Genome-wide association study in BRCA1 mutation carriers identifies Novel Loci associated with breast and ovarian cancer risk (2024)

Dorfling, Cecilia Maria; Jansen van Rensburg, Elizabeth; Couch, Fergus J.; Wang, Xianshu; McGuffog, Lesley; Lee, Andrew; Olswold, Curtis; Kuchenbaecker, Karoline B.; Soucy, Penny; Fredericksen, Zachary; Barrowdale, Daniel; Dennis, Joe; Gaudet, Mia M.; Dicks, Ed; Kosel, Matthew; Healey, Sue; Sinilnikova, Olga M.; Lee, Adam; Bacot, Francois; Vincent, Daniel; Hogervorst, Frans B.L.; Peock, Susan; Stoppa-Lyonnet, Dominique; Jakubowska, Anna; kConFab Investigators (Kathleen, Cuningham); Radice, Paolo; Schmutzler, Rita Katharina; Domchek, Susan M.; Piedmonte, Marion; Singer, Christian F.; Friedman, Eitan; Thomassen, Mads; Ontario Cancer Genetics Network; Hansen, Thomas V.O.; Neuhausen, Susan L.; Szabo, Csilla I.; Blanco, Ignacio; Greene, Mark H.; Karlan, Beth Y.; Garber, Judy; Phelan, Catherine M.; Weitzel, Jeffrey N.; Montagna, Marco; Olah, Edith; Andrulis, Irene L.; Godwin, Andrew K.; Yannoukakos, Drakoulis; Goldgar, David E.; Caldes, Trinidad; Nevanlinna, Heli; Osorio, Ana; Terry, Mary Beth; Daly, Mary B.; Hamann, Ute; Ramus, Susan J.; Toland, Amanda Ewart; Caligo, Maria A.; Olopade, Olufunmilayo I.; Tung, Nadine; Claes, Kathleen; Beattie, Mary S.; Southey, Melissa C.; Imyanitov, Evgeny N.; Tischkowitz, Marc; Janavicius, Ramunas; John, Esther M.; Kwong, Ava; Diez, Orland; Balmana, Judith; Barkardottir, Rosa B.; Arun, Banu K.; Rennert, Gad; Teo, Soo-Hwang; Ganz, Patricia A.; Campbell, Ian G.; Van der Hout, Annemarie H.; Van Deurzen, Carolien H.M.; Seynaeve, Caroline; Gomez Garcia, Encarna B.; Van Leeuwen, Flora E.; Meijers-Heijboer, Hanne E.J.; Gille, Johannes J.P.; Ausems, Margreet G.E.M.; Blok, Marinus J.; Ligtenberg, Marjolijn J.L.; Rookus, Matti A.; Devilee, Peter; Verhoef, Senno; Van Os, Theo A.M.; Wijnen, Juul T.; Frost, Debra; Ellis, Steve; Fineberg, Elena; Platte, Radka; Evans, D. Gareth; Izatt, Louise; Eeles, Rosalind A.; Adlard, Julian; Eccles, Diana M.; Cook, Jackie; Brewer, Carole; Douglas, Fiona; Hodgson, Shirley; Morrison, Patrick J.; Side, Lucy E.; Donaldson, Alan; Houghton, Catherine; Rogers, Mark T.; Dorkins, Huw; Eason, Jacqueline; Gregory, Helen; McCann, Emma; Calender, Alain; Hardouin, Agnes; Berthet, Pascaline; Delnatte, Capucine; Nogues, Catherine; Lasset, Christine; Houdayer, Claude; Leroux, Dominique; Rouleau, Etienne; Prieur, Fabienne; Damiola, Francesca; Sobol, Hagay; Coupier, Isabelle; Venat-Bouvet, Laurence; Castera, Laurent; Gauthier-Villars, Marion; Leone, Melanie; Pujol, Pascal; Mazoyer, Sylvie; Bignon, Yves-Jean; Złowocka-Perlowska, Elz