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1. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis

Abstract

Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916

Published
2011
Full Text
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2. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis

Abstract

Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916

Published
2011
Full Text
View/download PDF

3. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis

Abstract

Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916

Published
2011
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4. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis

Abstract

Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916

Published
2011
Full Text
View/download PDF

5. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, C Antoniou, Antonis, Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas V O, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne E J, Wijnen, Juul, Gomez Garcia, EncarnaB, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine M A, van der Luijt, Rob B, van Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, E Side, Lucy, McCann, Emma, Murray, Alex, Peock, Susan, K Godwin, Andrew, K Schmutzler, Rita, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schaefer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, Francois, Mazoyer, Sylvie, Leone, Melanie, Boutry-Kryza, Nadia, Hardouin, Agnes, Berthet, Pascaline, Muller, Daniele, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomaki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, B Barkardottir, Rosa, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, DAndrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, I Olopade, Olufunmilayo, N Weitzel, Jeffrey, T Lynch, Henry, A Ganz, Patricia, E Tomlinson, Gail, Wang, Xianshu, Fredericksen, Zachary, S Pankratz, Vernon, M Lindor, Noralane, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, F Singer, Christian, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, L Mai, Phuong, H Greene, Mark, Imyanitov, Evgeny, P OMalley, Frances, Ozcelik, Hilmi, Glendon, Gordon, Gerdes, Anne-Marie, Thomassen, Mads, A Kruse, Torben, Birk Jensen, Uffe, Skytte, Anne-Bine, A Caligo, Maria, Soller, Maria, Henriksson, Karin, Anna Wachenfeldt, von, Arver, Brita, Stenmark Askmalm, Marie, Karlsson, Per, Chun Ding, Yuan, L Neuhausen, Susan, Beattie, Mary, D P Pharoah, Paul, B Moysich, Kirsten, L Nathanson, Katherine, Y Karlan, Beth, Gross, Jenny, M John, Esther, B Daly, Mary, M Buys, Saundra, C Southey, Melissa, L Hopper, John, Beth Terry, Mary, Chung, Wendy, F Miron, Alexander, Goldgar, David, Chenevix-Trench, Georgia, F Easton, Douglas, L Andrulis, Irene, and C Antoniou, Antonis

Abstract

Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of, Funding Agencies|Breast Cancer Research Foundation||MacDonald Family Foundation||Komen Foundation||NIH, NCI|P50 CA 058207|Avon Foundation||UCSF Helen Diller Family Comprehensive Cancer Center UK||CRUK||Russian Federation for Basic Research|10-04-9260110-04-9211011-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Commission of the European Communities|PITN-GA-2009-238132|Royal Society|JP090615|US National Cancer Institute||Westat, Inc., Rockville, MD||Starr Cancer Consortium||Norman and Carol Stone Genetic Research Fund||Robert and Kate Niehaus Clinical Genetics Initiative at MSKCC||NIH|CA116167CA128978|Research Excellence (SPORE) in Breast Cancer|CA116201|Ministero della Salute|RFPS 2006-5-341353ACC2/R6.9|Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab)||Icelandic Association||Landspitali University Hospital||NEYE Foundation||Deutsches Krebsforschungszentrum (DKFZ)||Associazione Italiana per la Ricerca sul Cancro|4017|Italian citizens||Fondazione Italiana per la Ricerca sul Cancro||Cancer Research UK|C12292/A11174C1287/A10118C1287/A11990C5047/A8385|NIHR||Eileen Stein Jacoby Fund||University of Kansas Cancer Center||Kansas Bioscience Authority Eminent Scholar Program||Familial Cancer Registry (CI)||Tissue Culture Shared Registry at Georgetown University (NIH/NCI)|P30-CA051008|Cancer Genetics Network|HHSN261200744000C|Swing Fore the Cure||German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) GC-HBOC||German Cancer Aid|109076|Centre of Molecular Medicine Cologne (CMMC)||Ligue National Contre le Cancer||Association for International Cancer|AICR-07-0454|Association "Le cancer du sein, parlons-en!" Award||European Community|223175 (HEALTH-F2-2009-223175)|National Cancer Institute, National Institutes of Health|RFA-CA-06-503|Liepajas municipal council|||NO2-CP-11019-50||N02-CP-65504||U01CA69631||5U01CA113916

