghoussaini, Catherine S. Healey, Manjeet K. Humphreys, Radka Platte, Jonathan Morrison, Melanie Maranian, Karen A. Pooley, Robert Luben, Diana Eccles, D. Gareth Evans, Olivia Fletcher, Nichola Johnson, Isabel Dos Santos Silva, Julian Peto, Michael R. Stratton, Nazneen Rahman, Kevin Jacobs, Ross Prentice & 115 others Garnet L. Anderson, Aleksandar Rajkovic, J. David Curb, Regina G. Ziegler, Christine D. Berg, Saundra S. Buys, Catherine A. McCarty, Heather Spencer Feigelson, Eugenia E. Calle, Michael J. Thun, W. Ryan Diver, Stig Bojesen, Børge G. Nordestgaard, Henrik Flyger, Thilo Dörk, Peter Schürmann, Peter Hillemanns, Johann H. Karstens, Natalia V. Bogdanova, Natalia N. Antonenkova, Iosif V. Zalutsky, Marina Bermisheva, Sardana Fedorova, Elza Khusnutdinova, Daehee Kang, Keun Young Yoo, Dong Young Noh, Sei Hyun Ahn, Peter Devilee, Christi J. Van Asperen, R. A E M Tollenaar, Caroline Seynaeve, Montserrat Garcia-Closas, Jolanta Lissowska, Louise Brinton, Beata Peplonska, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, John L. Hopper, Melissa C. Southey, Letitia Smith, Amanda B. Spurdle, Marjanka K. Schmidt, Annegien Broeks, Richard R. Van Hien, Sten Cornelissen, Roger L. Milne, Gloria Ribas, Anna González-Neira, Javier Benitez, Rita K. Schmutzler, Barbara Burwinkel, Claus R. Bartram, Alfons Meindl, Hiltrud Brauch, Christina Justenhoven, Ute Hamann, Jenny Chang-Claude, Rebecca Hein, Shan Wang-Gohrke, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli Matti Kosma, Vesa Kataja, Janet E Olson, Xianshu Wang, Zachary Fredericksen, Graham G. Giles, Gianluca Severi, Laura Baglietto, Dallas R. English, Susan E. Hankinson, David G. Cox, Peter Kraft, Lars J. Vatten, Kristian Hveem, Merethe Kumle, Alice Sigurdson, Michele Doody, Parveen Bhatti, Bruce H. Alexander, Maartje J. Hooning, Ans M W Van Den Ouweland, Rogier A. Oldenburg, Mieke Schutte, Per Hall, Kamila Czene, Jianjun Liu, Yuqing Li, Angela Cox, Graeme Elliott, Ian Brock, Malcolm W R Reed, Chen Yang Shen, Jyh Cherng Yu, Giu Cheng Hsu, Shou Tung Chen, Hoda Anton-Culver, Argyrios Ziogas, Irene L. Andrulis, Julia A. Knight, Jonathan Beesley, Ellen L Goode, Fergus J Couch, Georgia Chenevix-Trench, Robert N. Hoover, Bruce A J Ponder, David J. Hunter, Paul D P Pharoah, Alison M. Dunning, Stephen J. Chanock, Douglas F. Easton

Research output: Contribution to journalArticle

363 Citations (Scopus)

Abstract

Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 × 10-23) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 × 10 -8). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

Original languageEnglish (US)
Pages (from-to)585-590
Number of pages6
JournalNature Genetics
Volume41
Issue number5
DOIs
StatePublished - May 2009

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Genome-Wide Association Study
Breast Neoplasms
Alleles
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Ahmed, S., Thomas, G., Ghoussaini, M., Healey, C. S., Humphreys, M. K., Platte, R., ... Easton, D. F. (2009). Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nature Genetics, 41(5), 585-590. https://doi.org/10.1038/ng.354

