Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a furthe...

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Autores principales:	Fergus J Couch, Xianshu Wang, Lesley McGuffog, Andrew Lee, Curtis Olswold, Karoline B Kuchenbaecker, Penny Soucy, Zachary Fredericksen, Daniel Barrowdale, Joe Dennis, Mia M Gaudet, Ed Dicks, Matthew Kosel, Sue Healey, Olga M Sinilnikova, Adam Lee, François Bacot, Daniel Vincent, Frans B L Hogervorst, Susan Peock, Dominique Stoppa-Lyonnet, Anna Jakubowska, kConFab Investigators, Paolo Radice, Rita Katharina Schmutzler, SWE-BRCA, Susan M Domchek, Marion Piedmonte, Christian F Singer, Eitan Friedman, Mads Thomassen, Ontario Cancer Genetics Network, Thomas V O Hansen, Susan L Neuhausen, Csilla I Szabo, Ignacio Blanco, Mark H Greene, Beth Y Karlan, Judy Garber, Catherine M Phelan, Jeffrey N Weitzel, Marco Montagna, Edith Olah, Irene L Andrulis, Andrew K Godwin, Drakoulis Yannoukakos, David E Goldgar, Trinidad Caldes, Heli Nevanlinna, Ana Osorio, Mary Beth Terry, Mary B Daly, Elizabeth J van Rensburg, Ute Hamann, Susan J Ramus, Amanda Ewart Toland, Maria A Caligo, Olufunmilayo I Olopade, Nadine Tung, Kathleen Claes, Mary S Beattie, Melissa C Southey, Evgeny N Imyanitov, Marc Tischkowitz, Ramunas Janavicius, Esther M John, Ava Kwong, Orland Diez, Judith Balmaña, Rosa B Barkardottir, Banu K Arun, Gad Rennert, Soo-Hwang Teo, Patricia A Ganz, Ian Campbell, Annemarie H van der Hout, Carolien H M van Deurzen, Caroline Seynaeve, Encarna B Gómez Garcia, Flora E van Leeuwen, Hanne E J Meijers-Heijboer, Johannes J P Gille, Margreet G E M Ausems, Marinus J Blok, Marjolijn J L Ligtenberg, Matti A Rookus, Peter Devilee, Senno Verhoef, Theo A M van Os, Juul T Wijnen, HEBON, EMBRACE, Debra Frost, Steve Ellis, Elena Fineberg, Radka Platte, D Gareth Evans, Louise Izatt, Rosalind A Eeles, Julian Adlard, Diana M Eccles, Jackie Cook, Carole Brewer, Fiona Douglas, Shirley Hodgson, Patrick J Morrison, Lucy E Side, Alan Donaldson, Catherine Houghton, Mark T Rogers, Huw Dorkins, Jacqueline Eason, Helen Gregory, Emma McCann, Alex Murray, Alain Calender, Agnès Hardouin, Pascaline Berthet, Capucine Delnatte, Catherine Nogues, Christine Lasset, Claude Houdayer, Dominique Leroux, Etienne Rouleau, Fabienne Prieur, Francesca Damiola, Hagay Sobol, Isabelle Coupier, Laurence Venat-Bouvet, Laurent Castera, Marion Gauthier-Villars, Mélanie Léoné, Pascal Pujol, Sylvie Mazoyer, Yves-Jean Bignon, GEMO Study Collaborators, Elżbieta Złowocka-Perłowska, Jacek Gronwald, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska, Tomasz Huzarski, Amanda B Spurdle, Alessandra Viel, Bernard Peissel, Bernardo Bonanni, Giulia Melloni, Laura Ottini, Laura Papi, Liliana Varesco, Maria Grazia Tibiletti, Paolo Peterlongo, Sara Volorio, Siranoush Manoukian, Valeria Pensotti, Norbert Arnold, Christoph Engel, Helmut Deissler, Dorothea Gadzicki, Andrea Gehrig, Karin Kast, Kerstin Rhiem, Alfons Meindl, Dieter Niederacher, Nina Ditsch, Hansjoerg Plendl, Sabine Preisler-Adams, Stefanie Engert, Christian Sutter, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Bernhard H F Weber, Brita Arver, Marie