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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

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

Title:
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(s):
Mulligan, Anna
Couch, Fergus
Barrowdale, Daniel
Domchek, Susan
Eccles, Diana
Nevanlinna, Heli
Ramus, Susan
Robson, Mark
Sherman, Mark
Spurdle, Amanda
Wappenschmidt, Barbara
Lee, Andrew
McGuffog, Lesley
Healey, Sue
Sinilnikova, Olga
Janavicius, Ramunas
Hansen, Thomas
Nielsen, Finn
Ejlertsen, Bent
Osorio, Ana
Muñoz-Repeto, Ivan
Duran, Mercedes
Godino, Javier
Pertesi, Maroulio
Benítez, 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
Wijnen, Juul
Gómez García, Encarna
Nelen, Marcel
Kets, C Marleen
Seynaeve, Caroline
Tilanus-Linthorst, Madeleine
van der Luijt, Rob
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
Side, Lucy
McCann, Emma
Murray, Alex
Peock, Susan
Godwin, Andrew
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
Schäfer, Dieter
Gevensleben, Heidrun
Caux-Moncoutier, Virginie
Fassy-Colcombet, Marion
Cornelis, François
Mazoyer, Sylvie
Léoné, Mélanie
Boutry-Kryza, Nadia
Hardouin, Agnès
Berthet, Pascaline
Muller, Danièle
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
Aittomäki, Kristiina
Blanco, Ignacio
Lazaro, Conxi
Barkardottir, Rosa
Soucy, Penny
Dumont, Martine
Simard, Jacques
Montagna, Marco
Tognazzo, Silvia
D'Andrea, Emma
Fox, Stephen
Yan, Max
Rebbeck, Tim
Olopade, Olufunmilayo
Weitzel, Jeffrey
Lynch, Henry
Ganz, Patricia
Tomlinson, Gail
Wang, Xianshu
Fredericksen, Zachary
Pankratz, Vernon
Lindor, Noralane
Szabo, Csilla
Offit, Kenneth
Sakr, Rita
Gaudet, Mia
Bhatia, Jasmine
Kauff, Noah
Singer, Christian
Tea, Muy-Kheng
Gschwantler-Kaulich, Daphne
Fink-Retter, Anneliese
Mai, Phuong
Greene, Mark
Imyanitov, Evgeny
O'Malley, Frances
Ozcelik, Hilmi
Glendon, Gordon
Toland, Amanda
Gerdes, Anne-Marie
Thomassen, Mads
Kruse, Torben
Jensen, Uffe
Skytte, Anne-Bine
Caligo, Maria
Soller, Maria
Henriksson, Karin
Wachenfeldt, von Anna
Arver, Brita
Stenmark-Askmalm, Marie
Karlsson, Per
Ding, Yuan
Neuhausen, Susan
Beattie, Mary
Pharoah, Paul
Moysich, Kirsten
Nathanson, Katherine
Karlan, Beth
Gross, Jenny
John, Esther
Daly, Mary
Buys, Saundra
Southey, Melissa
Hopper, John
Terry, Mary Beth
Chung, Wendy K.
Miron, Alexander
Goldgar, David
Chenevix-Trench, Georgia
Easton, Douglas
Andrulis, Irene
Antoniou, Antonis
Date:
Type:
Articles
Department(s):
Pediatrics
Epidemiology
Volume:
13
Persistent URL:
Book/Journal Title:
Breast Cancer Research
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. Methods: 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. Results: 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 × 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. Conclusions: 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 tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
Subject(s):
Mutation (Biology)
Breast--Cancer
Genetics
Molecular biology
Publisher DOI:
https://doi.org/10.1186/bcr3052
Item views
82
Metadata:
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Suggested Citation:
