Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
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: rs112...
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| Tipo de documento: | Artículo |
| Estado: | Published version |
| Fecha de publicación: | 2011 |
| País: | España |
| Institución: | Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau) |
| Repositorio: | r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau |
| OAI Identifier: | oai:iibsantpau.fundanetsuite.com:p11832 |
| Acceso en línea: | https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11832 |
| Nivel de acceso: | Acceso abierto |
| _version_ | 1878735125373517824 |
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| author | Antoniou, AC |
| author2 | 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 Cruger, 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, TRY Fostira, F Andres, 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 Frenay, 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, TV Jonson, 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 Schonbuchner, I Caldes, T de la Hoya, M Nevanlinna, H Aittomaki, K Dumont, M Chiquette, J Tischkowitz, M Chen, XQ Beesley, J Spurdle, AB Neuhausen, SL Ding, YC Fredericksen, Z Wang, X Pankratz, VS Couch, F Simard, J Easton, DF Chenevix-Trench, G |
| author2_role | author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| author_browse | Adlard, J Agata, S Aittomaki, K Andres, R Andrulis, IL Antoniou, AC Arnold, N Arver, B Azodi, M Barile, M Barjhoux, L Barkardottir, RB Basil, J Beattie, MS Beesley, J Belotti, M Benitez, J Blanco, I Blank, S Boggess, J Bozsik, A Bronner, M Buecher, B Buys, SS Byrski, T Cajal, TRY Caldes, T Caligo, MA Cattaneo, E Chen, XQ Chenevix-Trench, G Chiquette, J Cook, J Cook, M Couch, F Coupier, I Cruger, DG Cybulski, C Daly, MB Davidson, R Deissler, H Devilee, P Diez, O Ding, YC Dolcetti, R Domchek, SM Douglas, F Dressler, AC Dumont, M Easton, DF Eccles, D Eeles, R Ehrencrona, H Ejlertsen, B Engel, C Evans, DG Faivre, L Fostira, F Fredericksen, Z Frenay, M Friedman, E Frost, D Gadzicki, D Garcia, EBG Gerdes, AM Giannini, G Glendon, G Godwin, A Goldgar, D Gorski, B Greene, MH Gronwald, J Hamann, U Hansen, TV Harbst, K Healey, S Hogervorst, FB Hooning, MJ Hopper, JL Huzarski, T Imyanitov, E Izatt, L Jakubowska, A Janavicius, R Jensen, UB John, EM Jonson, L Karlan, BY Kartsonaki, C Kast, K Kaufman, B Kennedy, MJ Kirchhoff, T Kruse, TA Laitman, Y Lalloo, F Lasset, C Lazaro, C Lee, A Leroux, D Leyland, J Lindblom, A Loman, N Lubinski, J Mai, PL Manoukian, S Mazoyer, S McGuffog, L Meijers-Heijboer, HEJ Meindl, A Melin, B Miedzybrodzka, Z Milgrom, R Miron, A Montagna, M Nathanson, KL Nelen, MR Neuhausen, SL Nevanlinna, H Niederacher, D Nogues, C Offit, K Olah, E Ong, KR Osorio, A Ozcelik, H Paluch-Shimon, S Pankratz, VS Pasini, B Paterson, J Peissel, B Pensotti, V Peock, S Peterlongo, P Pfeiler, G Pharoah, PDP Piedmonte, M Platte, R Prieur, F Pujol, P Putignano, AL Radice, P Rebbeck, T Rodriguez, G Rookus, MA Rouleau, E Ruehl, I Schmutzler, RK Schonbuchner, I Seldon, JL Simard, J Singer, CF Sinilnikova, OM Sluiter, MD Small, L Soucy, P Spurdle, AB Stoppa-Lyonnet, D Sucheston, L Tea, MK Teo, SH Terry, MB Thomassen, M Tirapo, C Tischkowitz, M Tognazzo, S Toland, AE Varesco, L Varon-Mateeva, R Walsh, CS Wang, X Wappenschmidt, B Yassin, Y Zaffaroni, D de la Hoya, M van Asperen, CJ van Os, TAM van Rensburg, EJ van der Luijt, RB |
| author_facet | 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 Cruger, 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, TRY Fostira, F Andres, 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 Frenay, 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, TV Jonson, 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 Schonbuchner, I Caldes, T de la Hoya, M Nevanlinna, H Aittomaki, K Dumont, M Chiquette, J Tischkowitz, M Chen, XQ Beesley, J Spurdle, AB Neuhausen, SL Ding, YC Fredericksen, Z Wang, X Pankratz, VS Couch, F Simard, J Easton, DF Chenevix-Trench, G |
| author_role | author |
| collection | r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau |
| description | 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 (r(2) = 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 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_76795e69a013a6bfcae2a125331cfd61 |
| institution | Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau) |
| instname_str | Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau) |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:iibsantpau.fundanetsuite.com:p11832 |
| publishDate | 2011 |
| publishDateSort | 2011 |
| publisher | OXFORD UNIV PRESS |
| publisherStr | OXFORD UNIV PRESS |
| reponame_str | r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau |
| spelling | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers 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 Cruger, 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, TRY Fostira, F Andres, 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 Frenay, 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, TV Jonson, 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 Schonbuchner, I Caldes, T de la Hoya, M Nevanlinna, H Aittomaki, K Dumont, M Chiquette, J Tischkowitz, M Chen, XQ Beesley, J Spurdle, AB Neuhausen, SL Ding, YC Fredericksen, Z Wang, X Pankratz, VS Couch, F Simard, J Easton, DF Chenevix-Trench, G 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 (r(2) = 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 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 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. OXFORD UNIV PRESS https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11832 |
| spellingShingle | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers Antoniou, AC |
| status_str | publishedVersion |
| title | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers |
| title_full | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers |
| title_fullStr | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers |
| title_full_unstemmed | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers |
| title_short | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers |
| title_sort | Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers |
| url | https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11832 |