9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

H Warren; F Dudbridge; O Fletcher; N Orr; N Johnson; JL Hopper; C Apicella; MC Southey; M Mahmoodi; Marjanka K Schmidt; A Broeks; S Cornelissen; LM Braaf; KR Muir; A Lophatananon; A Chaiwerawattana; S Wiangnon; PA Fasching; MW Beckmann; AB Ekici; R Schulz-Wendtland; EJ Sawyer; I Tomlinson; M Kerin; B Burwinkel; F Marme; A Schneeweiss; C Sohn; P Guenel; P Laurent-Puig; C Mulot; SE Bojesen; SF Nielsen; H Flyger; BG Nordestgaard; RL Milne; J Benitez; JI Arias-Perez; MP Zamora; H Anton-Culver; A Ziogas; L Bernstein; CC Dur; H Brenner; H Muller; V Arndt; A Langheinz; A Meindl; M Golatta; CR Bartram; RK Schmutzler; H Brauch; C Justenhoven; T Bruning; J Chang-Claude; S Wang-Gohrke; U Eilber; T Dork; P Schurmann; M Bremer; P Hillemanns; H Nevanlinna; TA Muranen; K Aittomaki; C Blomqvist; N Bogdanova; N Antonenkova; Y Rogov; M Bermisheva; D Prokofyeva; G Zinnatullina; E Khusnutdinova; A Lindblom; S Margolin; A Mannermaa; VM Kosma; JM Hartikainen; V Kataja; G Chenevix-Trench; J Beesley; XQ Chen; D Lambrechts; A Smeets; R Paridaens; C Weltens; D Flesch-Janys; K Buck; S Behrens; P Peterlongo; L Bernard; S Manoukian; P Radice; FJ Couch; C Vachon; XS Wang; J Olson; G Giles; L Baglietto; CA McLean; G Severi; EM John; A Miron; R Winqvist; K Pylkas; A Jukkola-Vuorinen; M Grip; IL Andrulis; JA Knight; AM Mulligan; N Weerasooriya; P Devilee; RAEM Tollenaar; John Martens; Caroline Seynaeve; Maartje Hooning; Antoinette Hollestelle; Agnes Jager; Madeleine Tilanus - Linthorst; P Hall; K Czene; JJ Liu; JM Li; A Cox; SS Cross; IW Brock; MWR Reed; P Pharoah; FM Blows; AM Dunning; M Ghous-saini; A Ashworth; A Swerdlow; M Jones; M Schoemaker; DF Easton; M Humphreys; Q (Qing) Wang; J Peto; I dos-Santos-Silva; T Truong

doi:10.1158/1055-9965.EPI-12-0526

9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

H Warren
, F Dudbridge
, O Fletcher
, N Orr
, N Johnson
, JL Hopper
, C Apicella
, MC Southey
, M Mahmoodi
, Marjanka K Schmidt
, A Broeks
, S Cornelissen
, LM Braaf
, KR Muir
, A Lophatananon
, A Chaiwerawattana
, S Wiangnon
, PA Fasching
, MW Beckmann
, AB Ekici

R Schulz-Wendtland, EJ Sawyer, I Tomlinson, M Kerin, B Burwinkel, F Marme, A Schneeweiss, C Sohn, P Guenel, P Laurent-Puig, C Mulot, SE Bojesen, SF Nielsen, H Flyger, BG Nordestgaard, RL Milne, J Benitez, JI Arias-Perez, MP Zamora, H Anton-Culver, A Ziogas, L Bernstein, CC Dur, H Brenner, H Muller, V Arndt, A Langheinz, A Meindl, M Golatta, CR Bartram, RK Schmutzler, H Brauch, C Justenhoven, T Bruning, J Chang-Claude, S Wang-Gohrke, U Eilber, T Dork, P Schurmann, M Bremer, P Hillemanns, H Nevanlinna, TA Muranen, K Aittomaki, C Blomqvist, N Bogdanova, N Antonenkova, Y Rogov, M Bermisheva, D Prokofyeva, G Zinnatullina, E Khusnutdinova, A Lindblom, S Margolin, A Mannermaa, VM Kosma, JM Hartikainen, V Kataja, G Chenevix-Trench, J Beesley, XQ Chen, D Lambrechts, A Smeets, R Paridaens, C Weltens, D Flesch-Janys, K Buck, S Behrens, P Peterlongo, L Bernard, S Manoukian, P Radice, FJ Couch, C Vachon, XS Wang, J Olson, G Giles, L Baglietto, CA McLean, G Severi, EM John, A Miron, R Winqvist, K Pylkas, A Jukkola-Vuorinen, M Grip, IL Andrulis, JA Knight, AM Mulligan, N Weerasooriya, P Devilee, RAEM Tollenaar, John Martens, Caroline Seynaeve, Maartje Hooning, Antoinette Hollestelle, Agnes Jager, Madeleine Tilanus - Linthorst, P Hall, K Czene, JJ Liu, JM Li, A Cox, SS Cross, IW Brock, MWR Reed, P Pharoah, FM Blows, AM Dunning, M Ghous-saini, A Ashworth, A Swerdlow, M Jones, M Schoemaker, DF Easton, M Humphreys, Q (Qing) Wang, J Peto, I dos-Santos-Silva, T Truong