bieta; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska, Katarzyna; Huzarski, Tomasz; Spurdle, Amanda B.; Viel, Alessandra; Peissel, Bernard; Bonanni, Bernardo; Melloni, Giulia; Ottini, Laura; Papi, Laura; Varesco, Liliana; Tibiletti, Maria Grazia; Peterlongo, Paolo; Volorio, Sara; Manoukian, Siranoush; Pensotti, Valeria; Arnold, Norbert; Engel, Christoph; Deissler, Helmut; Gadzicki, Dorothea; Gehrig, Andrea; Kast, Karin; Rhiem, Kerstin; Meindl, Alfons; Niederacher, Dieter; Ditsch, Nina; Plendl, Hansjoerg; Preisler-Adams, Sabine; Engert, Stefanie; Sutter, Christian; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Weber, Bernhard H.F; Arver, Brita; Stenmark-Askmalm, Marie; Loman, Niklas; Rosenquist, Richard; Einbeigi, Zakaria; Nathanson, Katherine L.; Rebbeck, Timothy R.; Blank, Stephanie V.; Cohn, David E.; Rodriguez, Gustavo C.; Small, Laurie; Friedlander, Michael; Bae-Jump, Victoria L.; Fink-Retter, Anneliese; Rappaport, Christine; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; Tea, Muy-Kheng M.; Lindor, Noralane M.; Kaufman, Bella; Paluch, Shani Shimon; Laitman, Yael; Skytte, Anne-Bine; Gerdes, Anne-Marie; Pedersen, Inge Sokilde; Moeller, Sanne Traasdahl; Kruse, Torben A.; Jensen, Uffe Birk; Vijai, Joseph; Sarrel, Kara; Robson, Mark; Kauff, Noah; Mulligan, Anna Marie; Glendon, Gord; Ozcelik, Hilmi; Ejlertsen, Bent; Nielsen, Finn C.; Jonson, Lars; Andersen, Mette K.; Ding, Yuan Chun; Steele, Linda; Foretova, Lenka; Teule, Alex; Lazaro, Conxi; Brunet, Joan; Pujana, Miquel Angel; Mai, Phuong L.; Loud, Jennifer T.; Walsh, Christine; Lester, Jenny; Orsulic, Sandra; Narod, Steven A.; Herzog, Josef; Sand, Sharon R.; Tognazzo, Silvia; Agata, Simona; Vaszko, Tibor; Weaver, Joellen; Stavropoulou, Alexandra V.; Buys, Saundra S.; Romero, Atocha; De la Hoya, Miguel; Aittomaki, Kristiina; Muranen, Taru A.; Duran, Mercedes; Chung, Wendy K.; Lasa, Adriana; Miron, Alexander; Benitez, Javier; Senter, Leigha; Huo, Dezheng; Chan, Salina B.; Sokolenko, Anna P.; Chiquette, Jocelyne; Tihomirova, Laima; Friebel, Tara M.; Agnarsson, Bjarni A.; Lu, Karen H.; Lejbkowicz, Flavio; James, Paul A.; Hall, Per; Dunning, Alison M.; Tessier, Daniel C.; Cunningham, Julie M.; Slager, Susan L.; Wang, Chen; Hart, Steven; Stevens, Kristen; Simard, Jacques; Pastinen, Tomi; Pankratz, Vernon S.; Offit, Kenneth; Easton, Douglas F.; Georgia, Chenevix-Trench; Antoniou, Antonis C.; GEMO Study Collaborators; SWE-BRCA (Swedish Breast Cancer Study); Ontario Cancer Genetics Network; HEBON (Hereditary Breast and Ovarian Cancer Research Group Netherlands); EMBRACE (Epidemiological Study of Familial Breast Cancer); BCFR (Breast Cancer Family Registry); Murray, Alex; Hunter, Kent W.