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. / Ahmed, Shahana; Thomas, Gilles; Ghoussaini, Maya; Healey, Catherine S.; Humphreys, Manjeet K.; Platte, Radka; Morrison, Jonathan; Maranian, Melanie; Pooley, Karen A.; Luben, Robert; Eccles, Diana; Evans, D. Gareth; Fletcher, Olivia; Johnson, Nichola; Dos Santos Silva, Isabel; Peto, Julian; Stratton, Michael R.; Rahman, Nazneen; Jacobs, Kevin; Prentice, Ross; Anderson, Garnet L.; Rajkovic, Aleksandar; Curb, J. David; Ziegler, Regina G.; Berg, Christine D.; Buys, Saundra S.; McCarty, Catherine A.; Feigelson, Heather Spencer; Calle, Eugenia E.; Thun, Michael J.; Diver, W. Ryan; Bojesen, Stig; Nordestgaard, Børge G.; Flyger, Henrik; Dörk, Thilo; Schürmann, Peter; Hillemanns, Peter; Karstens, Johann H.; Bogdanova, Natalia V.; Antonenkova, Natalia N.; Zalutsky, Iosif V.; Bermisheva, Marina; Fedorova, Sardana; Khusnutdinova, Elza; Kang, Daehee; Yoo, Keun Young; Noh, Dong Young; Ahn, Sei Hyun; Devilee, Peter; Van Asperen, Christi J.; Tollenaar, R. A E M; Seynaeve, Caroline; Garcia-Closas, Montserrat; Lissowska, Jolanta; Brinton, Louise; Peplonska, Beata; Nevanlinna, Heli; Heikkinen, Tuomas; Aittomäki, Kristiina; Blomqvist, Carl; Hopper, John L.; Southey, Melissa C.; Smith, Letitia; Spurdle, Amanda B.; Schmidt, Marjanka K.; Broeks, Annegien; Van Hien, Richard R.; Cornelissen, Sten; Milne, Roger L.; Ribas, Gloria; González-Neira, Anna; Benitez, Javier; Schmutzler, Rita K.; Burwinkel, Barbara; Bartram, Claus R.; Meindl, Alfons; Brauch, Hiltrud; Justenhoven, Christina; Hamann, Ute; Chang-Claude, Jenny; Hein, Rebecca; Wang-Gohrke, Shan; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli Matti; Kataja, Vesa; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Giles, Graham G.; Severi, Gianluca; Baglietto, Laura; English, Dallas R.; Hankinson, Susan E.; Cox, David G.; Kraft, Peter; Vatten, Lars J.; Hveem, Kristian; Kumle, Merethe; Sigurdson, Alice; Doody, Michele; Bhatti, Parveen; Alexander, Bruce H.; Hooning, Maartje J.; Van Den Ouweland, Ans M W; Oldenburg, Rogier A.; Schutte, Mieke; Hall, Per; Czene, Kamila; Liu, Jianjun; Li, Yuqing; Cox, Angela; Elliott, Graeme; Brock, Ian; Reed, Malcolm W R; Shen, Chen Yang; Yu, Jyh Cherng; Hsu, Giu Cheng; Chen, Shou Tung; Anton-Culver, Hoda; Ziogas, Argyrios; Andrulis, Irene L.; Knight, Julia A.; Beesley, Jonathan; Goode, Ellen L; Couch, Fergus J; Chenevix-Trench, Georgia; Hoover, Robert N.; Ponder, Bruce A J; Hunter, David J.; Pharoah, Paul D P; Dunning, Alison M.; Chanock, Stephen J.; Easton, Douglas F.

In: Nature Genetics, Vol. 41, No. 5, 05.2009, p. 585-590.

