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2. Exploring the link between MORF4L1 and risk of breast cancer
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Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, Angel Pujana, Miguel, Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Küehl, Julia, Neveling, Kornelia, Schindler, Detlev, J. Ramirez, Maria, Castella, Maria, Hernandez, Gonzalo, F. Easton, Douglas, Peock, Susan, Cook, Margaret, T. Oliver, Clare, Frost, Debra, Platte, Radka, Gareth Evans, D., Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, J. Morrison, Patrick, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Laura Putignano, Anna, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, A. Rookus, Matti, Verhoef, Senno, A. Tilanus-Linthorst, Madeleine, P. Vreeswijk, Maaike, J. Asperen, Christi, Bodmer, Danielle, G. E. M. Ausems, Margreet, A. van Os, Theo, J. Blok, Marinus, E. J. Meijers-Heijboer, Hanne, B. L. Hogervorst, Frans, E. Goldgar, David, Buys, Saundra, M. John, Esther, Miron, Alexander, Southey, Melissa, B. Daly, Mary, Harbst, Katja, Borg, Ake, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, M. Domchek, Susan, L. Nathanson, Katherine, R. Rebbeck, Timothy, Thor Johannsson, Oskar, J. Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, K. Pientka, Friederike, Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Adelaide Caligo, Maria, K. Godwin, Andrew, N. Imyanitov, Evgeny, Janavicius, Ramunas, M. Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, M. Pereira-Smith, Olivia, C. Antoniou, Antonis, Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, and Angel Pujana, Miguel
- Abstract
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P(trend) = 0.45 and 0.05, P(2df) = 0.51 and 0.14, respectively; and rs10519219, P(trend) =
- Published
- 2011
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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
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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
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- 2011
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4. Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers
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Ramus, Susan J, Kartsonaki, Christiana, A Gayther, Simon, D P Pharoah, Paul, M Sinilnikova, Olga, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, J Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, H Greene, Mark, L Mai, Phuong, L Andrulis, Irene, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, A Kruse, Torben, Cruger, Dorthe, Birk Jensen, Uffe, Adelaide Caligo, Maria, Olsson, Hakan, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, L Neuhausen, Susan, Chun Ding, Yuan, L Nathanson, Katherine, M Domchek, Susan, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Gorski, Bohdan, Cybulski, Cezary, Debniak, Tadeusz, Osorio, Ana, Tejada, Maria-Isabel, Benitez, Javier, Hamann, Ute, A Rookus, Matti, Verhoef, Senno, A Tilanus-Linthorst, Madeleine, P Vreeswijk, Maaike, Bodmer, Danielle, G E M Ausems, Margreet, A van Os, Theo, J Asperen, Christi, J Blok, Marinus, E J Meijers-Heijboer, Hanne, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, M Dunning, Alison, Gareth Evans, D, Eeles, Ros, Cole, Trevor, Hodgson, Shirley, J Morrison, Patrick, Porteous, Mary, John Kennedy, M, T Rogers, Mark, E Side, Lucy, Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Bonadona, Valerie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnes, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, S Buys, Saundra, L Hopper, John, B Daly, Mary, M John, Esther, Beth Terry, Mary, Goldgar, David, V O Hansen, Thomas, Jonson, Lars, Ejlertsen, Bent, A Agnarsson, Bjarni, Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, V C Dutra-Clarke, Ana, A Przybylo, Jennifer, Montagna, Marco, Casella, Cinzia, N Imyanitov, Evgeny, Janavicius, Ramunas, Blanco, Ignacio, Lazaro, Conxi, B Moysich, Kirsten, Y Karlan, Beth, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, Nevanlinna, Heli, Aittomaeki, Kristiina, Simard, Jacques, Soucy, Penny, B Spurdle, Amanda, Holland, Helene, Chenevix-Trench, Georgia, F Easton, Douglas, C Antoniou, Antonis, Ramus, Susan J, Kartsonaki, Christiana, A Gayther, Simon, D P Pharoah, Paul, M Sinilnikova, Olga, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, J Couch, Fergus, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, H Greene, Mark, L Mai, Phuong, L Andrulis, Irene, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, A Kruse, Torben, Cruger, Dorthe, Birk Jensen, Uffe, Adelaide Caligo, Maria, Olsson, Hakan, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, L Neuhausen, Susan, Chun Ding, Yuan, L Nathanson, Katherine, M Domchek, Susan, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Gorski, Bohdan, Cybulski, Cezary, Debniak, Tadeusz, Osorio, Ana, Tejada, Maria-Isabel, Benitez, Javier, Hamann, Ute, A Rookus, Matti, Verhoef, Senno, A Tilanus-Linthorst, Madeleine, P Vreeswijk, Maaike, Bodmer, Danielle, G E M Ausems, Margreet, A van Os, Theo, J Asperen, Christi, J Blok, Marinus, E J Meijers-Heijboer, Hanne, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, M Dunning, Alison, Gareth Evans, D, Eeles, Ros, Cole, Trevor, Hodgson, Shirley, J Morrison, Patrick, Porteous, Mary, John Kennedy, M, T Rogers, Mark, E Side, Lucy, Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Bonadona, Valerie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnes, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, S Buys, Saundra, L Hopper, John, B Daly, Mary, M John, Esther, Beth Terry, Mary, Goldgar, David, V O Hansen, Thomas, Jonson, Lars, Ejlertsen, Bent, A Agnarsson, Bjarni, Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, V C Dutra-Clarke, Ana, A Przybylo, Jennifer, Montagna, Marco, Casella, Cinzia, N Imyanitov, Evgeny, Janavicius, Ramunas, Blanco, Ignacio, Lazaro, Conxi, B Moysich, Kirsten, Y Karlan, Beth, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, Nevanlinna, Heli, Aittomaeki, Kristiina, Simard, Jacques, Soucy, Penny, B Spurdle, Amanda, Holland, Helene, Chenevix-Trench, Georgia, F Easton, Douglas, and C Antoniou, Antonis
- Abstract
Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2. Methods We genotyped rs3814113 in 10 029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided. Results The minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 x 10(-9)) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 x 10(-4)). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%. Conclusion Common genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation.
- Published
- 2011
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5. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers : Implications for Risk Prediction
- Author
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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
- Full Text
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