Date:2013-03-27

Abstract:

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancerrisk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breastand 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 = 2.761028, HR = 1.14, 95%CI: 1.09–1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.461028,HR = 1.27, 95% CI: 1.17–1.38) and 4q32.3 (rs4691139, P = 3.461028, HR = 1.20, 95% CI: 1.17–1.38). The 4q32.3 locus was notassociated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 261024). These loci may lead to animproved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution ofthe known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1carriers at lowest risk are 28%–50% compared to 81%–100% for the 5% at highest risk. Similarly, based on the knownovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developingovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk mayhave important implications for risk prediction and clinical management for BRCA1 carriers.

Description:

BRCA1 mutation carriers have increased and variable risksof breast and ovarian cancer. To identify modifiers ofbreast and ovarian cancer risk in this population, a multistageGWAS of 14,351 BRCA1 mutation carriers wasperformed. Loci 1q32 and TCF7L2 at 10q25.3 wereassociated with breast cancer risk, and two loci at 4q32.2and 17q21.31 were associated with ovarian cancer risk. The4q32.3 ovarian cancer locus was not associated withovarian cancer risk in the general population or in BRCA2carriers and is the first indication of a BRCA1-specific risklocus for either breast or ovarian cancer. Furthermore,modeling the influence of these modifiers on cumulativerisk of breast and ovarian cancer in BRCA1 mutationcarriers for the first time showed that a wide range ofindividual absolute risks of each cancer can be estimated.These differences suggest that genetic risk modifiers maybe incorporated into the clinical management of BRCA1mutation carriers.

