Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Antoniou, Antonis C., Kartsonaki, Christiana, Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Putignano, Anna Laura, Varesco, Liliana, Radice, Paolo, Mai, Phuong L., Greene, Mark H., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Jensen, Uffe Birk, Cruger, Dorthe G., Caligo, Maria A., Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Ehrencrona, Hans, Melin, Beatrice, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Osorio, Ana, Ramon y Cajal, Teresa, Fostira, Florentia, Andres, Raquel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B., Rookus, Matti A., Hooning, Maartje J., Nelen, Marcel R., van der Luijt, Rob B., van Os, Theo A. M., van Asperen, Christi J., Devilee, Peter, Meijers-Heijboer, Hanne E. J., Garcia, Encarna B. Gomez, Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Leyland, Jean, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-ren, Cook, Jackie, Douglas, Fiona, Paterson, Joan, Kennedy, M. John, Miedzybrodzka, Zosia, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie, Barjhoux, Laure, Lasset, Christine, Leroux, Dominique, Faivre, Laurence, Bronner, Myriam, Prieur, Fabienne, Nogues, Catherine, Rouleau, Etienne, Pujol, Pascal, Coupier, Isabelle, Frenay, Marc, Hopper, John L., Daly, Mary B., Terry, Mary B., John, Esther M., Buys, Saundra S., Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F., Tea, Muy-Kheng, Pfeiler, Georg, Dressler, Anne Catharina, Hansen, Thomas V. O., Jonson, Lars, Ejlertsen, Bent, Barkardottir, Rosa Bjork, Kirchhoff, Tomas, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo, Small, Laurie, Boggess, John, Blank, Stephanie, Basil, Jack, Azodi, Masoud, Toland, Amanda Ewart, Montagna, Marco, Tognazzo, Silvia, Agata, Simona, Imyanitov, Evgeny, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Pharoah, Paul D. P., Sucheston, Lara, Karlan, Beth Y., Walsh, Christine S., Olah, Edith, Bozsik, Aniko, Teo, Soo-Hwang, Seldon, Joyce L., Beattie, Mary S., van Rensburg, Elizabeth J., Sluiter, Michelle D., Diez, Orland, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Varon-Mateeva, Raymonda, Kast, Karin, Deissler, Helmut, Niederacher, Dieter, Arnold, Norbert, Gadzicki, Dorothea, Schonbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomaki, Kristiina, Dumont, Martine, Chiquette, Jocelyne, Tischkowitz, Marc, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan Chun, Fredericksen, Zachary, Wang, Xianshu, Pankratz, Vernon S., Couch, Fergus, Simard, Jacques, Easton, Douglas F. and Chenevix-Trench, Georgia (2011) Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 20 16: 3304-3321. doi:10.1093/hmg/ddr226

Attached Files (Some files may be inaccessible until you login with your UQ eSpace credentials)
Name Description MIMEType Size Downloads
Chenevix_Trench_authorafill_staffdata.pdf Chenevix_Trench_authorafill_staffdata.pdf application/pdf 435.03KB 0
Spurdle_Amanda_authaffil_staffdata.pdf Spurdle_Amanda_authaffil_staffdata.pdf application/pdf 294.54KB 0

Author Antoniou, Antonis C.
Kartsonaki, Christiana
Sinilnikova, Olga M.
Soucy, Penny
McGuffog, Lesley
Healey, Sue
Lee, Andrew
Peterlongo, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Cattaneo, Elisa
Barile, Monica
Pensotti, Valeria
Pasini, Barbara
Dolcetti, Riccardo
Giannini, Giuseppe
Putignano, Anna Laura
Varesco, Liliana
Radice, Paolo
Mai, Phuong L.
Greene, Mark H.
Andrulis, Irene L.
Glendon, Gord
Ozcelik, Hilmi
Thomassen, Mads
Gerdes, Anne-Marie
Kruse, Torben A.
Jensen, Uffe Birk
Cruger, Dorthe G.
Caligo, Maria A.
Laitman, Yael
Milgrom, Roni
Kaufman, Bella
Paluch-Shimon, Shani
Friedman, Eitan
Loman, Niklas
Harbst, Katja
Lindblom, Annika
Arver, Brita
Ehrencrona, Hans
Melin, Beatrice
Nathanson, Katherine L.
Domchek, Susan M.