Published
2011
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6. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers : Implications for Risk Prediction

Author

Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, M. Sinilnikova, Olga, Healey, Sue, L. Neuhausen, Susan, Chun Ding, Yuan, R. Rebbeck, Timothy, N. Weitzel, Jeffrey, T. Lynch, Henry, Isaacs, Claudine, A. Ganz, Patricia, Tomlinson, Gail, I. Olopade, Olufunmilayo, J. Couch, Fergus, Wang, Xianshu, M. Lindor, Noralane, S. Pankratz, Vernon, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, DallOlio, Valentina, Peterlongo, Paolo, I. Szabo, Csilla, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, L. Mai, Phuong, H. Greene, Mark, Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, L. Andrulis, Irene, Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernstroem, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Duran, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, B. van der Luijt, Rob, J. van Asperen, Christi, Devilee, Peter, J. Meijers-Heijboer, E., J. Blok, Marinus, M. Aalfs, Cora, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Gareth Evans, D., Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, J. Morrison, Patrick, E. Porteous, Mary, Walker, Lisa, John Kennedy, M., Dorkins, Huw, Peock, Susan, K. Godwin, Andrew, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valerie, Lasset, Christine, Dreyfus, Helene, Leroux, Dominique, Hardouin, Agnes, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frenay, Marc, Venat-Bouvet, Laurence, L. Hopper, John, B. Daly, Mary, B. Terry, Mary, M. John, Esther, S. Buys, Saundra, Yassin, Yosuf, Miron, Alexander, Goldgar, David, F. Singer, Christian, Catharina Dressler, Anne, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, V. O. Hansen, Thomas, Jnson, Lars, A. Agnarsson, Bjarni, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, C. Rodriguez, Gustavo, Wakeley, Katie, F. Boggess, John, Basil, Jack, E. Schwartz, Peter, V. Blank, Stephanie, Ewart Toland, Amanda, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, J. Ramus, Susan, Sucheston, Lara, Y. Karlan, Beth, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schoenbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomaeki, Kristiina, Nevanlinna, Heli, Simard, Jacques, B. Spurdle, Amanda, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, F. Easton, Douglas, Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, M. Sinilnikova, Olga, Healey, Sue, L. Neuhausen, Susan, Chun Ding, Yuan, R. Rebbeck, Timothy, N. Weitzel, Jeffrey, T. Lynch, Henry, Isaacs, Claudine, A. Ganz, Patricia, Tomlinson, Gail, I. Olopade, Olufunmilayo, J. Couch, Fergus, Wang, Xianshu, M. Lindor, Noralane, S. Pankratz, Vernon, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, DallOlio, Valentina, Peterlongo, Paolo, I. Szabo, Csilla, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, L. Mai, Phuong, H. Greene, Mark, Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, L. Andrulis, Irene, Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernstroem, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Duran, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, B. van der Luijt, Rob, J. van Asperen, Christi, Devilee, Peter, J. Meijers-Heijboer, E., J. Blok, Marinus, M. Aalfs, Cora, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Gareth Evans, D., Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, J. Morrison, Patrick, E. Porteous, Mary, Walker, Lisa, John Kennedy, M., Dorkins, Huw, Peock, Susan, K. Godwin, Andrew, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valerie, Lasset, Christine, Dreyfus, Helene, Leroux, Dominique, Hardouin, Agnes, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frenay, Marc, Venat-Bouvet, Laurence, L. Hopper, John, B. Daly, Mary, B. Terry, Mary, M. John, Esther, S. Buys, Saundra, Yassin, Yosuf, Miron, Alexander, Goldgar, David, F. Singer, Christian, Catharina Dressler, Anne, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, V. O. Hansen, Thomas, Jnson, Lars, A. Agnarsson, Bjarni, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, C. Rodriguez, Gustavo, Wakeley, Katie, F. Boggess, John, Basil, Jack, E. Schwartz, Peter, V. Blank, Stephanie, Ewart Toland, Amanda, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, J. Ramus, Susan, Sucheston, Lara, Y. Karlan, Beth, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schoenbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomaeki, Kristiina, Nevanlinna, Heli, Simard, Jacques, B. Spurdle, Amanda, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, and F. Easton, Douglas

Abstract

The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03–1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01–1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10−11 − 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers. Cancer Res; 70(23); 9742–54. ©2010 AACR.

Published
2010
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