Conceived and designed the experiments: Fergus J Couch, Douglas FEaston, Georgia Chenevix-Trench, Kenneth Offit, Antonis C Antoniou.Performed the experiments: Fergus J Couch, Julie Cunningham, XianshuWang, Curtis Olswold, Matthew Kosel, Adam Lee, Mia M Gaudet,Kenneth Offit, Franc¸ois Bacot, Daniel Vincent, Daniel Tessier. Analyzedthe data: Antonis C Antoniou, Karoline B Kuchenbaecker, LesleyMcGuffog, Daniel Barrowdale, Andrew Lee, Joe Dennis, Ed Dicks,Vernon S Pankratz, Zachary Fredericksen, Curtis Olswold, MatthewKosel. Contributed reagents/materials/analysis tools: Penny Soucy,Kristen Stevens, Jacques Simard, Tomi Pastinen, Sue Healey, Olga MSinilnikova, Andrew Lee. Wrote the manuscript: Fergus J Couch, DouglasF Easton, Antonis C Antoniou. Collected data and samples and providedcritical review of the manuscript: Fergus J Couch, Xianshu Wang, LesleyMcGuffog, Curtis Olswold, Karoline B Kuchenbaecker, Penny Soucy,Zachary Fredericksen, Daniel Barrowdale, Joe Dennis, Mia M Gaudet, EdDicks, Matthew Kosel, Olga M Sinilnikova, Franc¸ois Bacot, DanielVincent, Frans BL Hogervorst, Susan Peock, Dominique Stoppa-Lyonnet,Anna Jakubowska, Paolo Radice, Rita Katharina Schmutzler, Susan MDomchek, Marion Piedmonte, Christian F Singer, Thomas v O Hansen,Susan L Neuhausen, Csilla I Szabo, Ignacio Blanco, Mark H Greene, BethY Karlan, CatherineM Phelan, Jeffrey NWeitzel, Marco Montagna, EdithOlah, Irene L Andrulis, Andrew K Godwin, Drakoulis Yannoukakos,David E Goldgar, Trinidad Caldes, Heli Nevanlinna, Ana Osorio, MaryBeth Terry, Mary B Daly, Elizabeth J van Rensburg, Ute Hamann, SusanJ Ramus, Amanda Ewart Toland, Maria A Caligo, Olufunmilayo IOlopade, Nadine Tung, Kathleen Claes, Mary S Beattie, Melissa CSouthey, Evgeny N Imyanitov, Ramunas Janavicius, Esther M John, AvaKwong, Orland Diez, Rosa B Barkardottir, Banu K Arun, Gad Rennert,Soo-Hwang Teo, Patricia A Ganz, Annemarie H van der Hout, CarolienHM van Deurzen, Encarna B Go´mez Garcia, Flora E van Leeuwen,Hanne EJ Meijers-Heijboer, Johannes JP Gille, Margreet GEM Ausems,Marinus J Blok, Marjolijn JL Ligtenberg, Matti A Rookus, Peter Devilee,Theo AM van Os, Juul T Wijnen, Debra Frost, Radka Platte, D GarethEvans, Louise Izatt, Rosalind A Eeles, Julian Adlard, Diana M Eccles,Carole Brewer, Patrick J Morrison, Lucy E Side, Alan Donaldson, Mark TRogers, Jacqueline Eason, Helen Gregory, Emma McCann, AlainCalender, Agne`s Hardouin, Pascaline Berthet, Capucine Delnatte,Catherine Nogues, Dominique Leroux, Etienne Rouleau, Fabienne Prieur,Hagay Sobol, Laurence Venat-Bouvet, Laurent Castera, Marion Gauthier-Villars, Me´lanie