Stenmark-Askmalm, Niklas Loman, Richard Rosenquist, Zakaria Einbeigi, Katherine L Nathanson, Timothy R Rebbeck, Stephanie V Blank, David E Cohn, Gustavo C Rodriguez, Laurie Small, Michael Friedlander, Victoria L Bae-Jump, Anneliese Fink-Retter, Christine Rappaport, Daphne Gschwantler-Kaulich, Georg Pfeiler, Muy-Kheng Tea, Noralane M Lindor, Bella Kaufman, Shani Shimon Paluch, Yael Laitman, Anne-Bine Skytte, Anne-Marie Gerdes, Inge Sokilde Pedersen, Sanne Traasdahl Moeller, Torben A Kruse, Uffe Birk Jensen, Joseph Vijai, Kara Sarrel, Mark Robson, Noah Kauff, Anna Marie Mulligan, Gord Glendon, Hilmi Ozcelik, Bent Ejlertsen, Finn C Nielsen, Lars Jønson, Mette K Andersen, Yuan Chun Ding, Linda Steele, Lenka Foretova, Alex Teulé, Conxi Lazaro, Joan Brunet, Miquel Angel Pujana, Phuong L Mai, Jennifer T Loud, Christine Walsh, Jenny Lester, Sandra Orsulic, Steven A Narod, Josef Herzog, Sharon R Sand, Silvia Tognazzo, Simona Agata, Tibor Vaszko, Joellen Weaver, Alexandra V Stavropoulou, Saundra S Buys, Atocha Romero, Miguel de la Hoya, Kristiina Aittomäki, Taru A Muranen, Mercedes Duran, Wendy K Chung, Adriana Lasa, Cecilia M Dorfling, Alexander Miron, BCFR, Javier Benitez, Leigha Senter, Dezheng Huo, Salina B Chan, Anna P Sokolenko, Jocelyne Chiquette, Laima Tihomirova, Tara M Friebel, Bjarni A Agnarsson, Karen H Lu, Flavio Lejbkowicz, Paul A James, Per Hall, Alison M Dunning, Daniel Tessier, Julie Cunningham, Susan L Slager, Chen Wang, Steven Hart, Kristen Stevens, Jacques Simard, Tomi Pastinen, Vernon S Pankratz, Kenneth Offit, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, CIMBA
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Genetics QH426-470
Acceso en línea:	https://doaj.org/article/562fabff17504ed5b986d8b1fddd37b7
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id	oai:doaj.org-article:562fabff17504ed5b986d8b1fddd37b7
record_format	dspace
institution	DOAJ
collection	DOAJ
language	EN
topic	Genetics QH426-470
spellingShingle	Genetics QH426-470 Fergus J Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold Karoline B Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M Sinilnikova Adam Lee François Bacot Daniel Vincent Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Anna Jakubowska kConFab Investigators Paolo Radice Rita Katharina Schmutzler SWE-BRCA Susan M Domchek Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Ontario Cancer Genetics Network Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Mark H Greene Beth Y Karlan Judy Garber Catherine M Phelan Jeffrey N Weitzel Marco Montagna Edith Olah Irene L Andrulis Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Heli Nevanlinna Ana Osorio Mary Beth Terry Mary B Daly Elizabeth J van Rensburg Ute Hamann Susan J Ramus Amanda Ewart Toland Maria A Caligo Olufunmilayo I Olopade Nadine Tung Kathleen Claes Mary S Beattie Melissa C Southey Evgeny N Imyanitov Marc Tischkowitz Ramunas Janavicius Esther M John Ava Kwong Orland Diez Judith Balmaña Rosa B Barkardottir Banu K Arun Gad Rennert Soo-Hwang Teo Patricia A Ganz Ian Campbell Annemarie H van der Hout Carolien H M van Deurzen Caroline Seynaeve Encarna B Gómez Garcia Flora E van