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

Antonis C. Antoniou, Christiana Kartsonaki, Olga M. Sinilnikova, Penny Soucy, Lesley McGuffog, Sue Healey, Andrew Lee, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Elisa Cattaneo, Monica Barile, Valeria Pensotti, Barbara Pasini, Riccardo Dolcetti, Giuseppe Giannini, Anna Laura Putignano, Liliana Varesco, Paolo Radice & 313 others Phuong L. Mai, Mark H. Greene, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, Mads Thomassen, Anne Marie Gerdes, Torben A. Kruse, Uffe Birk Jensen, Dorthe G. Crüger, Maria A. Caligo, Yael Laitman, Roni Milgrom, Bella Kaufman, Shani Paluch-Shimon, Eitan Friedman, Niklas Loman, Katja Harbst, Annika Lindblom, Brita Arver, Hans Ehrencrona, Beatrice Melin, Katherine L. Nathanson, Susan M. Domchek, Timothy Rebbeck, Ania Jakubowska, Jan Lubinski, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Cezary Cybulski, Bohdan Gorski, Ana Osorio, Teresa Ramón Cajal, Florentia Fostira, Raquel Andrés, Javier Benitez, Ute Hamann, Frans B. Hogervorst, Matti A. Rookus, Maartje J. Hooning, Marcel R. Nelen, Rob B. van der Luijt, Theo A M van Os, Christi J. van Asperen, Peter Devilee, Hanne E J Meijers-Heijboer, Encarna B Gómez Garcia, Susan Peock, Margaret Cook, D. Frost, Radka Platte, Jean Leyland, D. Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Julian Adlard, Rosemarie Davidson, Diana Eccles, Kai Ren Ong, Jackie Cook, Fiona Douglas, Joan Paterson, M. John Kennedy, Zosia Miedzybrodzka, Andrew Godwin, Dominique Stoppa-Lyonnet, Bruno Buecher, Muriel Belotti, Carole Tirapo, Sylvie Mazoyer, Laure Barjhoux, Christine Lasset, Dominique Leroux, Laurence Faivre, Myriam Bronner, Fabienne Prieur, Catherine Nogues, Etienne Rouleau, Pascal Pujol, Isabelle Coupier, Marc Frénay, John L. Hopper, Mary B. Daly, Mary B. Terry, Esther M. John, Saundra S. Buys, Yosuf Yassin, Alexander Miron, David Goldgar, Christian F. Singer, Muy Kheng Tea, Georg Pfeiler, Anne Catharina Dressler, Thomas v O Hansen, Lars Jønson, Bent Ejlertsen, Rosa Bjork Barkardottir, Tomas Kirchhoff, Kenneth Offit, Marion Piedmonte, Gustavo Rodriguez, Laurie Small, John Boggess, Stephanie Blank, Jack Basil, Masoud Azodi, Amanda Ewart Toland, Marco Montagna, Silvia Tognazzo, Simona Agata, Evgeny Imyanitov, Ramunas Janavicius, Conxi Lazaro, Ignacio Blanco, Paul D P Pharoah, Lara Sucheston, Beth Y. Karlan, Christine S. Walsh, Edith Olah, Aniko Bozsik, Soo Hwang Teo, Joyce L. Seldon, Mary S. Beattie, Elizabeth J. van Rensburg, Michelle D. Sluiter, Orland Diez, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Ina Ruehl, Raymonda Varon-Mateeva, Karin Kast, Helmut Deissler, Dieter Niederacher, Norbert Arnold, Dorothea Gadzicki, Ines Schönbuchner, Trinidad Caldes, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Martine Dumont, Jocelyne Chiquette, Marc Tischkowitz, Xiaoqing Chen, Jonathan Beesley, Amanda B. Spurdle, Susan L. Neuhausen, Yuan Chun Ding, Zachary Fredericksen, Xianshu Wang, Vernon S. Pankratz, Fergus Couch, Jacques Simard, Douglas F. Easton, Georgia Chenevix-Trench, Per Karlsson, Margareta Nordling, Annika Bergman, Zakaria Einbeigi, Marie Stenmark-Askmalm, Sigrun Liedgren, Ake Borg, Niklas Loman, Håkan Olsson, Ulf Kristoffersson, Helena Jernström, Katja Harbst, Karin Henriksson, Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, Gisela Barbany-Bustinza, Johanna Rantala, Beatrice Melin, Henrik Grönberg, Eva Lena Stattin, Monica Emanuelsson, Hans Ehrencrona, Richard Rosenquist Brandell, Niklas Dahl, F. B L Hogervorst, S. Verhoef, M. Verheus, L. J van t Veer, F. E. van Leeuwen, M. A. Rookus, M. Collée, A. M W van den Ouweland, A. Jager, M. J. Hooning, M. M A Tilanus-Linthorst, C. Seynaeve, C. J. van Asperen, J. T. Wijnen, M. P. Vreeswijk, R. A. Tollenaar, P. Devilee, M. J. Ligtenberg, N. Hoogerbrugge, M. G. Ausems, R. B. van der Luijt, C. M. Aalfs, T. A. van Os, J. J P Gille, Q. Waisfisz, H. E J Meijers-Heijboer, E. B. Gomez-Garcia, C. E. van Roozendaal, Marinus J. Blok, B. Caanen, J. C. Oosterwijk, A. H. van der Hout, M. J. Mourits, H. F. Vasen, Susan Peock, Margaret Cook, Debra Frost, Radka Platte, Jean Leyland, Zosia Miedzybrodzka, Helen Gregory, Patrick Morrison, Lisa Jeffers, Trevor Cole, Carole McKeown, Kai ren Ong, Jonathan Hoffman, Alan Donaldson, Joan Paterson, Sarah Downing, Amy Taylor, Alexandra Murray, Mark T. Rogers, Emma McCann, M. John Kennedy, David Barton, Mary Porteous, Sarah Drummond, Carole Brewer, Emma Kivuva, Anne Searle, Selina Goodman, Kathryn Hill, Rosemarie Davidson, Victoria Murday, Nicola Bradshaw, Lesley Snadden, Mark Longmuir, Catherine Watt, Sarah Gibson, Eshika Haque, Ed Tobias, Alexis Duncan, Louise Izatt, Chris Jacobs, Caroline Langman, Anna Whaite, Huw Dorkins, Julian Barwell, Julian Adlard, Carol Chu, Julie Miller, Ian Ellis, Catherine Houghton, D. Gareth Evans, Fiona Lalloo, Jane Taylor, Lucy Side, Alison Male, Cheryl Berlin, Jacqueline Eason, Rebecca Collier, Fiona Douglas, Oonagh Claber, Irene Jobson, Lisa Walker, Diane McLeod, Dorothy Halliday, Sarah Durell, Barbara Stayner, Ros Eeles, Susan Shanley, Nazneen Rahman, Richard Houlston, Elizabeth Bancroft, Lucia D'Mello, Elizabeth Page, Audrey Ardern-Jones, Kelly Kohut, Jennifer Wiggins, Elena Castro, Anita Mitra, Lisa Robertson, Jackie Cook, Oliver Quarrell, Cathryn Bardsley, Shirley Hodgson, Sheila Goff, Glen Brice, Lizzie Winchester, Charlotte Eddy, Vishakha Tripathi, Virginia Attard, Diana Eccles, Anneke Lucassen, Gillian Crawford, Donna McBride, Sarah Smalley