Research output: Contribution to journalArticle

Ahmed, S, Thomas, G, Ghoussaini, M, Healey, CS, Humphreys, MK, Platte, R, Morrison, J, Maranian, M, Pooley, KA, Luben, R, Eccles, D, Evans, DG, Fletcher, O, Johnson, N, Dos Santos Silva, I, Peto, J, Stratton, MR, Rahman, N, Jacobs, K, Prentice, R, Anderson, GL, Rajkovic, A, Curb, JD, Ziegler, RG, Berg, CD, Buys, SS, McCarty, CA, Feigelson, HS, Calle, EE, Thun, MJ, Diver, WR, Bojesen, S, Nordestgaard, BG, Flyger, H, Dörk, T, Schürmann, P, Hillemanns, P, Karstens, JH, Bogdanova, NV, Antonenkova, NN, Zalutsky, IV, Bermisheva, M, Fedorova, S, Khusnutdinova, E, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Devilee, P, Van Asperen, CJ, Tollenaar, RAEM, Seynaeve, C, Garcia-Closas, M, Lissowska, J, Brinton, L, Peplonska, B, Nevanlinna, H, Heikkinen, T, Aittomäki, K, Blomqvist, C, Hopper, JL, Southey, MC, Smith, L, Spurdle, AB, Schmidt, MK, Broeks, A, Van Hien, RR, Cornelissen, S, Milne, RL, Ribas, G, González-Neira, A, Benitez, J, Schmutzler, RK, Burwinkel, B, Bartram, CR, Meindl, A, Brauch, H, Justenhoven, C, Hamann, U, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, VM, Kataja, V, Olson, JE, Wang, X, Fredericksen, Z, Giles, GG, Severi, G, Baglietto, L, English, DR, Hankinson, SE, Cox, DG, Kraft, P, Vatten, LJ, Hveem, K, Kumle, M, Sigurdson, A, Doody, M, Bhatti, P, Alexander, BH, Hooning, MJ, Van Den Ouweland, AMW, Oldenburg, RA, Schutte, M, Hall, P, Czene, K, Liu, J, Li, Y, Cox, A, Elliott, G, Brock, I, Reed, MWR, Shen, CY, Yu, JC, Hsu, GC, Chen, ST, Anton-Culver, H, Ziogas, A, Andrulis, IL, Knight, JA, Beesley, J, Goode, EL, Couch, FJ, Chenevix-Trench, G, Hoover, RN, Ponder, BAJ, Hunter, DJ, Pharoah, PDP, Dunning, AM, Chanock, SJ & Easton, DF 2009, 'Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2', Nature Genetics, vol. 41, no. 5, pp. 585-590. https://doi.org/10.1038/ng.354
Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nature Genetics. 2009 May;41(5):585-590. https://doi.org/10.1038/ng.354
Ahmed, Shahana ; Thomas, Gilles ; Ghoussaini, Maya ; Healey, Catherine S. ; Humphreys, Manjeet K. ; Platte, Radka ; Morrison, Jonathan ; Maranian, Melanie ; Pooley, Karen A. ; Luben, Robert ; Eccles, Diana ; Evans, D. Gareth ; Fletcher, Olivia ; Johnson, Nichola ; Dos Santos Silva, Isabel ; Peto, Julian ; Stratton, Michael R. ; Rahman, Nazneen ; Jacobs, Kevin ; Prentice, Ross ; Anderson, Garnet L. ; Rajkovic, Aleksandar ; Curb, J. David ; Ziegler, Regina G. ; Berg, Christine D. ; Buys, Saundra S. ; McCarty, Catherine A. ; Feigelson, Heather Spencer ; Calle, Eugenia E. ; Thun, Michael J. ; Diver, W. Ryan ; Bojesen, Stig ; Nordestgaard, Børge G. ; Flyger, Henrik ; Dörk, Thilo ; Schürmann, Peter ; Hillemanns, Peter ; Karstens, Johann