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

Warren, Helen, Dudbridge, Frank, Fletcher, Olivia, Orr, Nick, Johnson, Nichola, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Mahmoodi, Maryam, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Braaf, Linda M., Muir, Kenneth R., Lophatananon, Artitaya, Chaiwerawattana, Arkom, Wiangnon, Surapon, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Schulz-Wendtland, Ruediger, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Guenel, Pascal, Therese Truong, Laurent-Puig, Pierre, Mulot, Claire, Bojesen, Stig E., Nielsen, Sune F., Flyger, Henrik, Nordestgaard, Borge G., Milne, Roger L., Benitez, Javier, Arias-Perez, Jose-Ignacio, Pilar Zamora, M., Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Dur, Christina Clarke, Brenner, Hermann, Mueller, Heiko, Arndt, Volker, Langheinz, Anne, Meindl, Alfons, Golatta, Michael, Bartram, Claus R., Schmutzler, Rita K., Brauch, Hiltrud, Justenhoven, Christina, Bruening, Thomas, Chang-Claude, Jenny, Wang-Gohrke, Shan, Eilber, Ursula, Doerk, Thilo, Schuermann, Peter, Bremer, Michael, Hillemanns, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomaki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Yuriy, Bermisheva, Marina, Prokofyeva, Darya, Zinnatullina, Guzel, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Hartikainen, Jaana M., Kataja, Vesa, Chenevix-Trench, Georgia, Beesley, Jonathan, Chen, Xiaoqing, Lambrechts, Diether, Smeets, Ann, Paridaens, Robert, Weltens, Caroline, Flesch-Janys, Dieter, Buck, Katharina, Behrens, Sabine, Peterlongo, Paolo, Bernard, Loris, Manoukian, Siranoush, Radice, Paolo, Couch, Fergus J., Vachon, Celine, Wang, Xianshu, Olson, Janet, Giles, Graham, Baglietto, Laura, McLean, Cariona A., Severi, Gianluca, John, Esther M., Miron, Alexander, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene L., Knight, Julia A., Mulligan, Anna Marie, Weerasooriya, Nayana, Devilee, Peter, Tollenaar, Robert A. E. M., Martens, John W. M., Seynaeve, Caroline M., Hooning, Maartje J., Hollestelle, Antoinette, Jager, Agnes, Tilanus-Linthorst, Madeleine M. A., Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Jingmei, Cox, Angela, Cross, Simon S., Brock, Ian W., Reed, Malcolm W. R., Pharoah, Paul, Blows, Fiona M., Dunning, Alison M., Ghous-saini, Maya, Ashworth, Alan, Swerdlow, Anthony, Jones, Michael, Schoemaker, Minouk, Easton, Douglas F., Humphreys, Manjeet, Wang, Qin, Peto, Julian and dos-Santos-Silva, Isabel (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. doi:10.1158/1055-9965.EPI-12-0526