Research output: Contribution to journalArticle

54 Citations (Scopus)

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 1p11.2 and 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.

Original languageEnglish
Article numberddr226
Pages (from-to)3304-3321
Number of pages18
JournalHuman Molecular Genetics
Volume20
Issue number16
DOIs
Publication statusPublished - Aug 2011

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Alleles
Breast Neoplasms
Single Nucleotide Polymorphism
Mutation
Confidence Intervals
Genome-Wide Association Study
Research Personnel
Genes
Neoplasms

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

Cite this

Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., ... Smalley, S. (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. [ddr226]. https://doi.org/10.1093/hmg/ddr226

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; Crüger, 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; Cajal, Teresa Ramón; Fostira, Florentia; Andrés, 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 Gómez; Peock, Susan; Cook, Margaret; Frost, D.; 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; Frénay, 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; Jønson, 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; Schönbuchner, Ines; Caldes, Trinidad; de la Hoya, Miguel; Nevanlinna, Heli; Aittomäki, 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; Karlsson, Per; Nordling, Margareta; Bergman, Annika; Einbeigi, Zakaria; Stenmark-Askmalm, Marie; Liedgren, Sigrun; Borg, Ake; Loman, Niklas; Olsson, Håkan; Kristoffersson, Ulf; Jernström, Helena; Harbst, Katja; Henriksson, Karin; Lindblom, Annika; Arver, Brita; von Wachenfeldt, Anna; Liljegren, Annelie; Barbany-Bustinza, Gisela; Rantala, Johanna; Melin, Beatrice; Grönberg, Henrik; Stattin, Eva Lena; Emanuelsson, Monica; Ehrencrona, Hans; Brandell, Richard Rosenquist; Dahl, Niklas; Hogervorst, F. B L; Verhoef, S.; Verheus, M.; Veer, L. J van t; van Leeuwen, F. E.; Rookus, M. A.; Collée, M.; van den Ouweland, A. M W; Jager, A.; Hooning, M. J.; Tilanus-Linthorst, M. M A; Seynaeve, C.; van Asperen, C. J.; Wijnen, J. T.; Vreeswijk, M. P.; Tollenaar, R. A.; Devilee, P.; Ligtenberg, M. J.; Hoogerbrugge, N.; Ausems, M. G.; van der Luijt, R. B.; Aalfs, C. M.; van Os, T. A.; Gille, J. J P; Waisfisz, Q.; Meijers-Heijboer, H. E J; Gomez-Garcia, E. B.; van Roozendaal, C. E.; Blok, Marinus J.; Caanen, B.; Oosterwijk, J. C.; van der Hout, A. H.; Mourits, M. J.; Vasen, H. F.; Peock, Susan; Cook, Margaret; Frost, Debra; Platte, Radka; Leyland, Jean; Miedzybrodzka, Zosia; Gregory, Helen; Morrison, Patrick; Jeffers, Lisa; Cole, Trevor; McKeown, Carole; Ong, Kai ren; Hoffman, Jonathan; Donaldson, Alan; Paterson, Joan; Downing, Sarah; Taylor, Amy; Murray, Alexandra; Rogers, Mark T.; McCann, Emma; Kennedy, M. John; Barton, David; Porteous, Mary; Drummond, Sarah; Brewer, Carole; Kivuva, Emma; Searle, Anne; Goodman, Selina; Hill, Kathryn; Davidson, Rosemarie; Murday, Victoria; Bradshaw, Nicola; Snadden, Lesley; Longmuir, Mark; Watt, Catherine; Gibson, Sarah; Haque, Eshika; Tobias, Ed; Duncan, Alexis; Izatt, Louise; Jacobs, Chris; Langman, Caroline; Whaite, Anna; Dorkins, Huw; Barwell, Julian; Adlard, Julian; Chu, Carol; Miller, Julie; Ellis, Ian; Houghton, Catherine; Evans, D. Gareth; Lalloo, Fiona; Taylor, Jane; Side, Lucy; Male, Alison; Berlin, Cheryl; Eason, Jacqueline; Collier, Rebecca; Douglas, Fiona; Claber, Oonagh; Jobson, Irene; Walker, Lisa; McLeod, Diane; Halliday, Dorothy; Durell, Sarah; Stayner, Barbara; Eeles, Ros; Shanley, Susan; Rahman, Nazneen; Houlston, Richard; Bancroft, Elizabeth; D'Mello, Lucia; Page, Elizabeth; Ardern-Jones, Audrey; Kohut, Kelly; Wiggins, Jennifer; Castro, Elena; Mitra, Anita; Robertson, Lisa; Cook, Jackie; Quarrell, Oliver; Bardsley, Cathryn; Hodgson, Shirley; Goff, Sheila; Brice, Glen; Winchester, Lizzie; Eddy, Charlotte; Tripathi, Vishakha; Attard, Virginia; Eccles, Diana; Lucassen, Anneke; Crawford, Gillian; McBride, Donna; Smalley, Sarah.