H. ; Bogdanova, Natalia V. ; Antonenkova, Natalia N. ; Zalutsky, Iosif V. ; Bermisheva, Marina ; Fedorova, Sardana ; Khusnutdinova, Elza ; Kang, Daehee ; Yoo, Keun Young ; Noh, Dong Young ; Ahn, Sei Hyun ; Devilee, Peter ; Van Asperen, Christi J. ; Tollenaar, R. A E M ; Seynaeve, Caroline ; Garcia-Closas, Montserrat ; Lissowska, Jolanta ; Brinton, Louise ; Peplonska, Beata ; Nevanlinna, Heli ; Heikkinen, Tuomas ; Aittomäki, Kristiina ; Blomqvist, Carl ; Hopper, John L. ; Southey, Melissa C. ; Smith, Letitia ; Spurdle, Amanda B. ; Schmidt, Marjanka K. ; Broeks, Annegien ; Van Hien, Richard R. ; Cornelissen, Sten ; Milne, Roger L. ; Ribas, Gloria ; González-Neira, Anna ; Benitez, Javier ; Schmutzler, Rita K. ; Burwinkel, Barbara ; Bartram, Claus R. ; Meindl, Alfons ; Brauch, Hiltrud ; Justenhoven, Christina ; Hamann, Ute ; Chang-Claude, Jenny ; Hein, Rebecca ; Wang-Gohrke, Shan ; Lindblom, Annika ; Margolin, Sara ; Mannermaa, Arto ; Kosma, Veli Matti ; Kataja, Vesa ; Olson, Janet E ; Wang, Xianshu ; Fredericksen, Zachary ; Giles, Graham G. ; Severi, Gianluca ; Baglietto, Laura ; English, Dallas R. ; Hankinson, Susan E. ; Cox, David G. ; Kraft, Peter ; Vatten, Lars J. ; Hveem, Kristian ; Kumle, Merethe ; Sigurdson, Alice ; Doody, Michele ; Bhatti, Parveen ; Alexander, Bruce H. ; Hooning, Maartje J. ; Van Den Ouweland, Ans M W ; Oldenburg, Rogier A. ; Schutte, Mieke ; Hall, Per ; Czene, Kamila ; Liu, Jianjun ; Li, Yuqing ; Cox, Angela ; Elliott, Graeme ; Brock, Ian ; Reed, Malcolm W R ; Shen, Chen Yang ; Yu, Jyh Cherng ; Hsu, Giu Cheng ; Chen, Shou Tung ; Anton-Culver, Hoda ; Ziogas, Argyrios ; Andrulis, Irene L. ; Knight, Julia A. ; Beesley, Jonathan ; Goode, Ellen L ; Couch, Fergus J ; Chenevix-Trench, Georgia ; Hoover, Robert N. ; Ponder, Bruce A J ; Hunter, David J. ; Pharoah, Paul D P ; Dunning, Alison M. ; Chanock, Stephen J. ; Easton, Douglas F. / Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. In: Nature Genetics. 2009 ; Vol. 41, No. 5. pp. 585-590.
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title = "Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2",
abstract = "Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95{\%} CI = 1.08-1.13, P = 4.1 × 10-23) and 17q (rs6504950: per-allele OR = 0.95, 95{\%} CI = 0.92-0.97, P = 1.4 × 10 -8). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.",