Le´one´, Yves-Jean Bignon, Elz_bieta Złowocka-Perłowska,Katarzyna Durda, Katarzyna Jaworska, Tomasz Huzarski, AlessandraViel, Bernard Peissel, Bernardo Bonanni, Giulia Melloni, Laura Ottini,Laura Papi, Liliana Varesco, Maria Grazia Tibiletti, Valeria Pensotti,Norbert Arnold, Christoph Engel, Dorothea Gadzicki, Andrea Gehrig,Karin Kast, Kerstin Rhiem, Dieter Niederacher, Nina Ditsch, HansjoergPlendl, Sabine Preisler-Adams, Raymonda Varon-Mateeva, BarbaraWappenschmidt, Bernhard H F Weber, Brita Arver, Marie Stenmark-Askmalm, Richard Rosenquist, Zakaria Einbeigi, Katherine L Nathanson,Timothy R Rebbeck, Stephanie V Blank, David E Cohn, Gustavo CRodriguez, Michael Friedlander, Victoria L Bae-Jump, Anneliese Fink-Retter, Christine Rappaport, Daphne Gschwantler Kaulich, Georg Pfeiler,Muy-Kheng Tea, Bella Kaufman, Shani Shimon Paluch, Yael Laitman,Anne-Marie Gerdes, Inge Sokilde Pedersen, Sanne Traasdahl Moeller,Torben A Kruse, Uffe Birk Jensen, Joseph Vijai, Mark Robson, NoahKauff, Anna Marie Mulligan, Gord Glendon, Hilmi Ozcelik, BentEjlertsen, Finn C Nielsen, Lars Jønson, Mette K Andersen, Yuan ChunDing, Lenka Foretova, Alex Teule´, Miquel Angel Pujana, Phuong L Mai,Jennifer T Loud, Sandra Orsulic, Steven A Narod, Josef Herzog, Sharon RSand, Silvia Tognazzo, Simona Agata, Tibor Vaszko, Joellen Weaver,Alexandra V Stavropoulou, Saundra S Buys, Atocha Romero, Miguel de laHoya, Kristiina Aittoma¨ ki, Taru A Muranen, Mercedes Duran, Wendy KChung, Cecilia M Dorfling, Dezheng Huo, Salina B Chan, Anna PSokolenko, Laima Tihomirova, Tara M Friebel, Bjarni A Agnarsson,Karen H Lu, Flavio Lejbkowicz, Paul A James, Per Hall, Alison MDunning, Daniel Tessier, Susan L Slager, Jacques Simard, Tomi Pastinen, Vernon S Pankratz, Kenneth Offit, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Andrew Lee, Adam Lee, Adriana Lasa,Alexander Miron, Caroline Seynaeve, Christian Sutter, Eitan Friedman,Elena Fineberg, Christine Lasset, Amanda B Spurdle, Anne-Bine Skytte,Alfons Meindl, Claude Houdayer, Fiona Douglas Francesca Damiola,Catherine Houghton, Alex Murray, Jan Lubinski, Conxi Lazaro, ChristineWalsh, Chen Wang, Jenny Lester, Huw Dorkins, Helmut Deissler, IanCampbell, Isabelle Coupier, Judith Balman˜a, Joan Brunet, Javier Benitez,Jackie Cook, Jocelyne Chiquette, Judy Garber, Jacek Gronwald, KaraSarrel, Kristen Stevens, Laurie Small, Leigha Senter, Linda Steele, MadsThomassen, Marc Tischkowitz, Niklas Loman, Noralane M Lindor, PascalPujol, Paolo Peterlongo, Steve Ellis, Stefanie Engert, Sue Healey, ShirleyHodgson, Steven Hart, Sylvie Mazoyer, Siranoush, Manoukian, SennoVerhoef, Sara Volorio.