In: Human Molecular Genetics, Vol. 20, No. 16, ddr226, 08.2011, p. 3304-3321.

Research output: Contribution to journalArticle

Antoniou, AC, Kartsonaki, C, Sinilnikova, OM, Soucy, P, McGuffog, L, Healey, S, Lee, A, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Cattaneo, E, Barile, M, Pensotti, V, Pasini, B, Dolcetti, R, Giannini, G, Putignano, AL, Varesco, L, Radice, P, Mai, PL, Greene, MH, Andrulis, IL, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, AM, Kruse, TA, Jensen, UB, Crüger, DG, Caligo, MA, Laitman, Y, Milgrom, R, Kaufman, B, Paluch-Shimon, S, Friedman, E, Loman, N, Harbst, K, Lindblom, A, Arver, B, Ehrencrona, H, Melin, B, Nathanson, KL, Domchek, SM, Rebbeck, T, Jakubowska, A, Lubinski, J, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Gorski, B, Osorio, A, Cajal, TR, Fostira, F, Andrés, R, Benitez, J, Hamann, U, Hogervorst, FB, Rookus, MA, Hooning, MJ, Nelen, MR, van der Luijt, RB, van Os, TAM, van Asperen, CJ, Devilee, P, Meijers-Heijboer, HEJ, Garcia, EBG, Peock, S, Cook, M, Frost, D, Platte, R, Leyland, J, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Adlard, J, Davidson, R, Eccles, D, Ong, KR, Cook, J, Douglas, F, Paterson, J, Kennedy, MJ, Miedzybrodzka, Z, Godwin, A, Stoppa-Lyonnet, D, Buecher, B, Belotti, M, Tirapo, C, Mazoyer, S, Barjhoux, L, Lasset, C, Leroux, D, Faivre, L, Bronner, M, Prieur, F, Nogues, C, Rouleau, E, Pujol, P, Coupier, I, Frénay, M, Hopper, JL, Daly, MB, Terry, MB, John, EM, Buys, SS, Yassin, Y, Miron, A, Goldgar, D, Singer, CF, Tea, MK, Pfeiler, G, Dressler, AC, Hansen, TVO, Jønson, L, Ejlertsen, B, Barkardottir, RB, Kirchhoff, T, Offit, K, Piedmonte, M, Rodriguez, G, Small, L, Boggess, J, Blank, S, Basil, J, Azodi, M, Toland, AE, Montagna, M, Tognazzo, S, Agata, S, Imyanitov, E, Janavicius, R, Lazaro, C, Blanco, I, Pharoah, PDP, Sucheston, L, Karlan, BY, Walsh, CS, Olah, E, Bozsik, A, Teo, SH, Seldon, JL, Beattie, MS, van Rensburg, EJ, Sluiter, MD, Diez, O, Schmutzler, RK, Wappenschmidt, B, Engel, C, Meindl, A, Ruehl, I, Varon-Mateeva, R, Kast, K, Deissler, H, Niederacher, D, Arnold, N, Gadzicki, D, Schönbuchner, I, Caldes, T, de la Hoya, M, Nevanlinna, H, Aittomäki, K, Dumont, M, Chiquette, J, Tischkowitz, M, Chen, X, Beesley, J, Spurdle, AB, Neuhausen, SL, Ding, YC, Fredericksen, Z, Wang, X, Pankratz, VS, Couch, F, Simard, J, Easton, DF, Chenevix-Trench, G, Karlsson, P, Nordling, M, Bergman, A, Einbeigi, Z, Stenmark-Askmalm, M, Liedgren, S, Borg, A, Loman, N, Olsson, H, Kristoffersson, U, Jernström, H, Harbst, K, Henriksson, K, Lindblom, A, Arver, B, von Wachenfeldt, A, Liljegren, A, Barbany-Bustinza, G, Rantala, J, Melin, B, Grönberg, H, Stattin, EL, Emanuelsson, M, Ehrencrona, H, Brandell, RR, Dahl, N, Hogervorst, FBL, Verhoef, S, Verheus, M, Veer, LJVT, van Leeuwen, FE, Rookus, MA, Collée, M, van den Ouweland, AMW, Jager, A, Hooning, MJ, Tilanus-Linthorst, MMA, Seynaeve, C, van Asperen, CJ, Wijnen, JT, Vreeswijk, MP, Tollenaar, RA, Devilee, P, Ligtenberg, MJ, Hoogerbrugge, N, Ausems, MG, van der Luijt, RB, Aalfs, CM, van Os, TA, Gille, JJP, Waisfisz, Q, Meijers-Heijboer, HEJ, Gomez-Garcia, EB, van Roozendaal, CE, Blok, MJ, Caanen, B, Oosterwijk, JC, van der Hout, AH, Mourits, MJ, Vasen, HF, Peock, S, Cook, M, Frost, D, Platte, R, Leyland, J, Miedzybrodzka, Z, Gregory, H, Morrison, P, Jeffers, L, Cole, T, McKeown, C, Ong, KR, Hoffman, J, Donaldson, A, Paterson, J, Downing, S, Taylor, A, Murray, A, Rogers, MT, McCann, E, Kennedy, MJ, Barton, D, Porteous, M, Drummond, S, Brewer, C, Kivuva, E, Searle, A, Goodman, S, Hill, K, Davidson, R, Murday, V, Bradshaw, N, Snadden, L, Longmuir, M, Watt, C, Gibson, S, Haque, E, Tobias, E, Duncan, A, Izatt, L, Jacobs, C, Langman, C, Whaite, A, Dorkins, H, Barwell, J, Adlard, J, Chu, C, Miller, J, Ellis, I, Houghton, C, Evans, DG, Lalloo, F, Taylor, J, Side, L, Male, A, Berlin, C, Eason, J, Collier, R, Douglas, F, Claber, O, Jobson, I, Walker, L, McLeod, D, Halliday, D, Durell, S, Stayner, B, Eeles, R, Shanley, S, Rahman, N, Houlston, R, Bancroft, E, D'Mello, L, Page, E, Ardern-Jones, A, Kohut, K, Wiggins, J, Castro, E, Mitra, A, Robertson, L, Cook, J, Quarrell, O, Bardsley, C, Hodgson, S, Goff, S, Brice, G, Winchester, L, Eddy, C, Tripathi, V, Attard, V, Eccles, D, Lucassen, A, Crawford, G, McBride, D & Smalley, S 2011, 'Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers', Human Molecular Genetics, vol. 20, no. 16, ddr226, pp. 3304-3321. https://doi.org/10.1093/hmg/ddr226
Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S et al. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics. 2011 Aug;20(16):3304-3321. ddr226. https://doi.org/10.1093/hmg/ddr226
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 ; Crüger, 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 ; Cajal, Teresa Ramón ; Fostira, Florentia ; Andrés, 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 Gómez ; Peock, Susan ; Cook, Margaret ; Frost, D. ; 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 ; Frénay, 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 ; Jønson, 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 ; Schönbuchner, Ines ; Caldes, Trinidad ; de la Hoya, Miguel ; Nevanlinna, Heli ; Aittomäki, 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 ; Karlsson, Per ; Nordling, Margareta ; Bergman, Annika ; Einbeigi, Zakaria ; Stenmark-Askmalm, Marie ; Liedgren, Sigrun ; Borg, Ake ; Loman, Niklas ; Olsson, Håkan ; Kristoffersson, Ulf ; Jernström, Helena ; Harbst, Katja ; Henriksson, Karin ; Lindblom, Annika ; Arver, Brita ; von Wachenfeldt, Anna ; Liljegren, Annelie ; Barbany-Bustinza, Gisela ; Rantala, Johanna ; Melin, Beatrice ; Grönberg, Henrik ; Stattin, Eva Lena ; Emanuelsson, Monica ; Ehrencrona, Hans ; Brandell, Richard Rosenquist ; Dahl, Niklas ; Hogervorst, F. B L ; Verhoef, S. ; Verheus, M. ; Veer, L. J van t ; van Leeuwen, F. E. ; Rookus, M. A. ; Collée, M. ; van den Ouweland, A. M W ; Jager, A. ; Hooning, M. J. ; Tilanus-Linthorst, M. M A ; Seynaeve, C. ; van Asperen, C. J. ; Wijnen, J. T. ; Vreeswijk, M. P. ; Tollenaar, R. A. ; Devilee, P. ; Ligtenberg, M. J. ; Hoogerbrugge, N. ; Ausems, M. G. ; van der Luijt, R. B. ; Aalfs, C. M. ; van Os, T. A. ; Gille, J. J P ; Waisfisz, Q. ; Meijers-Heijboer, H. E J ; Gomez-Garcia, E. B. ; van Roozendaal, C. E. ; Blok, Marinus J. ; Caanen, B. ; Oosterwijk, J. C. ; van der Hout, A. H. ; Mourits, M. J. ; Vasen, H. F. ; Peock, Susan ; Cook, Margaret ; Frost, Debra ; Platte, Radka ; Leyland, Jean ; Miedzybrodzka, Zosia ; Gregory, Helen ; Morrison, Patrick ; Jeffers, Lisa ; Cole, Trevor ; McKeown, Carole ; Ong, Kai ren ; Hoffman, Jonathan ; Donaldson, Alan ; Paterson, Joan ; Downing, Sarah ; Taylor, Amy ; Murray, Alexandra ; Rogers, Mark T. ; McCann, Emma ; Kennedy, M. John ; Barton, David ; Porteous, Mary ; Drummond, Sarah ; Brewer, Carole ; Kivuva, Emma ; Searle, Anne ; Goodman, Selina ; Hill, Kathryn ; Davidson, Rosemarie ; Murday, Victoria ; Bradshaw, Nicola ; Snadden, Lesley ; Longmuir, Mark ; Watt, Catherine ; Gibson, Sarah ; Haque, Eshika ; Tobias, Ed ; Duncan, Alexis ; Izatt, Louise ; Jacobs, Chris ; Langman, Caroline ; Whaite, Anna ; Dorkins, Huw ; Barwell, Julian ; Adlard, Julian ; Chu, Carol ; Miller, Julie ; Ellis, Ian ; Houghton, Catherine ; Evans, D. Gareth ; Lalloo, Fiona ; Taylor, Jane ; Side, Lucy ; Male, Alison ; Berlin, Cheryl ; Eason, Jacqueline ; Collier, Rebecca ; Douglas, Fiona ; Claber, Oonagh ; Jobson, Irene ; Walker, Lisa ; McLeod, Diane ; Halliday, Dorothy ; Durell, Sarah ; Stayner, Barbara ; Eeles, Ros ; Shanley, Susan ; Rahman, Nazneen ; Houlston, Richard ; Bancroft, Elizabeth ; D'Mello, Lucia ; Page, Elizabeth ; Ardern-Jones, Audrey ; Kohut, Kelly ; Wiggins, Jennifer ; Castro, Elena ; Mitra, Anita ; Robertson, Lisa ; Cook, Jackie ; Quarrell, Oliver ; Bardsley, Cathryn ; Hodgson, Shirley ; Goff, Sheila ; Brice, Glen ; Winchester, Lizzie ; Eddy, Charlotte ; Tripathi, Vishakha ; Attard, Virginia ; Eccles, Diana ; Lucassen, Anneke ; Crawford, Gillian ; McBride, Donna ; Smalley, Sarah. / Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. In: Human Molecular Genetics. 2011 ; Vol. 20, No. 16. pp. 3304-3321.