Leeuwen Hanne E J Meijers-Heijboer Johannes J P Gille Margreet G E M Ausems Marinus J Blok Marjolijn J L Ligtenberg Matti A Rookus Peter Devilee Senno Verhoef Theo A M van Os Juul T Wijnen HEBON EMBRACE Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Louise Izatt Rosalind A Eeles Julian Adlard Diana M Eccles Jackie Cook Carole Brewer Fiona Douglas Shirley Hodgson Patrick J Morrison Lucy E Side Alan Donaldson Catherine Houghton Mark T Rogers Huw Dorkins Jacqueline Eason Helen Gregory Emma McCann Alex Murray Alain Calender Agnès Hardouin Pascaline Berthet Capucine Delnatte Catherine Nogues Christine Lasset Claude Houdayer Dominique Leroux Etienne Rouleau Fabienne Prieur Francesca Damiola Hagay Sobol Isabelle Coupier Laurence Venat-Bouvet Laurent Castera Marion Gauthier-Villars Mélanie Léoné Pascal Pujol Sylvie Mazoyer Yves-Jean Bignon GEMO Study Collaborators Elżbieta Złowocka-Perłowska Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska Tomasz Huzarski Amanda B Spurdle Alessandra Viel Bernard Peissel Bernardo Bonanni Giulia Melloni Laura Ottini Laura Papi Liliana Varesco Maria Grazia Tibiletti Paolo Peterlongo Sara Volorio Siranoush Manoukian Valeria Pensotti Norbert Arnold Christoph Engel Helmut Deissler Dorothea Gadzicki Andrea Gehrig Karin Kast Kerstin Rhiem Alfons Meindl Dieter Niederacher Nina Ditsch Hansjoerg Plendl Sabine Preisler-Adams Stefanie Engert Christian Sutter Raymonda Varon-Mateeva Barbara Wappenschmidt Bernhard H F Weber Brita Arver Marie Stenmark-Askmalm Niklas Loman Richard Rosenquist Zakaria Einbeigi Katherine L Nathanson Timothy R Rebbeck Stephanie V Blank David E Cohn Gustavo C Rodriguez Laurie Small Michael Friedlander Victoria L Bae-Jump Anneliese Fink-Retter Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Noralane M Lindor Bella Kaufman Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Anne-Marie Gerdes Inge Sokilde Pedersen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Joseph Vijai Kara Sarrel Mark Robson Noah Kauff Anna Marie Mulligan Gord Glendon Hilmi Ozcelik Bent Ejlertsen Finn C Nielsen Lars Jønson Mette K Andersen Yuan Chun Ding Linda Steele Lenka Foretova Alex Teulé Conxi Lazaro Joan Brunet Miquel Angel Pujana Phuong L Mai Jennifer T Loud Christine Walsh Jenny Lester Sandra Orsulic Steven A Narod Josef Herzog Sharon R Sand Silvia Tognazzo Simona Agata Tibor Vaszko Joellen Weaver Alexandra V Stavropoulou Saundra S Buys Atocha Romero Miguel de la Hoya Kristiina Aittomäki Taru A Muranen Mercedes Duran Wendy K Chung Adriana Lasa Cecilia M Dorfling Alexander Miron BCFR Javier Benitez Leigha Senter Dezheng Huo Salina B Chan Anna P Sokolenko Jocelyne Chiquette Laima Tihomirova Tara M Friebel Bjarni A Agnarsson Karen H Lu Flavio Lejbkowicz Paul A James Per Hall Alison M Dunning Daniel Tessier Julie Cunningham Susan L Slager Chen Wang Steven Hart Kristen Stevens Jacques Simard Tomi Pastinen Vernon S Pankratz Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou CIMBA Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
description	BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 × 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.