Rebbeck, Timothy
Jakubowska, Ania
Lubinski, Jan
Gronwald, Jacek
Huzarski, Tomasz
Byrski, Tomasz
Cybulski, Cezary
Gorski, Bohdan
Osorio, Ana
Ramon y Cajal, Teresa
Fostira, Florentia
Andres, Raquel
Benitez, Javier
Hamann, Ute
Hogervorst, Frans B.
Rookus, Matti A.
Hooning, Maartje J.
Nelen, Marcel R.
van der Luijt, Rob B.
van Os, Theo A. M.
van Asperen, Christi J.
Devilee, Peter
Meijers-Heijboer, Hanne E. J.
Garcia, Encarna B. Gomez
Peock, Susan
Cook, Margaret
Frost, Debra
Platte, Radka
Leyland, Jean
Evans, D. Gareth
Lalloo, Fiona
Eeles, Ros
Izatt, Louise
Adlard, Julian
Davidson, Rosemarie
Eccles, Diana
Ong, Kai-ren
Cook, Jackie
Douglas, Fiona
Paterson, Joan
Kennedy, M. John
Miedzybrodzka, Zosia
Godwin, Andrew
Stoppa-Lyonnet, Dominique
Buecher, Bruno
Belotti, Muriel
Tirapo, Carole
Mazoyer, Sylvie
Barjhoux, Laure
Lasset, Christine
Leroux, Dominique
Faivre, Laurence
Bronner, Myriam
Prieur, Fabienne
Nogues, Catherine
Rouleau, Etienne
Pujol, Pascal
Coupier, Isabelle
Frenay, Marc
Hopper, John L.
Daly, Mary B.
Terry, Mary B.
John, Esther M.
Buys, Saundra S.
Yassin, Yosuf
Miron, Alexander
Goldgar, David
Singer, Christian F.
Tea, Muy-Kheng
Pfeiler, Georg
Dressler, Anne Catharina
Hansen, Thomas V. O.
Jonson, Lars
Ejlertsen, Bent
Barkardottir, Rosa Bjork
Kirchhoff, Tomas
Offit, Kenneth
Piedmonte, Marion
Rodriguez, Gustavo
Small, Laurie
Boggess, John
Blank, Stephanie
Basil, Jack
Azodi, Masoud
Toland, Amanda Ewart
Montagna, Marco
Tognazzo, Silvia
Agata, Simona
Imyanitov, Evgeny
Janavicius, Ramunas
Lazaro, Conxi
Blanco, Ignacio
Pharoah, Paul D. P.
Sucheston, Lara
Karlan, Beth Y.
Walsh, Christine S.
Olah, Edith
Bozsik, Aniko
Teo, Soo-Hwang
Seldon, Joyce L.
Beattie, Mary S.
van Rensburg, Elizabeth J.
Sluiter, Michelle D.
Diez, Orland
Schmutzler, Rita K.
Wappenschmidt, Barbara
Engel, Christoph
Meindl, Alfons
Ruehl, Ina
Varon-Mateeva, Raymonda
Kast, Karin
Deissler, Helmut
Niederacher, Dieter
Arnold, Norbert
Gadzicki, Dorothea
Schonbuchner, Ines
Caldes, Trinidad
de la Hoya, Miguel
Nevanlinna, Heli
Aittomaki, Kristiina
Dumont, Martine
Chiquette, Jocelyne
Tischkowitz, Marc
Chen, Xiaoqing
Beesley, Jonathan
Spurdle, Amanda B.
Neuhausen, Susan L.
Ding, Yuan Chun
Fredericksen, Zachary
Wang, Xianshu
Pankratz, Vernon S.
Couch, Fergus
Simard, Jacques
Easton, Douglas F.
Chenevix-Trench, Georgia
Title Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Formatted title
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 0964-6906
1460-2083
Publication date 2011-08
Sub-type Article (original research)
DOI 10.1093/hmg/ddr226
Volume 20
Issue 16
Start page 3304
End page 3321
Total pages 18
Place of publication Oxford, U.K.
Publisher Oxford University Press
Collection year 2012
Language eng
Formatted abstract
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r2 = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11–1.23, P-trend = 4.5 × 10−9 for rs2046210; HR = 1.28, 95% CI: 1.18–1.40, P-trend = 1.3 × 10−8 for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01–1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02–1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92–1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 39 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 42 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Wed, 21 Dec 2011, 09:23:35 EST by Matthew Lamb on behalf of School of Medicine