@article{6400143c2bef4026b52a7a59b7f0bc94,
title = "Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers",
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 1p11.2 and 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.",
author = "Antoniou, {Antonis C.} and Christiana Kartsonaki and Sinilnikova, {Olga M.} and Penny Soucy and Lesley McGuffog and Sue Healey and Andrew Lee and Paolo Peterlongo and Siranoush Manoukian and Bernard Peissel and Daniela Zaffaroni and Elisa Cattaneo and Monica Barile and Valeria Pensotti and Barbara Pasini and Riccardo Dolcetti and Giuseppe Giannini and Putignano, {Anna Laura} and Liliana Varesco and Paolo Radice and Mai, {Phuong L.} and Greene, {Mark H.} and Andrulis, {Irene L.} and Gord Glendon and Hilmi Ozcelik and Mads Thomassen and Gerdes, {Anne Marie} and Kruse, {Torben A.} and Jensen, {Uffe Birk} and Cr{\"u}ger, {Dorthe G.} and Caligo, {Maria A.} and Yael Laitman and Roni Milgrom and Bella Kaufman and Shani Paluch-Shimon and Eitan Friedman and Niklas Loman and Katja Harbst and Annika Lindblom and Brita Arver and Hans Ehrencrona and Beatrice Melin and Nathanson, {Katherine L.} and Domchek, {Susan M.} and Timothy Rebbeck and Ania Jakubowska and Jan Lubinski and Jacek Gronwald and Tomasz Huzarski and Tomasz Byrski and Cezary Cybulski and Bohdan Gorski and Ana Osorio and Cajal, {Teresa Ram{\'o}n} and Florentia Fostira and Raquel Andr{\'e}s and Javier Benitez and Ute Hamann and Hogervorst, {Frans B.} and Rookus, {Matti A.} and Hooning, {Maartje J.} and Nelen, {Marcel R.} and {van der Luijt}, {Rob B.} and {van Os}, {Theo A M} and {van Asperen}, {Christi J.} and Peter Devilee and Meijers-Heijboer, {Hanne E J} and Garcia, {Encarna B G{\'o}mez} and Susan Peock and Margaret Cook and D. Frost and Radka Platte and Jean Leyland and Evans, {D. Gareth} and Fiona Lalloo and Ros Eeles and Louise Izatt and Julian Adlard and Rosemarie Davidson and Diana Eccles and Ong, {Kai Ren} and Jackie Cook and Fiona Douglas and Joan Paterson and Kennedy, {M. John} and Zosia Miedzybrodzka and Andrew Godwin and Dominique Stoppa-Lyonnet and Bruno Buecher and Muriel Belotti and Carole Tirapo and Sylvie Mazoyer and Laure Barjhoux and Christine Lasset and Dominique Leroux and Laurence Faivre and Myriam Bronner and Fabienne Prieur and Catherine Nogues and Etienne Rouleau and Pascal Pujol and Isabelle Coupier and Marc Fr{\'e}nay and Hopper, {John L.} and Daly, {Mary B.} and Terry, {Mary B.} and John, {Esther M.} and Buys, {Saundra S.} and Yosuf Yassin and Alexander Miron and David Goldgar and Singer, {Christian F.} and Tea, {Muy Kheng} and Georg Pfeiler and Dressler, {Anne Catharina} and Hansen, {Thomas v O} and Lars J{\o}nson and Bent Ejlertsen and Barkardottir, {Rosa Bjork} and Tomas Kirchhoff and Kenneth Offit and Marion Piedmonte and Gustavo Rodriguez and Laurie Small and John Boggess and Stephanie Blank and Jack Basil and Masoud Azodi and Toland, {Amanda Ewart} and Marco Montagna and Silvia Tognazzo and Simona Agata and Evgeny Imyanitov and Ramunas Janavicius and Conxi Lazaro and Ignacio Blanco and Pharoah, {Paul D P} and Lara Sucheston and Karlan, {Beth Y.} and Walsh, {Christine S.} and Edith Olah and Aniko Bozsik and Teo, {Soo Hwang} and Seldon, {Joyce L.} and Beattie, {Mary S.} and {van Rensburg}, {Elizabeth J.} and Sluiter, {Michelle D.} and Orland Diez and Schmutzler, {Rita K.