دورية أكاديمية
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
| العنوان: | Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. |
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| المؤلفون: | 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, Simard, Jacques, Pastinen, Tomi, Pankratz, Vernon S, Offit, Kenneth, Easton, Douglas F, Singer, Christian F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Friedman, Eitan, McCann, Emma, Gschwantler-Kaulich, Daphne, Thomassen, Mads, 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, Pfeiler, Georg, Murray, Alex, Montagna, Marco, Olah, Edith, Andrulis, Irene L, Godwin, Andrew K, Yannoukakos, Drakoulis, Goldgar, David E, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, Tea, Muy-Kheng, Terry, Mary Beth, Dicks, Ed, Daly, Mary B, van Rensburg, Elizabeth J, Hamann, Ute, Ramus, Susan J, Toland, Amanda Ewart, Caligo, Maria A, Olopade, Olufunmilayo I, Tung, Nadine, Lindor, Noralane M, Claes, Kathleen, Beattie, Mary S, Calender, Alain, Southey, Melissa C, Imyanitov, Evgeny N, Tischkowitz, Marc, Janavicius, Ramunas, John, Esther M, Kwong, Ava, Diez, Orland, Kaufman, Bella, Balmaña, Judith, Barkardottir, Rosa B, Arun, Banu K, Hardouin, Agnès, Rennert, Gad, Teo, Soo-Hwang, Ganz, Patricia A, Campbell, Ian, van der Hout, Annemarie H, van Deurzen, Carolien H M, Shimon Paluch, Shani, Seynaeve, Caroline, Gómez Garcia, Encarna B, van Leeuwen, Flora E, Meijers-Heijboer, Hanne E J, Berthet, Pascaline, Gille, Johannes J P, Ausems, Margreet G E M, Blok, Marinus J, Ligtenberg, Marjolijn J L, Rookus, Matti A, Laitman, Yael, Devilee, Peter, Verhoef, Senno, van Os, Theo A M, Wijnen, Juul T, Frost, Debra, Delnatte, Capucine, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D Gareth, Skytte, Anne-Bine, Izatt, Louise, Eeles, Rosalind A, Adlard, Julian, Eccles, Diana M, Cook, Jackie, Brewer, Carole, Nogues, Catherine, Douglas, Fiona, Hodgson, Shirley, Lasset, Christine, Gerdes, Anne-Marie, Houdayer, Claude, Leroux, Dominique, Rouleau, Etienne, Prieur, Fabienne, Kosel, Matthew, Damiola, Francesca, Sobol, Hagay, Coupier, Isabelle, Venat-Bouvet, Laurence, Castera, Laurent, Peock, Susan, Gauthier-Villars, Marion, Léoné, Mélanie, Pujol, Pascal, Mazoyer, Sylvie, Bignon, Yves-Jean, Healey, Sue, Złowocka-Perłowska, Elżbieta, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Morrison, Patrick J, Jaworska, Katarzyna, Huzarski, Tomasz, Spurdle, Amanda B, Viel, Alessandra, Peissel, Bernard, Bonanni, Bernardo, Sinilnikova, Olga M, Melloni, Giulia, Ottini, Laura, Papi, Laura, Pedersen, Inge Sokilde, Varesco, Liliana, Tibiletti, Maria Grazia, Peterlongo, Paolo, Volorio, Sara, Manoukian, Siranoush, Pensotti, Valeria, Arnold, Norbert, Lee, Adam, Engel, Christoph, Deissler, Helmut, Moeller, Sanne Traasdahl, Gadzicki, Dorothea, Gehrig, Andrea, Kast, Karin, Rhiem, Kerstin, Meindl, Alfons, Niederacher, Dieter, Ditsch, Nina, Plendl, Hansjoerg, Bacot, François, Preisler-Adams, Sabine, Kruse, Torben A, Engert, Stefanie, Sutter, Christian, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Weber, Bernhard H F, Arver, Brita, Stenmark-Askmalm, Marie, Loman, Niklas, Rosenquist, Richard, Vincent, Daniel, Jensen, Uffe Birk, 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, Vijai, Joseph, Hogervorst, Frans B L, Rappaport, Christine, Sarrel, Kara, Robson, Mark, Kauff, Noah, Mulligan, Anna Marie, Glendon, Gord, Side, Lucy E, Stoppa-Lyonnet, Dominique, Ozcelik, Hilmi, Ejlertsen, Bent, Nielsen, Finn C, Jønson, Lars, Andersen, Mette K, Ding, Yuan Chun, Steele, Linda, Foretova, Lenka, Teulé, Alex, Donaldson, Alan, Lazaro, Conxi, Jakubowska, Anna, Brunet, Joan, Pujana, Miquel Angel, Mai, Phuong L, Loud, Jennifer T, Walsh, Christine, Lester, Jenny, Orsulic, Sandra, Narod, Steven A, Houghton, Catherine, Herzog, Josef, Sand, Sharon R, Radice, Paolo, Tognazzo, Silvia, Agata, Simona, Vaszko, Tibor, Weaver, Joellen, Stavropoulou, Alexandra V, Buys, Saundra S, Romero, Atocha, Rogers, Mark T, de la Hoya, Miguel, Aittomäki, Kristiina, Muranen, Taru A, Schmutzler, Rita Katharina, Duran, Mercedes, Chung, Wendy K, Lasa, Adriana, Dorfling, Cecilia M, Miron, Alexander, Benitez, Javier, Dorkins, Huw, Senter, Leigha, Huo, Dezheng, Chan, Salina B, Sokolenko, Anna P, Domchek, Susan M, Chiquette, Jocelyne, Tihomirova, Laima, Friebel, Tara M, Agnarsson, Bjarni A, Lu, Karen H, Eason, Jacqueline, Lejbkowicz, Flavio, James, Paul A, Hall, Per, Dunning, Alison M, Tessier, Daniel, Piedmonte, Marion, Cunningham, Julie, Slager, Susan L, Wang, Chen, Hart, Steven, Gregory, Helen, Stevens, Kristen |