Anna Mulligan, Fergus Couch, Daniel Barrowdale, Susan Domchek, Diana Eccles, Heli Nevanlinna, Susan Ramus, Mark Robson, Mark Sherman, Amanda Spurdle, Barbara Wappenschmidt, Andrew Lee, Lesley McGuffog, Sue Healey, Olga Sinilnikova, Ramunas Janavicius, Thomas Hansen, Finn Nielsen, Bent Ejlertsen, Ana Osorio, Ivan Muñoz-Repeto, Mercedes Duran, Javier Godino, Maroulio Pertesi, Javier Benítez, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Elisa Cattaneo, Bernardo Bonanni, Alessandra Viel, Barbara Pasini, Laura Papi, Laura Ottini, Antonella Savarese, Loris Bernard, Paolo Radice, Ute Hamann, Martijn Verheus, Hanne Meijers-Heijboer, Juul Wijnen, Encarna Gómez García, Marcel Nelen, C Marleen Kets, Caroline Seynaeve, Madeleine Tilanus-Linthorst, Rob van der Luijt, Theo Os, Matti Rookus, Debra Frost, J. Louise Jones, D. Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Julian Adlard, Rosemarie Davidson, Jackie Cook, Alan Donaldson, Huw Dorkins, Helen Gregory, Jacqueline Eason, Catherine Houghton, Julian Barwell, Lucy Side, Emma McCann, Alex Murray, Susan Peock, Andrew Godwin, Rita Schmutzler, Kerstin Rhiem, Christoph Engel, Alfons Meindl, Ina Ruehl, Norbert Arnold, Dieter Niederacher, Christian Sutter, Helmut Deissler, Dorothea Gadzicki, Karin Kast, Sabine Preisler-Adams, Raymonda Varon-Mateeva, Ines Schoenbuchner, Britta Fiebig, Wolfram Heinritz, Dieter Schäfer, Heidrun Gevensleben, Virginie Caux-Moncoutier, Marion Fassy-Colcombet, François Cornelis, Sylvie Mazoyer, Mélanie Léoné, Nadia Boutry-Kryza, Agnès Hardouin, Pascaline Berthet, Danièle Muller, Jean-Pierre Fricker, Isabelle Mortemousque, Pascal Pujol, Isabelle Coupier, Marine Lebrun, Caroline Kientz, Michel Longy, Nicolas Sevenet, Dominique Stoppa-Lyonnet, Claudine Isaacs, Trinidad Caldes, Miguel de la Hoya, Tuomas Heikkinen, Kristiina Aittomäki, Ignacio Blanco, Conxi Lazaro, Rosa Barkardottir, Penny Soucy, Martine Dumont, Jacques Simard, Marco Montagna, Silvia Tognazzo, Emma D'Andrea, Stephen Fox, Max Yan, Tim Rebbeck, Olufunmilayo Olopade, Jeffrey Weitzel, Henry Lynch, Patricia Ganz, Gail Tomlinson, Xianshu Wang, Zachary Fredericksen, Vernon Pankratz, Noralane Lindor, Csilla Szabo, Kenneth Offit, Rita Sakr, Mia Gaudet, Jasmine Bhatia, Noah Kauff, Christian Singer, Muy-Kheng Tea, Daphne Gschwantler-Kaulich, Anneliese Fink-Retter, Phuong Mai, Mark Greene, Evgeny Imyanitov, Frances O'Malley, Hilmi Ozcelik, Gordon Glendon, Amanda Toland, Anne-Marie Gerdes, Mads Thomassen, Torben Kruse, Uffe Jensen, Anne-Bine Skytte, Maria Caligo, Maria Soller, Karin Henriksson, von Anna Wachenfeldt, Brita Arver, Marie Stenmark-Askmalm, Per Karlsson, Yuan Ding, Susan Neuhausen, Mary Beattie, Paul Pharoah, Kirsten Moysich, Katherine Nathanson, Beth Karlan, Jenny Gross, Esther John, Mary Daly, Saundra Buys, Melissa Southey, John Hopper, Mary Beth Terry, Wendy K. Chung, Alexander Miron, David Goldgar, Georgia Chenevix-Trench, Douglas Easton, Irene Andrulis, Antonis Antoniou, , 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, Columbia University Academic Commons, .

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