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Author Warren, Helen
Dudbridge, Frank
Fletcher, Olivia
Orr, Nick
Johnson, Nichola
Hopper, John L.
Apicella, Carmel
Southey, Melissa C.
Mahmoodi, Maryam
Schmidt, Marjanka K.
Broeks, Annegien
Cornelissen, Sten
Braaf, Linda M.
Muir, Kenneth R.
Lophatananon, Artitaya
Chaiwerawattana, Arkom
Wiangnon, Surapon
Fasching, Peter A.
Beckmann, Matthias W.
Ekici, Arif B.
Schulz-Wendtland, Ruediger
Sawyer, Elinor J.
Tomlinson, Ian
Kerin, Michael
Burwinkel, Barbara
Marme, Frederik
Schneeweiss, Andreas
Sohn, Christof
Guenel, Pascal
Therese Truong
Laurent-Puig, Pierre
Mulot, Claire
Bojesen, Stig E.
Nielsen, Sune F.
Flyger, Henrik
Nordestgaard, Borge G.
Milne, Roger L.
Benitez, Javier
Arias-Perez, Jose-Ignacio
Pilar Zamora, M.
Anton-Culver, Hoda
Ziogas, Argyrios
Bernstein, Leslie
Dur, Christina Clarke
Brenner, Hermann
Mueller, Heiko
Arndt, Volker
Langheinz, Anne
Meindl, Alfons
Golatta, Michael
Bartram, Claus R.
Schmutzler, Rita K.
Brauch, Hiltrud
Justenhoven, Christina
Bruening, Thomas
Chang-Claude, Jenny
Wang-Gohrke, Shan
Eilber, Ursula
Doerk, Thilo
Schuermann, Peter
Bremer, Michael
Hillemanns, Peter
Nevanlinna, Heli
Muranen, Taru A.
Aittomaki, Kristiina
Blomqvist, Carl
Bogdanova, Natalia
Antonenkova, Natalia
Rogov, Yuriy
Bermisheva, Marina
Prokofyeva, Darya
Zinnatullina, Guzel
Khusnutdinova, Elza
Lindblom, Annika
Margolin, Sara
Mannermaa, Arto
Kosma, Veli-Matti
Hartikainen, Jaana M.
Kataja, Vesa
Chenevix-Trench, Georgia
Beesley, Jonathan
Chen, Xiaoqing
Lambrechts, Diether
Smeets, Ann
Paridaens, Robert
Weltens, Caroline
Flesch-Janys, Dieter
Buck, Katharina
Behrens, Sabine
Peterlongo, Paolo
Bernard, Loris
Manoukian, Siranoush
Radice, Paolo
Couch, Fergus J.
Vachon, Celine
Wang, Xianshu
Olson, Janet
Giles, Graham
Baglietto, Laura
McLean, Cariona A.
Severi, Gianluca
John, Esther M.
Miron, Alexander
Winqvist, Robert
Pylkas, Katri
Jukkola-Vuorinen, Arja
Grip, Mervi
Andrulis, Irene L.
Knight, Julia A.
Mulligan, Anna Marie
Weerasooriya, Nayana
Devilee, Peter
Tollenaar, Robert A. E. M.
Martens, John W. M.
Seynaeve, Caroline M.
Hooning, Maartje J.
Hollestelle, Antoinette
Jager, Agnes
Tilanus-Linthorst, Madeleine M. A.
Hall, Per
Czene, Kamila
Liu, Jianjun
Li, Jingmei
Cox, Angela
Cross, Simon S.
Brock, Ian W.
Reed, Malcolm W. R.
Pharoah, Paul
Blows, Fiona M.
Dunning, Alison M.
Ghous-saini, Maya
Ashworth, Alan
Swerdlow, Anthony
Jones, Michael
Schoemaker, Minouk
Easton, Douglas F.
Humphreys, Manjeet
Wang, Qin
Peto, Julian
dos-Santos-Silva, Isabel
Title 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium
Journal name Cancer Epidemiology Biomarkers & Prevention   Check publisher's open access policy
ISSN 1055-9965
Publication date 2012-10-01
Sub-type Article (original research)
DOI 10.1158/1055-9965.EPI-12-0526
Volume 21
Issue 10
Start page 1783
End page 1791
Total pages 9
Place of publication Philadelphia, PA, U.S.A.
Publisher American Association for Cancer Research
Collection year 2013
Language eng
Formatted 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 × 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 (Phet) = 1.3 × 10−143], but no evidence of ethnic differences in per allele OR (Phet = 0.43). rs865686 was associated with estrogen receptor–positive (ER+) disease (per G-allele OR, 0.89; 95% CI, 0.86–0.91; P = 3.13 × 10−22) but less strongly, if at all, with ER-negative (ER−) disease (OR, 0.98; 95% CI, 0.94–1.02; P = 0.26; Phet = 1.16 × 10−6), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of the G allele with increasing age at diagnosis (P for linear trend = 0.0095), but only among women with ER+ tumors.

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–. ©2012 AACR.
Keyword Genome-Wide Association
Confer Susceptibility
Common Variants
Genetic Risk
Identifies 2
Population
Menarche
Alleles
Linkage
5P12
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
School of Medicine Publications
 
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Created: Wed, 28 Nov 2012, 07:55:41 EST by Matthew Lamb on behalf of School of Medicine