} and Barbara Wappenschmidt and Christoph Engel and Alfons Meindl and Ina Ruehl and Raymonda Varon-Mateeva and Karin Kast and Helmut Deissler and Dieter Niederacher and Norbert Arnold and Dorothea Gadzicki and Ines Sch{\"o}nbuchner and Trinidad Caldes and {de la Hoya}, Miguel and Heli Nevanlinna and Kristiina Aittom{\"a}ki and Martine Dumont and Jocelyne Chiquette and Marc Tischkowitz and Xiaoqing Chen and Jonathan Beesley and Spurdle, {Amanda B.} and Neuhausen, {Susan L.} and Ding, {Yuan Chun} and Zachary Fredericksen and Xianshu Wang and Pankratz, {Vernon S.} and Fergus Couch and Jacques Simard and Easton, {Douglas F.} and Georgia Chenevix-Trench and Per Karlsson and Margareta Nordling and Annika Bergman and Zakaria Einbeigi and Marie Stenmark-Askmalm and Sigrun Liedgren and Ake Borg and Niklas Loman and H{\aa}kan Olsson and Ulf Kristoffersson and Helena Jernstr{\"o}m and Katja Harbst and Karin Henriksson and Annika Lindblom and Brita Arver and {von Wachenfeldt}, Anna and Annelie Liljegren and Gisela Barbany-Bustinza and Johanna Rantala and Beatrice Melin and Henrik Gr{\"o}nberg and Stattin, {Eva Lena} and Monica Emanuelsson and Hans Ehrencrona and Brandell, {Richard Rosenquist} and Niklas Dahl and Hogervorst, {F. B L} and S. Verhoef and M. Verheus and Veer, {L. J van t} and {van Leeuwen}, {F. E.} and Rookus, {M. A.} and M. Coll{\'e}e and {van den Ouweland}, {A. M W} and A. Jager and Hooning, {M. J.} and Tilanus-Linthorst, {M. M A} and C. Seynaeve and {van Asperen}, {C. J.} and Wijnen, {J. T.} and Vreeswijk, {M. P.} and Tollenaar, {R. A.} and P. Devilee and Ligtenberg, {M. J.} and N. Hoogerbrugge and Ausems, {M. G.} and {van der Luijt}, {R. B.} and Aalfs, {C. M.} and {van Os}, {T. A.} and Gille, {J. J P} and Q. Waisfisz and Meijers-Heijboer, {H. E J} and Gomez-Garcia, {E. B.} and {van Roozendaal}, {C. E.} and Blok, {Marinus J.} and B. Caanen and Oosterwijk, {J. C.} and {van der Hout}, {A. H.} and Mourits, {M. J.} and Vasen, {H. F.} and Susan Peock and Margaret Cook and Debra Frost and Radka Platte and Jean Leyland and Zosia Miedzybrodzka and Helen Gregory and Patrick Morrison and Lisa Jeffers and Trevor Cole and Carole McKeown and Ong, {Kai ren} and Jonathan Hoffman and Alan Donaldson and Joan Paterson and Sarah Downing and Amy Taylor and Alexandra Murray and Rogers, {Mark T.} and Emma McCann and Kennedy, {M. John} and David Barton and Mary Porteous and Sarah Drummond and Carole Brewer and Emma Kivuva and Anne Searle and Selina Goodman and Kathryn Hill and Rosemarie Davidson and Victoria Murday and Nicola Bradshaw and Lesley Snadden and Mark Longmuir and Catherine Watt and Sarah Gibson and Eshika Haque and Ed Tobias and Alexis Duncan and Louise Izatt and Chris Jacobs and Caroline Langman and Anna Whaite and Huw Dorkins and Julian Barwell and Julian Adlard and Carol Chu and Julie Miller and Ian Ellis and Catherine Houghton and Evans, {D. Gareth} and Fiona Lalloo and Jane Taylor and Lucy Side and Alison Male and Cheryl Berlin and Jacqueline Eason and Rebecca Collier and Fiona Douglas and Oonagh Claber and Irene Jobson and Lisa Walker and Diane McLeod and Dorothy Halliday and Sarah Durell and Barbara Stayner and Ros Eeles and Susan Shanley and Nazneen Rahman and Richard Houlston and Elizabeth Bancroft and Lucia D'Mello and Elizabeth Page and Audrey Ardern-Jones and Kelly Kohut and Jennifer Wiggins and Elena Castro and Anita Mitra and Lisa Robertson and Jackie Cook and Oliver Quarrell and Cathryn Bardsley and Shirley Hodgson and Sheila Goff and Glen Brice and Lizzie Winchester and Charlotte Eddy and Vishakha Tripathi and Virginia Attard and Diana Eccles and Anneke Lucassen and Gillian Crawford and Donna McBride and Sarah Smalley",
year = "2011",
month = "8",
doi = "10.1093/hmg/ddr226",
language = "English",
volume = "20",
pages = "3304--3321",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "16",