author = "Shahana Ahmed and Gilles Thomas and Maya Ghoussaini and Healey, {Catherine S.} and Humphreys, {Manjeet K.} and Radka Platte and Jonathan Morrison and Melanie Maranian and Pooley, {Karen A.} and Robert Luben and Diana Eccles and Evans, {D. Gareth} and Olivia Fletcher and Nichola Johnson and {Dos Santos Silva}, Isabel and Julian Peto and Stratton, {Michael R.} and Nazneen Rahman and Kevin Jacobs and Ross Prentice and Anderson, {Garnet L.} and Aleksandar Rajkovic and Curb, {J. David} and Ziegler, {Regina G.} and Berg, {Christine D.} and Buys, {Saundra S.} and McCarty, {Catherine A.} and Feigelson, {Heather Spencer} and Calle, {Eugenia E.} and Thun, {Michael J.} and Diver, {W. Ryan} and Stig Bojesen and Nordestgaard, {B{\o}rge G.} and Henrik Flyger and Thilo D{\"o}rk and Peter Sch{\"u}rmann and Peter Hillemanns and Karstens, {Johann H.} and Bogdanova, {Natalia V.} and Antonenkova, {Natalia N.} and Zalutsky, {Iosif V.} and Marina Bermisheva and Sardana Fedorova and Elza Khusnutdinova and Daehee Kang and Yoo, {Keun Young} and Noh, {Dong Young} and Ahn, {Sei Hyun} and Peter Devilee and {Van Asperen}, {Christi J.} and Tollenaar, {R. A E M} and Caroline Seynaeve and Montserrat Garcia-Closas and Jolanta Lissowska and Louise Brinton and Beata Peplonska and Heli Nevanlinna and Tuomas Heikkinen and Kristiina Aittom{\"a}ki and Carl Blomqvist and Hopper, {John L.} and Southey, {Melissa C.} and Letitia Smith and Spurdle, {Amanda B.} and Schmidt, {Marjanka K.} and Annegien Broeks and {Van Hien}, {Richard R.} and Sten Cornelissen and Milne, {Roger L.} and Gloria Ribas and Anna Gonz{\'a}lez-Neira and Javier Benitez and Schmutzler, {Rita K.} and Barbara Burwinkel and Bartram, {Claus R.} and Alfons Meindl and Hiltrud Brauch and Christina Justenhoven and Ute Hamann and Jenny Chang-Claude and Rebecca Hein and Shan Wang-Gohrke and Annika Lindblom and Sara Margolin and Arto Mannermaa and Kosma, {Veli Matti} and Vesa Kataja and Olson, {Janet E} and Xianshu Wang and Zachary Fredericksen and Giles, {Graham G.} and Gianluca Severi and Laura Baglietto and English, {Dallas R.} and Hankinson, {Susan E.} and Cox, {David G.} and Peter Kraft and Vatten, {Lars J.} and Kristian Hveem and Merethe Kumle and Alice Sigurdson and Michele Doody and Parveen Bhatti and Alexander, {Bruce H.} and Hooning, {Maartje J.} and {Van Den Ouweland}, {Ans M W} and Oldenburg, {Rogier A.} and Mieke Schutte and Per Hall and Kamila Czene and Jianjun Liu and Yuqing Li and Angela Cox and Graeme Elliott and Ian Brock and Reed, {Malcolm W R} and Shen, {Chen Yang} and Yu, {Jyh Cherng} and Hsu, {Giu Cheng} and Chen, {Shou Tung} and Hoda Anton-Culver and Argyrios Ziogas and Andrulis, {Irene L.} and Knight, {Julia A.} and Jonathan Beesley and Goode, {Ellen L} and Couch, {Fergus J} and Georgia Chenevix-Trench and Hoover, {Robert N.} and Ponder, {Bruce A J} and Hunter, {David J.} and Pharoah, {Paul D P} and Dunning, {Alison M.} and Chanock, {Stephen J.} and Easton, {Douglas F.}",
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T1 - Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