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author	Fergus J Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold Karoline B Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M Sinilnikova Adam Lee François Bacot Daniel Vincent Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Anna Jakubowska kConFab Investigators Paolo Radice Rita Katharina Schmutzler SWE-BRCA Susan M Domchek Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Ontario Cancer Genetics Network Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Mark H Greene Beth Y Karlan Judy Garber Catherine M Phelan Jeffrey N Weitzel Marco Montagna Edith Olah Irene L Andrulis Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Heli Nevanlinna Ana Osorio Mary Beth Terry Mary B Daly Elizabeth J van Rensburg Ute Hamann Susan J Ramus Amanda Ewart Toland Maria A Caligo Olufunmilayo I Olopade Nadine Tung Kathleen Claes Mary S Beattie Melissa C Southey Evgeny N Imyanitov Marc Tischkowitz Ramunas Janavicius Esther M John Ava Kwong Orland Diez Judith Balmaña Rosa B Barkardottir Banu K Arun Gad Rennert Soo-Hwang Teo Patricia A Ganz Ian Campbell Annemarie H van der Hout Carolien H M van Deurzen Caroline Seynaeve Encarna B Gómez Garcia Flora E van Leeuwen Hanne E J Meijers-Heijboer Johannes J P Gille Margreet G E M Ausems Marinus J Blok Marjolijn J L Ligtenberg Matti A Rookus Peter Devilee Senno Verhoef Theo A M van Os Juul T Wijnen HEBON EMBRACE Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Louise Izatt Rosalind A Eeles Julian Adlard Diana M Eccles Jackie Cook Carole Brewer Fiona Douglas Shirley Hodgson Patrick J Morrison Lucy E Side Alan Donaldson Catherine Houghton Mark T Rogers Huw Dorkins Jacqueline Eason Helen Gregory Emma McCann Alex Murray Alain Calender Agnès Hardouin Pascaline Berthet Capucine Delnatte Catherine Nogues Christine Lasset Claude Houdayer Dominique Leroux Etienne Rouleau Fabienne Prieur Francesca Damiola Hagay Sobol Isabelle Coupier Laurence Venat-Bouvet Laurent Castera Marion Gauthier-Villars Mélanie Léoné Pascal Pujol Sylvie Mazoyer Yves-Jean Bignon GEMO Study Collaborators Elżbieta Złowocka-Perłowska Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska Tomasz Huzarski Amanda B Spurdle Alessandra Viel Bernard Peissel Bernardo Bonanni Giulia Melloni Laura Ottini Laura Papi Liliana Varesco Maria Grazia Tibiletti Paolo Peterlongo Sara Volorio Siranoush Manoukian Valeria Pensotti Norbert Arnold Christoph Engel Helmut Deissler Dorothea Gadzicki Andrea Gehrig Karin Kast Kerstin Rhiem Alfons Meindl Dieter Niederacher Nina Ditsch Hansjoerg Plendl Sabine Preisler-Adams Stefanie Engert Christian Sutter Raymonda Varon-Mateeva Barbara Wappenschmidt Bernhard H F Weber Brita Arver Marie Stenmark-Askmalm Niklas Loman Richard Rosenquist Zakaria Einbeigi Katherine L Nathanson Timothy R Rebbeck Stephanie V Blank David E Cohn Gustavo C Rodriguez Laurie Small Michael Friedlander Victoria L Bae-Jump Anneliese Fink-Retter Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Noralane M Lindor Bella Kaufman Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Anne-Marie Gerdes Inge Sokilde Pedersen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Joseph Vijai Kara Sarrel Mark Robson Noah Kauff Anna Marie Mulligan Gord Glendon Hilmi Ozcelik Bent Ejlertsen Finn C Nielsen Lars Jønson Mette K Andersen Yuan Chun Ding Linda Steele Lenka Foretova Alex Teulé Conxi Lazaro Joan Brunet Miquel Angel Pujana Phuong L Mai Jennifer T Loud Christine Walsh Jenny Lester Sandra Orsulic Steven A Narod Josef Herzog Sharon R Sand Silvia Tognazzo Simona Agata Tibor Vaszko Joellen Weaver Alexandra V Stavropoulou Saundra S Buys Atocha Romero Miguel de la Hoya Kristiina Aittomäki Taru A Muranen Mercedes Duran Wendy K Chung Adriana Lasa Cecilia M Dorfling Alexander Miron BCFR Javier Benitez Leigha Senter Dezheng Huo Salina B Chan Anna P Sokolenko Jocelyne Chiquette Laima Tihomirova Tara M Friebel Bjarni A Agnarsson Karen H Lu Flavio Lejbkowicz Paul A James Per Hall Alison M Dunning Daniel Tessier Julie Cunningham Susan L Slager Chen Wang Steven Hart Kristen Stevens Jacques Simard Tomi Pastinen Vernon S Pankratz Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou CIMBA