External organisation

Research output: Contribution to journal › Article › Academic › peer-review

16 Citations (Scopus)

Abstract

Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). Methods: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 x 10(-29)] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (P-het) -1.3 x 10(-143)], but n Conclusions: This study is the first to show that rs865686 is a susceptibility marker for ER+ breast cancer. Impact: The findings further support the view that genetic susceptibility varies according to tumor subtype. Cancer Epidemiol Biomarkers Prev; 21(10); 1783-91. (c) 2012 AACR.

Original language	Undefined/Unknown
Pages (from-to)	1783-1791
Number of pages	9
Journal	Cancer Epidemiology Biomarkers & Prevention
Volume	21
Issue number	10
DOIs	https://doi.org/10.1158/1055-9965.EPI-12-0526
Publication status	Published - 2012

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research programs

EMC COEUR-09
EMC MM-03-47-11
EMC MM-03-86-01

Access to Document

10.1158/1055-9965.EPI-12-0526

http://hdl.handle.net/1765/72949

Cite this

Warren, H., Dudbridge, F., Fletcher, O., Orr, N., Johnson, N., Hopper, JL., Apicella, C., Southey, MC., Mahmoodi, M., Schmidt, M. K., Broeks, A., Cornelissen, S., Braaf, LM., Muir, KR., Lophatananon, A., Chaiwerawattana, A., Wiangnon, S., Fasching, PA., Beckmann, MW., ... Truong, T. (2012). 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium. Cancer Epidemiology Biomarkers & Prevention, 21(10), 1783-1791. https://doi.org/10.1158/1055-9965.EPI-12-0526

@article{f2caa81473e741f0aa9bc538d30d4dd5,

title = "9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium",

abstract = "Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). Methods: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95\% confidence interval (CI), 0.88; 0.91, P = 2.01 x 10(-29)] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (P-het) -1.3 x 10(-143)], but n Conclusions: This study is the first to show that rs865686 is a susceptibility marker for ER+ breast cancer. Impact: The findings further support the view that genetic susceptibility varies according to tumor subtype. Cancer Epidemiol Biomarkers Prev; 21(10); 1783-91. (c) 2012 AACR.",

author = "H Warren and F Dudbridge and O Fletcher and N Orr and N Johnson and JL Hopper and C Apicella and MC Southey and M Mahmoodi and Schmidt, \{Marjanka K\} and A Broeks and S Cornelissen and LM Braaf and KR Muir and A Lophatananon and A Chaiwerawattana and S Wiangnon and PA Fasching and MW Beckmann and AB Ekici and R Schulz-Wendtland and EJ Sawyer and I Tomlinson and M Kerin and B Burwinkel and F Marme and A Schneeweiss and C Sohn and P Guenel and P Laurent-Puig and C Mulot and SE Bojesen and SF Nielsen and H Flyger and BG Nordestgaard and RL Milne and J Benitez and JI Arias-Perez and MP Zamora and H Anton-Culver and A Ziogas and L Bernstein and CC Dur and H Brenner and H Muller and V Arndt and A Langheinz and A Meindl and M Golatta and CR Bartram and RK Schmutzler and H Brauch and C Justenhoven and T Bruning and J Chang-Claude and S Wang-Gohrke and U Eilber and T Dork and P Schurmann and M Bremer and P Hillemanns and H Nevanlinna and TA Muranen and K Aittomaki and C Blomqvist and N Bogdanova and N Antonenkova and Y Rogov and M Bermisheva and D Prokofyeva and G Zinnatullina and E Khusnutdinova and A Lindblom and S Margolin and A Mannermaa and VM Kosma and JM Hartikainen and V Kataja and G Chenevix-Trench and J Beesley and XQ Chen and D Lambrechts and A Smeets and R Paridaens and C Weltens and D Flesch-Janys and K Buck and S Behrens and P Peterlongo and L Bernard and S Manoukian and P Radice and FJ Couch and C Vachon and XS Wang and J Olson and G Giles and L Baglietto and CA McLean and G Severi and EM John and A Miron and R Winqvist and K Pylkas and A Jukkola-Vuorinen and M Grip and IL Andrulis and JA Knight and AM Mulligan and N Weerasooriya and P Devilee and RAEM Tollenaar and John Martens and Caroline Seynaeve and Maartje Hooning and Antoinette Hollestelle and Agnes Jager and \{Tilanus - Linthorst\}, Madeleine and P Hall and K Czene and JJ Liu and JM Li and A Cox and SS Cross and IW Brock and MWR Reed and P Pharoah and FM Blows and AM Dunning and M Ghous-saini and A Ashworth and A Swerdlow and M Jones and M Schoemaker and DF Easton and M Humphreys and Wang, \{Q (Qing)\} and J Peto and I dos-Santos-Silva and T Truong",