}

TY - JOUR

T1 - Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

AU - Antoniou, Antonis C.

AU - Kartsonaki, Christiana

AU - Sinilnikova, Olga M.

AU - Soucy, Penny

AU - McGuffog, Lesley

AU - Healey, Sue

AU - Lee, Andrew

AU - Peterlongo, Paolo

AU - Manoukian, Siranoush

AU - Peissel, Bernard

AU - Zaffaroni, Daniela

AU - Cattaneo, Elisa

AU - Barile, Monica

AU - Pensotti, Valeria

AU - Pasini, Barbara

AU - Dolcetti, Riccardo

AU - Giannini, Giuseppe

AU - Putignano, Anna Laura

AU - Varesco, Liliana

AU - Radice, Paolo

AU - Mai, Phuong L.

AU - Greene, Mark H.

AU - Andrulis, Irene L.

AU - Glendon, Gord

AU - Ozcelik, Hilmi

AU - Thomassen, Mads

AU - Gerdes, Anne Marie

AU - Kruse, Torben A.

AU - Jensen, Uffe Birk

AU - Crüger, Dorthe G.

AU - Caligo, Maria A.

AU - Laitman, Yael

AU - Milgrom, Roni

AU - Kaufman, Bella

AU - Paluch-Shimon, Shani

AU - Friedman, Eitan

AU - Loman, Niklas

AU - Harbst, Katja

AU - Lindblom, Annika

AU - Arver, Brita

AU - Ehrencrona, Hans

AU - Melin, Beatrice

AU - Nathanson, Katherine L.

AU - Domchek, Susan M.

AU - Rebbeck, Timothy

AU - Jakubowska, Ania

AU - Lubinski, Jan

AU - Gronwald, Jacek

AU - Huzarski, Tomasz

AU - Byrski, Tomasz

AU - Cybulski, Cezary

AU - Gorski, Bohdan

AU - Osorio, Ana

AU - Cajal, Teresa Ramón

AU - Fostira, Florentia

AU - Andrés, Raquel

AU - Benitez, Javier

AU - Hamann, Ute

AU - Hogervorst, Frans B.

AU - Rookus, Matti A.

AU - Hooning, Maartje J.

AU - Nelen, Marcel R.

AU - van der Luijt, Rob B.

AU - van Os, Theo A M

AU - van Asperen, Christi J.

AU - Devilee, Peter

AU - Meijers-Heijboer, Hanne E J

AU - Garcia, Encarna B Gómez

AU - Peock, Susan

AU - Cook, Margaret

AU - Frost, D.

AU - Platte, Radka

AU - Leyland, Jean

AU - Evans, D. Gareth

AU - Lalloo, Fiona

AU - Eeles, Ros

AU - Izatt, Louise

AU - Adlard, Julian

AU - Davidson, Rosemarie

AU - Eccles, Diana

AU - Ong, Kai Ren

AU - Cook, Jackie

AU - Douglas, Fiona

AU - Paterson, Joan

AU - Kennedy, M. John

AU - Miedzybrodzka, Zosia

AU - Godwin, Andrew

AU - Stoppa-Lyonnet, Dominique

AU - Buecher, Bruno

AU - Belotti, Muriel

AU - Tirapo, Carole

AU - Mazoyer, Sylvie

AU - Barjhoux, Laure

AU - Lasset, Christine

AU - Leroux, Dominique

AU - Faivre, Laurence

AU - Bronner, Myriam

AU - Prieur, Fabienne

AU - Nogues, Catherine

AU - Rouleau, Etienne

AU - Pujol, Pascal

AU - Coupier, Isabelle

AU - Frénay, Marc

AU - Hopper, John L.

AU - Daly, Mary B.

AU - Terry, Mary B.

AU - John, Esther M.

AU - Buys, Saundra S.

AU - Yassin, Yosuf

AU - Miron, Alexander

AU - Goldgar, David

AU - Singer, Christian F.

AU - Tea, Muy Kheng

AU - Pfeiler, Georg

AU - Dressler, Anne Catharina

AU - Hansen, Thomas v O

AU - Jønson, Lars

AU - Ejlertsen, Bent

AU - Barkardottir, Rosa Bjork

AU - Kirchhoff, Tomas

AU - Offit, Kenneth

AU - Piedmonte, Marion

AU - Rodriguez, Gustavo

AU - Small, Laurie

AU - Boggess, John

AU - Blank, Stephanie

AU - Basil, Jack

AU - Azodi, Masoud

AU - Toland, Amanda Ewart

AU - Montagna, Marco

AU - Tognazzo, Silvia

AU - Agata, Simona

AU - Imyanitov, Evgeny

AU - Janavicius, Ramunas

AU - Lazaro, Conxi

AU - Blanco, Ignacio

AU - Pharoah, Paul D P

AU - Sucheston, Lara

AU - Karlan, Beth Y.

AU - Walsh, Christine S.

AU - Olah, Edith

AU - Bozsik, Aniko

AU - Teo, Soo Hwang

AU - Seldon, Joyce L.

AU - Beattie, Mary S.

AU - van Rensburg, Elizabeth J.

AU - Sluiter, Michelle D.

AU - Diez, Orland

AU - Schmutzler, Rita K.

AU - Wappenschmidt, Barbara

AU - Engel, Christoph

AU - Meindl, Alfons

AU - Ruehl, Ina

AU - Varon-Mateeva, Raymonda

AU - Kast, Karin

AU - Deissler, Helmut

AU - Niederacher, Dieter

AU - Arnold, Norbert

AU - Gadzicki, Dorothea

AU - Schönbuchner, Ines

AU - Caldes, Trinidad

AU - de la Hoya, Miguel

AU - Nevanlinna, Heli

AU - Aittomäki, Kristiina

AU - Dumont, Martine

AU - Chiquette, Jocelyne

AU - Tischkowitz, Marc

AU - Chen, Xiaoqing

AU - Beesley, Jonathan

AU - Spurdle, Amanda B.

AU - Neuhausen, Susan L.

AU - Ding, Yuan Chun

AU - Fredericksen, Zachary

AU - Wang, Xianshu

AU - Pankratz, Vernon S.