author_facet	Fergus J Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold Karoline B Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M Sinilnikova Adam Lee François Bacot Daniel Vincent Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Anna Jakubowska kConFab Investigators Paolo Radice Rita Katharina Schmutzler SWE-BRCA Susan M Domchek Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Ontario Cancer Genetics Network Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Mark H Greene Beth Y Karlan Judy Garber Catherine M Phelan Jeffrey N Weitzel Marco Montagna Edith Olah Irene L Andrulis Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Heli Nevanlinna Ana Osorio Mary Beth Terry Mary B Daly Elizabeth J van Rensburg Ute Hamann Susan J Ramus Amanda Ewart Toland Maria A Caligo Olufunmilayo I Olopade Nadine Tung Kathleen Claes Mary S Beattie Melissa C Southey Evgeny N Imyanitov Marc Tischkowitz Ramunas Janavicius Esther M John Ava Kwong Orland Diez Judith Balmaña Rosa B Barkardottir Banu K Arun Gad Rennert Soo-Hwang Teo Patricia A Ganz Ian Campbell Annemarie H van der Hout Carolien H M van Deurzen Caroline Seynaeve Encarna B Gómez Garcia Flora E van Leeuwen Hanne E J Meijers-Heijboer Johannes J P Gille Margreet G E M Ausems Marinus J Blok Marjolijn J L Ligtenberg Matti A Rookus Peter Devilee Senno Verhoef Theo A M van Os Juul T Wijnen HEBON EMBRACE Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Louise Izatt Rosalind A Eeles Julian Adlard Diana M Eccles Jackie Cook Carole Brewer Fiona Douglas Shirley Hodgson Patrick J Morrison Lucy E Side Alan Donaldson Catherine Houghton Mark T Rogers Huw Dorkins Jacqueline Eason Helen Gregory Emma McCann Alex Murray Alain Calender Agnès Hardouin Pascaline Berthet Capucine Delnatte Catherine Nogues Christine Lasset Claude Houdayer Dominique Leroux Etienne Rouleau Fabienne Prieur Francesca Damiola Hagay Sobol Isabelle Coupier Laurence Venat-Bouvet Laurent Castera Marion Gauthier-Villars Mélanie Léoné Pascal Pujol Sylvie Mazoyer Yves-Jean Bignon GEMO Study Collaborators Elżbieta Złowocka-Perłowska Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska Tomasz Huzarski Amanda B Spurdle Alessandra Viel Bernard Peissel Bernardo Bonanni Giulia Melloni Laura Ottini Laura Papi Liliana Varesco Maria Grazia Tibiletti Paolo Peterlongo Sara Volorio Siranoush Manoukian Valeria Pensotti Norbert Arnold Christoph Engel Helmut Deissler Dorothea Gadzicki Andrea Gehrig Karin Kast Kerstin Rhiem Alfons Meindl Dieter Niederacher Nina Ditsch Hansjoerg Plendl Sabine Preisler-Adams Stefanie Engert Christian Sutter Raymonda Varon-Mateeva Barbara Wappenschmidt Bernhard H F Weber Brita Arver Marie Stenmark-Askmalm Niklas Loman Richard Rosenquist Zakaria Einbeigi Katherine L Nathanson Timothy R Rebbeck Stephanie V Blank David E Cohn Gustavo C Rodriguez Laurie Small Michael Friedlander Victoria L Bae-Jump Anneliese Fink-Retter Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Noralane M Lindor Bella Kaufman Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Anne-Marie Gerdes Inge Sokilde Pedersen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Joseph Vijai Kara Sarrel Mark Robson Noah Kauff Anna Marie Mulligan Gord Glendon Hilmi Ozcelik Bent Ejlertsen Finn C Nielsen Lars