year = "2012",

doi = "10.1158/1055-9965.EPI-12-0526",

language = "Undefined/Unknown",

volume = "21",

pages = "1783--1791",

journal = "Cancer Epidemiology Biomarkers \& Prevention",

issn = "1055-9965",

publisher = "American Association for Cancer Research Inc.",

number = "10",

}

Warren, H, Dudbridge, F, Fletcher, O, Orr, N, Johnson, N, Hopper, JL, Apicella, C, Southey, MC, Mahmoodi, M, Schmidt, MK, Broeks, A, Cornelissen, S, Braaf, LM, Muir, KR, Lophatananon, A, Chaiwerawattana, A, Wiangnon, S, Fasching, PA, Beckmann, MW, Ekici, AB, Schulz-Wendtland, R, Sawyer, EJ, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Guenel, P, Laurent-Puig, P, Mulot, C, Bojesen, SE, Nielsen, SF, Flyger, H, Nordestgaard, BG, Milne, RL, Benitez, J, Arias-Perez, JI, Zamora, MP, Anton-Culver, H, Ziogas, A, Bernstein, L, Dur, CC, Brenner, H, Muller, H, Arndt, V, Langheinz, A, Meindl, A, Golatta, M, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Bruning, T, Chang-Claude, J, Wang-Gohrke, S, Eilber, U, Dork, T, Schurmann, P, Bremer, M, Hillemanns, P, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Rogov, Y, Bermisheva, M, Prokofyeva, D, Zinnatullina, G, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, VM, Hartikainen, JM, Kataja, V, Chenevix-Trench, G, Beesley, J, Chen, XQ, Lambrechts, D, Smeets, A, Paridaens, R, Weltens, C, Flesch-Janys, D, Buck, K, Behrens, S, Peterlongo, P, Bernard, L, Manoukian, S, Radice, P, Couch, FJ, Vachon, C, Wang, XS, Olson, J, Giles, G, Baglietto, L, McLean, CA, Severi, G, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Mulligan, AM, Weerasooriya, N, Devilee, P, Tollenaar, RAEM, Martens, J, Seynaeve, C, Hooning, M, Hollestelle, A, Jager, A , Tilanus - Linthorst, M, Hall, P, Czene, K, Liu, JJ, Li, JM, Cox, A, Cross, SS, Brock, IW, Reed, MWR, Pharoah, P, Blows, FM, Dunning, AM, Ghous-saini, M, Ashworth, A, Swerdlow, A, Jones, M, Schoemaker, M, Easton, DF, Humphreys, M, Wang, Q, Peto, J, dos-Santos-Silva, I & Truong, T 2012, '9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium', Cancer Epidemiology Biomarkers & Prevention, vol. 21, no. 10, pp. 1783-1791. https://doi.org/10.1158/1055-9965.EPI-12-0526