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  • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus 

    Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan; Ramus, Susan J.; Li, Qiyuan; Delgado, Melissa K.; Lee, Janet M.; Aittomaki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K.; Arver, Brita; Bandera, Elisa V.; Barile, Monica; Barkardottir, Rosa B.; Barrowdale, Daniel; Beckmann, Matthias W.; Benitez, Javier; Berchuck, Andrew; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Blot, William; Bogdanova, Natalia; Bojesen, Anders; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Bruinsma, Fiona; Brunet, Joan; Buhari, Shaik Ahmad; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S.; Cai, Qiuyin; Caldes, Trinidad; Canniotto, Rikki; Chang-Claude, Jenny; Chiquette, Jocelyne; Choi, Ji-Yeob; Claes, Kathleen B.M.; GEMO Study Collaborators; Campbell, Ian; Cook, Linda S.; Cox, Angela; Cramer, Daniel W.; Cross, Simon S.; Cybulski, Cezary; Czene, Kamila; Daly, Mary B.; Damiola, Francesca; Dansonka-Mieszkowskaÿÿ, Agnieszka; Darabi, Hatef; Dennis, Joe; Devilee, Peter; Diez, Orland; Doherty, Jennifer A.; Domchek, Susan M.; Dorfling, Cecilia Maria; Dork, Thilo; Dumont, Martine; Ehrencrona, Hans; Ejlertsen, Bent; Ellis, Steve; EMBRACE; Engel, Christoph; Lee, Eunjung; Evans, D. Gareth; Fasching, Peter A.; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foretova, Lenka; Fostira, Florentia; Foulkes, William D.; Fridley, Brooke L.; Friedman, Eitan; Frost, Debra; Gambino, Gaetana; Garber, Judy; Garcıa-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Ghoussaini, Maya; Giles, Graham G.; Glasspool, Rosalind; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Gonzalez-Neira, Anna; Goode, Ellen L.; Goodman, Marc T.; Greene, Mark H.; Gronwald, Jacek; Guenel, Pascal; Haiman, Christopher A.; Hall, Per; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V.O.; Harrington, Patricia A.; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); Heitz, Florian; Herzog, Josef; Hogdall, Estrid; Hogdall, Claus K.; Hogervorst, Frans B.L.; Hollestelle, Antoinette; Hopper, John L.; Hulick, Peter J.; Huzarski, Tomasz; Imyanitov, Evgeny N.; KConFab Investigators; Australian Ovarian Cancer Study Group; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jensen, Allan; John, Esther M.; Johnson, Nichola; Kabisch, Maria; Kang, Daehee; Kapuscinski, Miroslav; Karlan, Beth Y.; Khan, Sofia; Kiemeney, Lambertus A.; Kjaer, Susanne Kruger; Knight, Julia A.; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela; Kupryjanczyk, Jolanta; Kwong, Ava; De la Hoya, Miguel; Laitman, Yael; Lambrechts, Diether; Le, Nhu; De Leeneer, Kim; Lester, Jenny; Levine, Douglas A.; Li, Jingmei; Lindblom, Annika; Long, Jirong; Lophatananon, Artitaya; Loud, Jennifer T.; Lu, Karen; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Le Marchand, Loic; Margolin, Sara; Marme, Frederik; Massuger, Leon F.A.G.; Matsuo, Keitaro; Mazoyer, Sylvie; McGuffog, Lesley; McLean, Catriona; McNeish, Iain; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R.; Milne, Roger L.; Montagna, Marco; Moysich, Kirsten B.; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L.; Ness, Roberta B.; Neuhausen, Susan L.; Nevanlinna, Heli; Nord, Silje; Nussbaum, Robert L.; Odunsi, Kunle; Offit, Kenneth; Olopade, Olufunmilayo I.; Olson, Janet E.; Olswold, Curtis; O’Malley, David; Orlow, Irene; Orr, Nick; Osorio, Ana; Park, Sue Kyung; Pearce, Celeste L.; Pejovic, Tanja; Peterlongo, Paolo; Pfeiler, Georg; Phelan, Catherine M.; Poole, Elizabeth M.; Pylkas, Katri; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad Usman; Rennert, Gad; Rhenius, Valerie; Rhiem, Kerstin; Risch, Harvey A.; Rodriguez, Guz; Rossing, Mary Anne; Rudolph, Anja; Salvesen, Helga B.; Sangrajrang, Suleep*rn; Sawyer, Elinor J.; Schildkraut, Joellen M.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Sellers, Thomas A.; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Sieh, Weiva; Singer, Christian F.; Sinilnikova, Olga M.; Slager, Susan; Song, Honglin; Soucy, Penny; Southey, Melissa C.; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Teo, Soo H.; Terry, Kathryn L.; Terry, Mary Beth; Thomassen, Mads; Tibiletti, Maria Grazia; Tihomirova, Laima; Tognazzo, Silvia; Toland, Amanda Ewart; Tomlinson, Ian; Torres, Diana; Truong, Therese; Tseng, Chiu-chen; Tung, Nadine; Tworoger, Shelley S.; Vachon, Celine; Van den Ouweland, Ans M.W.; Van Doorn, Helena C.; Jansen van Rensburg, Elizabeth; Van’t Veer, Laura J.; Vanderstichele, Adriaan; Vergote, Ignace; Vijai, Joseph; Wang, Qin; Wang-Gohrke, Shan; Weitzel, Jeffrey N.; Wentzensen, Nicolas; Whittemore, Alice S.; Wildiers, Hans; Winqvist, Robert; Wu, Anna H.; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Khanna, Kum Kum; Simard, Jacques; Monteiro, Alvaro N.; French, Juliet D.; Couch, Fergus J.; Freedman, Matthew L.; Easton, Douglas F.; Dunning, Alison M.; Pharoah, Paul D.; Edwards, Stacey L.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Gayther, Simon A. (Nature Publishing Group, 2016-09-07)

    A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here weanalyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutationcarriers and 73,444 controls and identify ...

  • Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants 

    Barnes, Daniel R.; Rookus, Matti A.; McGuffog, Lesley; Leslie, Goska; Mooij, Thea M.; Dennis, Joe; Mavaddat, Nasim; Adlard, Julian; Ahmed, Munaza; Aittomäki, Kristiina; Andrieu, Nadine; Andrulis, Irene L.; Arnold, Norbert; Arun, Banu K.; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Barrowdale, Daniel; Benitez, Javier; Berthet, Pascaline; Białkowska, Katarzyna; Blanco, Amie M.; Blok, Marinus J.; Bonanni, Bernardo; Boonen, Susanne E.; Borg, Ake; Bozsik, Aniko; Bradbury, Angela R.; Brennan, Paul; Brewer, Carole; Brunet, Joan; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Christensen, Lise Lotte; Chung, Wendy K.; Claes, Kathleen B.M.; Colas, Chrystelle; Collonge-Rame, Marie-Agnes; Cook, Jackie; Daly, Mary B.; Davidson, Rosemarie; De la Hoya, Miguel; De Putter, Robin; Delnatte, Capucine; Devilee, Peter; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Dorfling, Cecilia Maria; Ejlertsen, Bent; Engel, Christoph; Evans, D. Gareth; Faivre, Laurence; Foretova, Lenka; Fostira, Florentia; Friedlander, Michael; Friedman, Eitan; Frost, Debra; Ganz, Patricia A.; Garber, Judy; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; González-Neira, Anna; Greene, Mark H.; Gschwantler-Kaulich, Daphne; Hahnen, Eric; Hamann, Ute; Hanson, Helen; Hentschel, Julia; Hogervorst, Frans B.L.; Hooning, Maartje J.; Horvath, Judit; Hu, Chunling; Hulick, Peter J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; John, Esther M.; Joseph, Vijai; Karlan, Beth Y.; Kast, Karin; Koudijs, Marco; Kruse, Torben A.; Kwong, Ava; Laitman, Yael; Lasset, Christine; Lazaro, Conxi; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Loud, Jennifer T.; Lubinski, Jan; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; Mebirouk, Noura; Meijers-Heijboer, Hanne E.J.; Meindl, Alfons; Mensenkamp, Arjen R.; Miller, Austin; Montagna, Marco; Mouret-Fourme, Emmanuelle; Mukherjee, Semanti; Mulligan, Anna Marie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Niederacher, Dieter; Nielsen, Finn Cilius; Nikitina-Zake, Liene; Nogues, Catherine; Olah, Edith; Olopade, Olufunmilayo I.; Ong, Kai-ren; O’Shaughnessy-Kirwan, Aoife; Osorio, Ana; Ott, Claus-Eric; Papi, Laura; Park, Sue K.; Parsons, Michael T.; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Peterlongo, Paolo; Pfeiler, Georg; Phillips, Kelly-Anne; Prajzendanc, Karolina; Pujana, Miquel Angel; Radice, Paolo; Ramser, Juliane; Ramus, Susan J.; Rantala, Johanna; Rennert, Gad; Risch, Harvey A.; Robson, Mark; Ronlund, Karina; Salani, Ritu; Schuster, Helene; Senter, Leigha; Shah, Payal D.; Sharma, Priyanka; Side, Lucy E.; Singer, Christian F.; Slavin, Thomas P.; Soucy, Penny; Southey, Melissa C.; Spurdle, Amanda B.; Steinemann, Doris; Steinsnyder, Zoe; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teo, Soo Hwang; Thull, Darcy L.; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Trainer, Alison H.; Tung, Nadine; Van Engelen, Klaartje; Jansen van Rensburg, Elizabeth; Vega, Ana; Vierstraete, Jeroen; Wagner, Gabriel; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N.; Yadav, Siddhartha; Yang, Xin; Yannoukakos, Drakoulis; Zimbalatti, Dario; Offit, Kenneth; Thomassen, Mads; Couch, Fergus J.; Schmutzler, Rita K.; Simard, Jacques; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C. (Nature Publishing Group, 2020-10)

    PURPOSE : We assessed the associations between population-basedpolygenic risk scores (PRS) for breast (BC) or epithelial ovariancancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenicvariant carriers.METHODS ...

Genome-wide association study in BRCA1 mutation carriers identifies Novel Loci associated with breast and ovarian cancer risk (2024)
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