Jønson Mette K Andersen Yuan Chun Ding Linda Steele Lenka Foretova Alex Teulé Conxi Lazaro Joan Brunet Miquel Angel Pujana Phuong L Mai Jennifer T Loud Christine Walsh Jenny Lester Sandra Orsulic Steven A Narod Josef Herzog Sharon R Sand Silvia Tognazzo Simona Agata Tibor Vaszko Joellen Weaver Alexandra V Stavropoulou Saundra S Buys Atocha Romero Miguel de la Hoya Kristiina Aittomäki Taru A Muranen Mercedes Duran Wendy K Chung Adriana Lasa Cecilia M Dorfling Alexander Miron BCFR Javier Benitez Leigha Senter Dezheng Huo Salina B Chan Anna P Sokolenko Jocelyne Chiquette Laima Tihomirova Tara M Friebel Bjarni A Agnarsson Karen H Lu Flavio Lejbkowicz Paul A James Per Hall Alison M Dunning Daniel Tessier Julie Cunningham Susan L Slager Chen Wang Steven Hart Kristen Stevens Jacques Simard Tomi Pastinen Vernon S Pankratz Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou CIMBA
author_sort	Fergus J Couch
title	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
title_short	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
title_full	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
title_fullStr	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
title_full_unstemmed	Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
title_sort	genome-wide association study in brca1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/562fabff17504ed5b986d8b1fddd37b7
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josefherzog genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT sharonrsand genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT silviatognazzo genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT simonaagata genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT tiborvaszko genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT joellenweaver genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT alexandravstavropoulou genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT saundrasbuys 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ceciliamdorfling genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT alexandermiron genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT bcfr genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT javierbenitez genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT leighasenter genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT dezhenghuo genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT salinabchan genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT annapsokolenko genomewideassociationstudyinbrca1mutationcarriersidentifiesnovellociassociatedwithbreastandovariancancerrisk AT 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spelling	oai:doaj.org-article:562fabff17504ed5b986d8b1fddd37b72021-11-18T06:19:52ZGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.1553-73901553-740410.1371/journal.pgen.1003212https://doaj.org/article/562fabff17504ed5b986d8b1fddd37b72013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23544013/?tool=EBIhttps://doaj.org/toc/1553-7390https://doaj.org/toc/1553-7404BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 × 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.Fergus J CouchXianshu WangLesley McGuffogAndrew LeeCurtis OlswoldKaroline B KuchenbaeckerPenny SoucyZachary FredericksenDaniel BarrowdaleJoe DennisMia M GaudetEd DicksMatthew KoselSue HealeyOlga M SinilnikovaAdam LeeFrançois BacotDaniel VincentFrans B L HogervorstSusan PeockDominique Stoppa-LyonnetAnna JakubowskakConFab InvestigatorsPaolo RadiceRita Katharina SchmutzlerSWE-BRCASusan M DomchekMarion PiedmonteChristian F SingerEitan FriedmanMads ThomassenOntario Cancer Genetics NetworkThomas V O HansenSusan L NeuhausenCsilla I SzaboIgnacio BlancoMark