TY - JOUR

T1 - 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

AU - Warren, H

AU - Dudbridge, F

AU - Fletcher, O

AU - Orr, N

AU - Johnson, N

AU - Hopper, JL

AU - Apicella, C

AU - Southey, MC

AU - Mahmoodi, M

AU - Schmidt, Marjanka K

AU - Broeks, A

AU - Cornelissen, S

AU - Braaf, LM

AU - Muir, KR

AU - Lophatananon, A

AU - Chaiwerawattana, A

AU - Wiangnon, S

AU - Fasching, PA

AU - Beckmann, MW

AU - Ekici, AB

AU - Schulz-Wendtland, R

AU - Sawyer, EJ

AU - Tomlinson, I

AU - Kerin, M

AU - Burwinkel, B

AU - Marme, F

AU - Schneeweiss, A

AU - Sohn, C

AU - Guenel, P

AU - Laurent-Puig, P

AU - Mulot, C

AU - Bojesen, SE

AU - Nielsen, SF

AU - Flyger, H

AU - Nordestgaard, BG

AU - Milne, RL

AU - Benitez, J

AU - Arias-Perez, JI

AU - Zamora, MP

AU - Anton-Culver, H

AU - Ziogas, A

AU - Bernstein, L

AU - Dur, CC

AU - Brenner, H

AU - Muller, H

AU - Arndt, V

AU - Langheinz, A

AU - Meindl, A

AU - Golatta, M

AU - Bartram, CR

AU - Schmutzler, RK

AU - Brauch, H

AU - Justenhoven, C

AU - Bruning, T

AU - Chang-Claude, J

AU - Wang-Gohrke, S

AU - Eilber, U

AU - Dork, T

AU - Schurmann, P

AU - Bremer, M

AU - Hillemanns, P

AU - Nevanlinna, H

AU - Muranen, TA

AU - Aittomaki, K

AU - Blomqvist, C

AU - Bogdanova, N

AU - Antonenkova, N

AU - Rogov, Y

AU - Bermisheva, M

AU - Prokofyeva, D

AU - Zinnatullina, G

AU - Khusnutdinova, E

AU - Lindblom, A

AU - Margolin, S

AU - Mannermaa, A

AU - Kosma, VM

AU - Hartikainen, JM

AU - Kataja, V

AU - Chenevix-Trench, G

AU - Beesley, J

AU - Chen, XQ

AU - Lambrechts, D

AU - Smeets, A

AU - Paridaens, R

AU - Weltens, C

AU - Flesch-Janys, D

AU - Buck, K

AU - Behrens, S

AU - Peterlongo, P

AU - Bernard, L

AU - Manoukian, S

AU - Radice, P

AU - Couch, FJ

AU - Vachon, C

AU - Wang, XS

AU - Olson, J

AU - Giles, G

AU - Baglietto, L

AU - McLean, CA

AU - Severi, G

AU - John, EM

AU - Miron, A

AU - Winqvist, R

AU - Pylkas, K

AU - Jukkola-Vuorinen, A

AU - Grip, M

AU - Andrulis, IL

AU - Knight, JA

AU - Mulligan, AM

AU - Weerasooriya, N

AU - Devilee, P

AU - Tollenaar, RAEM

AU - Martens, John

AU - Seynaeve, Caroline

AU - Hooning, Maartje

AU - Hollestelle, Antoinette

AU - Jager, Agnes

AU - Tilanus - Linthorst, Madeleine

AU - Hall, P

AU - Czene, K

AU - Liu, JJ

AU - Li, JM

AU - Cox, A

AU - Cross, SS

AU - Brock, IW

AU - Reed, MWR

AU - Pharoah, P

AU - Blows, FM

AU - Dunning, AM

AU - Ghous-saini, M

AU - Ashworth, A

AU - Swerdlow, A

AU - Jones, M

AU - Schoemaker, M

AU - Easton, DF

AU - Humphreys, M

AU - Wang, Q (Qing)

AU - Peto, J

AU - dos-Santos-Silva, I

AU - Truong, T

PY - 2012

Y1 - 2012

N2 - Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). Methods: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 x 10(-29)] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (P-het) -1.3 x 10(-143)], but n Conclusions: This study is the first to show that rs865686 is a susceptibility marker for ER+ breast cancer. Impact: The findings further support the view that genetic susceptibility varies according to tumor subtype. Cancer Epidemiol Biomarkers Prev; 21(10); 1783-91. (c) 2012 AACR.

AB - Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). Methods: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 x 10(-29)] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (P-het) -1.3 x 10(-143)], but n Conclusions: This study is the first to show that rs865686 is a susceptibility marker for ER+ breast cancer. Impact: The findings further support the view that genetic susceptibility varies according to tumor subtype. Cancer Epidemiol Biomarkers Prev; 21(10); 1783-91. (c) 2012 AACR.

U2 - 10.1158/1055-9965.EPI-12-0526

DO - 10.1158/1055-9965.EPI-12-0526

M3 - Article

C2 - 22859399

SN - 1055-9965

VL - 21

SP - 1783

EP - 1791

JO - Cancer Epidemiology Biomarkers & Prevention

JF - Cancer Epidemiology Biomarkers & Prevention

IS - 10

ER -