AU - Ahmed, Shahana

AU - Thomas, Gilles

AU - Ghoussaini, Maya

AU - Healey, Catherine S.

AU - Humphreys, Manjeet K.

AU - Platte, Radka

AU - Morrison, Jonathan

AU - Maranian, Melanie

AU - Pooley, Karen A.

AU - Luben, Robert

AU - Eccles, Diana

AU - Evans, D. Gareth

AU - Fletcher, Olivia

AU - Johnson, Nichola

AU - Dos Santos Silva, Isabel

AU - Peto, Julian

AU - Stratton, Michael R.

AU - Rahman, Nazneen

AU - Jacobs, Kevin

AU - Prentice, Ross

AU - Anderson, Garnet L.

AU - Rajkovic, Aleksandar

AU - Curb, J. David

AU - Ziegler, Regina G.

AU - Berg, Christine D.

AU - Buys, Saundra S.

AU - McCarty, Catherine A.

AU - Feigelson, Heather Spencer

AU - Calle, Eugenia E.

AU - Thun, Michael J.

AU - Diver, W. Ryan

AU - Bojesen, Stig

AU - Nordestgaard, Børge G.

AU - Flyger, Henrik

AU - Dörk, Thilo

AU - Schürmann, Peter

AU - Hillemanns, Peter

AU - Karstens, Johann H.

AU - Bogdanova, Natalia V.

AU - Antonenkova, Natalia N.

AU - Zalutsky, Iosif V.

AU - Bermisheva, Marina

AU - Fedorova, Sardana

AU - Khusnutdinova, Elza

AU - Kang, Daehee

AU - Yoo, Keun Young

AU - Noh, Dong Young

AU - Ahn, Sei Hyun

AU - Devilee, Peter

AU - Van Asperen, Christi J.

AU - Tollenaar, R. A E M

AU - Seynaeve, Caroline

AU - Garcia-Closas, Montserrat

AU - Lissowska, Jolanta

AU - Brinton, Louise

AU - Peplonska, Beata

AU - Nevanlinna, Heli

AU - Heikkinen, Tuomas

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Hopper, John L.

AU - Southey, Melissa C.

AU - Smith, Letitia

AU - Spurdle, Amanda B.

AU - Schmidt, Marjanka K.

AU - Broeks, Annegien

AU - Van Hien, Richard R.

AU - Cornelissen, Sten

AU - Milne, Roger L.

AU - Ribas, Gloria

AU - González-Neira, Anna

AU - Benitez, Javier

AU - Schmutzler, Rita K.

AU - Burwinkel, Barbara

AU - Bartram, Claus R.

AU - Meindl, Alfons

AU - Brauch, Hiltrud

AU - Justenhoven, Christina

AU - Hamann, Ute

AU - Chang-Claude, Jenny

AU - Hein, Rebecca

AU - Wang-Gohrke, Shan

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Mannermaa, Arto

AU - Kosma, Veli Matti

AU - Kataja, Vesa

AU - Olson, Janet E

AU - Wang, Xianshu

AU - Fredericksen, Zachary

AU - Giles, Graham G.

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - English, Dallas R.

AU - Hankinson, Susan E.

AU - Cox, David G.

AU - Kraft, Peter

AU - Vatten, Lars J.

AU - Hveem, Kristian

AU - Kumle, Merethe

AU - Sigurdson, Alice

AU - Doody, Michele

AU - Bhatti, Parveen

AU - Alexander, Bruce H.

AU - Hooning, Maartje J.

AU - Van Den Ouweland, Ans M W

AU - Oldenburg, Rogier A.

AU - Schutte, Mieke

AU - Hall, Per

AU - Czene, Kamila

AU - Liu, Jianjun

AU - Li, Yuqing

AU - Cox, Angela

AU - Elliott, Graeme

AU - Brock, Ian

AU - Reed, Malcolm W R

AU - Shen, Chen Yang

AU - Yu, Jyh Cherng

AU - Hsu, Giu Cheng

AU - Chen, Shou Tung

AU - Anton-Culver, Hoda

AU - Ziogas, Argyrios

AU - Andrulis, Irene L.

AU - Knight, Julia A.

AU - Beesley, Jonathan

AU - Goode, Ellen L

AU - Couch, Fergus J

AU - Chenevix-Trench, Georgia

AU - Hoover, Robert N.

AU - Ponder, Bruce A J

AU - Hunter, David J.

AU - Pharoah, Paul D P

AU - Dunning, Alison M.

AU - Chanock, Stephen J.

AU - Easton, Douglas F.

PY - 2009/5

Y1 - 2009/5

N2 - Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 × 10-23) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 × 10 -8). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

AB - Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 × 10-23) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 × 10 -8). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

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