AU - Couch, Fergus

AU - Simard, Jacques

AU - Easton, Douglas F.

AU - Chenevix-Trench, Georgia

AU - Karlsson, Per

AU - Nordling, Margareta

AU - Bergman, Annika

AU - Einbeigi, Zakaria

AU - Stenmark-Askmalm, Marie

AU - Liedgren, Sigrun

AU - Borg, Ake

AU - Loman, Niklas

AU - Olsson, Håkan

AU - Kristoffersson, Ulf

AU - Jernström, Helena

AU - Harbst, Katja

AU - Henriksson, Karin

AU - Lindblom, Annika

AU - Arver, Brita

AU - von Wachenfeldt, Anna

AU - Liljegren, Annelie

AU - Barbany-Bustinza, Gisela

AU - Rantala, Johanna

AU - Melin, Beatrice

AU - Grönberg, Henrik

AU - Stattin, Eva Lena

AU - Emanuelsson, Monica

AU - Ehrencrona, Hans

AU - Brandell, Richard Rosenquist

AU - Dahl, Niklas

AU - Hogervorst, F. B L

AU - Verhoef, S.

AU - Verheus, M.

AU - Veer, L. J van t

AU - van Leeuwen, F. E.

AU - Rookus, M. A.

AU - Collée, M.

AU - van den Ouweland, A. M W

AU - Jager, A.

AU - Hooning, M. J.

AU - Tilanus-Linthorst, M. M A

AU - Seynaeve, C.

AU - van Asperen, C. J.

AU - Wijnen, J. T.

AU - Vreeswijk, M. P.

AU - Tollenaar, R. A.

AU - Devilee, P.

AU - Ligtenberg, M. J.

AU - Hoogerbrugge, N.

AU - Ausems, M. G.

AU - van der Luijt, R. B.

AU - Aalfs, C. M.

AU - van Os, T. A.

AU - Gille, J. J P

AU - Waisfisz, Q.

AU - Meijers-Heijboer, H. E J

AU - Gomez-Garcia, E. B.

AU - van Roozendaal, C. E.

AU - Blok, Marinus J.

AU - Caanen, B.

AU - Oosterwijk, J. C.

AU - van der Hout, A. H.

AU - Mourits, M. J.

AU - Vasen, H. F.

AU - Peock, Susan

AU - Cook, Margaret

AU - Frost, Debra

AU - Platte, Radka

AU - Leyland, Jean

AU - Miedzybrodzka, Zosia

AU - Gregory, Helen

AU - Morrison, Patrick

AU - Jeffers, Lisa

AU - Cole, Trevor

AU - McKeown, Carole

AU - Ong, Kai ren

AU - Hoffman, Jonathan

AU - Donaldson, Alan

AU - Paterson, Joan

AU - Downing, Sarah

AU - Taylor, Amy

AU - Murray, Alexandra

AU - Rogers, Mark T.

AU - McCann, Emma

AU - Kennedy, M. John

AU - Barton, David

AU - Porteous, Mary

AU - Drummond, Sarah

AU - Brewer, Carole

AU - Kivuva, Emma

AU - Searle, Anne

AU - Goodman, Selina

AU - Hill, Kathryn

AU - Davidson, Rosemarie

AU - Murday, Victoria

AU - Bradshaw, Nicola

AU - Snadden, Lesley

AU - Longmuir, Mark

AU - Watt, Catherine

AU - Gibson, Sarah

AU - Haque, Eshika

AU - Tobias, Ed

AU - Duncan, Alexis

AU - Izatt, Louise

AU - Jacobs, Chris

AU - Langman, Caroline

AU - Whaite, Anna

AU - Dorkins, Huw

AU - Barwell, Julian

AU - Adlard, Julian

AU - Chu, Carol

AU - Miller, Julie

AU - Ellis, Ian

AU - Houghton, Catherine

AU - Evans, D. Gareth

AU - Lalloo, Fiona

AU - Taylor, Jane

AU - Side, Lucy

AU - Male, Alison

AU - Berlin, Cheryl

AU - Eason, Jacqueline

AU - Collier, Rebecca

AU - Douglas, Fiona

AU - Claber, Oonagh

AU - Jobson, Irene

AU - Walker, Lisa

AU - McLeod, Diane

AU - Halliday, Dorothy

AU - Durell, Sarah

AU - Stayner, Barbara

AU - Eeles, Ros

AU - Shanley, Susan

AU - Rahman, Nazneen

AU - Houlston, Richard

AU - Bancroft, Elizabeth

AU - D'Mello, Lucia

AU - Page, Elizabeth

AU - Ardern-Jones, Audrey

AU - Kohut, Kelly

AU - Wiggins, Jennifer

AU - Castro, Elena

AU - Mitra, Anita

AU - Robertson, Lisa

AU - Cook, Jackie

AU - Quarrell, Oliver

AU - Bardsley, Cathryn

AU - Hodgson, Shirley

AU - Goff, Sheila

AU - Brice, Glen

AU - Winchester, Lizzie

AU - Eddy, Charlotte

AU - Tripathi, Vishakha

AU - Attard, Virginia

AU - Eccles, Diana

AU - Lucassen, Anneke

AU - Crawford, Gillian

AU - McBride, Donna

AU - Smalley, Sarah

PY - 2011/8

Y1 - 2011/8

N2 - 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 1p11.2 and 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.

AB - 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 1p11.2 and 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.

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U2 - 10.1093/hmg/ddr226

DO - 10.1093/hmg/ddr226

M3 - Article

VL - 20

SP - 3304

EP - 3321

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 16

M1 - ddr226

ER -