H GreeneBeth Y KarlanJudy GarberCatherine M PhelanJeffrey N WeitzelMarco MontagnaEdith OlahIrene L AndrulisAndrew K GodwinDrakoulis YannoukakosDavid E GoldgarTrinidad CaldesHeli NevanlinnaAna OsorioMary Beth TerryMary B DalyElizabeth J van RensburgUte HamannSusan J RamusAmanda Ewart TolandMaria A CaligoOlufunmilayo I OlopadeNadine TungKathleen ClaesMary S BeattieMelissa C SoutheyEvgeny N ImyanitovMarc TischkowitzRamunas JanaviciusEsther M JohnAva KwongOrland DiezJudith BalmañaRosa B BarkardottirBanu K ArunGad RennertSoo-Hwang TeoPatricia A GanzIan CampbellAnnemarie H van der HoutCarolien H M van DeurzenCaroline SeynaeveEncarna B Gómez GarciaFlora E van LeeuwenHanne E J Meijers-HeijboerJohannes J P GilleMargreet G E M AusemsMarinus J BlokMarjolijn J L LigtenbergMatti A RookusPeter DevileeSenno VerhoefTheo A M van OsJuul T WijnenHEBONEMBRACEDebra FrostSteve EllisElena FinebergRadka PlatteD Gareth EvansLouise IzattRosalind A EelesJulian AdlardDiana M EcclesJackie CookCarole BrewerFiona DouglasShirley HodgsonPatrick J MorrisonLucy E SideAlan DonaldsonCatherine HoughtonMark T RogersHuw DorkinsJacqueline EasonHelen GregoryEmma McCannAlex MurrayAlain CalenderAgnès HardouinPascaline BerthetCapucine DelnatteCatherine NoguesChristine LassetClaude HoudayerDominique LerouxEtienne RouleauFabienne PrieurFrancesca DamiolaHagay SobolIsabelle CoupierLaurence Venat-BouvetLaurent CasteraMarion Gauthier-VillarsMélanie LéonéPascal PujolSylvie MazoyerYves-Jean BignonGEMO Study CollaboratorsElżbieta Złowocka-PerłowskaJacek GronwaldJan LubinskiKatarzyna DurdaKatarzyna JaworskaTomasz HuzarskiAmanda B SpurdleAlessandra VielBernard PeisselBernardo BonanniGiulia MelloniLaura OttiniLaura PapiLiliana VarescoMaria Grazia TibilettiPaolo PeterlongoSara VolorioSiranoush ManoukianValeria PensottiNorbert ArnoldChristoph EngelHelmut DeisslerDorothea GadzickiAndrea GehrigKarin KastKerstin RhiemAlfons MeindlDieter NiederacherNina DitschHansjoerg PlendlSabine Preisler-AdamsStefanie EngertChristian SutterRaymonda Varon-MateevaBarbara WappenschmidtBernhard H F WeberBrita ArverMarie Stenmark-AskmalmNiklas LomanRichard RosenquistZakaria EinbeigiKatherine L NathansonTimothy R RebbeckStephanie V BlankDavid E CohnGustavo C RodriguezLaurie SmallMichael FriedlanderVictoria L Bae-JumpAnneliese Fink-RetterChristine RappaportDaphne Gschwantler-KaulichGeorg PfeilerMuy-Kheng TeaNoralane M LindorBella KaufmanShani Shimon PaluchYael LaitmanAnne-Bine SkytteAnne-Marie GerdesInge Sokilde PedersenSanne Traasdahl MoellerTorben A KruseUffe Birk JensenJoseph VijaiKara SarrelMark RobsonNoah KauffAnna Marie MulliganGord GlendonHilmi OzcelikBent EjlertsenFinn C NielsenLars JønsonMette K AndersenYuan Chun DingLinda SteeleLenka ForetovaAlex TeuléConxi LazaroJoan BrunetMiquel Angel PujanaPhuong L MaiJennifer T LoudChristine WalshJenny LesterSandra OrsulicSteven A NarodJosef HerzogSharon R SandSilvia TognazzoSimona AgataTibor VaszkoJoellen WeaverAlexandra V StavropoulouSaundra S BuysAtocha RomeroMiguel de la HoyaKristiina AittomäkiTaru A MuranenMercedes DuranWendy K ChungAdriana LasaCecilia M DorflingAlexander MironBCFRJavier BenitezLeigha SenterDezheng HuoSalina B ChanAnna P SokolenkoJocelyne ChiquetteLaima TihomirovaTara M FriebelBjarni A AgnarssonKaren H LuFlavio LejbkowiczPaul A JamesPer HallAlison M DunningDaniel TessierJulie CunninghamSusan L SlagerChen WangSteven HartKristen StevensJacques SimardTomi PastinenVernon S PankratzKenneth OffitDouglas F EastonGeorgia Chenevix-TrenchAntonis C AntoniouCIMBAPublic Library of Science (PLoS)articleGeneticsQH426-470ENPLoS Genetics, Vol 9, Iss 3, p e1003212 (2013)

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

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