| المساهمون: | Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA, Mayo Clin, Rochester, MN USA, Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England, Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA, Ctr Hosp Univ Quebec, Canc Genom Lab, Quebec City, PQ, Canada, Univ Laval, Quebec City, PQ, Canada, Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA, Queensland Inst Med Res, Dept Genet, Brisbane, Qld 4006, Australia, Hosp Civils Lyon, Unite Mixte Genet Constitut Canc Frequents, Ctr Leon Berard, Lyon, France, Univ Lyon 1, INSERM U1052, CNRS UMR5286, Ctr Rech Cancerol Lyon, F-69365 Lyon, France, Mayo Clin, Dept Mol Pharmacol & Expt Therapeut MPET, Rochester, MN USA, Ctr Innovat Genome Quebec, Montreal, PQ, Canada, McGill Univ, Montreal, PQ, Canada, Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands, Inst Curie, Dept Tumour Biol, Paris, France, Inst Curie, INSERM U830, Paris, France, Univ Paris 05, Sorbonne Paris Cite, Paris, France, Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland, Peter MacCallum Canc Ctr, Kathleen Cuningham Consortium Res Familial Breast, Melbourne, Vic, Australia, Fdn IRCCS Ist Nazl Tumori INT, Unit Mol Bases Genet Risk & Genet Testing, Dept Prevent & Predict Med, Milan, Italy, Fdn Ist FIRC Oncol Mol, IFOM, Milan, Italy, Univ Hosp Cologne, Ctr Familial Breast & Ovarian Canc, Dept Obstet & Gynaecol, Cologne, Germany, Univ Hosp Cologne, Ctr Integrated Oncol, Ctr Mol Med Cologne, Cologne, Germany, Lund Univ, Dept Oncol, Lund, Sweden, Univ Penn, Abramson Canc Ctr, Philadelphia, PA 19104 USA, Roswell Pk Canc Inst, Gynecol Oncol Grp, Stat & Data Ctr, Buffalo, NY 14263 USA, Med Univ Vienna, Dept Obstet & Gynecol, Vienna, Austria, Med Univ Vienna, Ctr Comprehens Canc, Vienna, Austria, Chaim Sheba Med Ctr, Tel Aviv, Israel, Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark, Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada, Copenhagen Univ Hosp, Ctr Genom Med, Rigshosp, Copenhagen, Denmark, City Hope Natl Med Ctr, Dept Populat Sci, Beckman Res Inst, Duarte, CA USA, Univ Delaware, Ctr Translat Canc Res, Dept Biol Sci, Newark, DE USA, IDIBELL Catalan Inst Oncol, Genet Counseling Unit, Hereditary Canc Program, Barcelona, Spain, IDIBGI Catalan Inst Oncol, Genet Counseling Unit, Hereditary Canc Program, Girona, Spain, IDIBELL Catalan Inst Oncol, Translat Res Lab, Breast Canc & Syst Biol Unit, Barcelona, Spain, Univ Toronto, Womens Coll Res Inst, Toronto, ON, Canada, Fox Chase Canc Ctr, Philadelphia, PA 19111 USA, Univ Utah, Sch Med, Dept Internal Med, Huntsman Canc Inst, Salt Lake City, UT USA, Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland, Univ Valladolid IBGM UVA, Inst Biol & Mol Genet, Valladolid, Spain, Columbia Univ, Dept Pediat, New York, NY 10027 USA, Hosp Santa Creu & Sant Pau, Genet Serv, Barcelona, Spain, Dana Farber Canc Inst, Dept Canc Biol, Boston, MA 02115 USA, Canc Prevent Inst Calif, Breast Canc Family Registry, Fremont, CA USA, Spanish Natl Canc Ctr CNIO, Human Genet Grp, Madrid, Spain, Spanish Natl Canc Ctr CNIO, Genotyping Unit, Madrid, Spain, Biomed Network Rare Dis CIBERER, Madrid, Spain, Ohio State Univ, Ctr Comprehens Canc, Div Human Genet, Dept Internal Med, Columbus, OH 43210 USA, Univ Calif San Francisco, Canc Risk Program, Helen Diller Family Canc Ctr, San Francisco, CA 94143 USA, Univ Quebec, Unite Rech Sante Populat, Ctr Malad Sein Deschenes Fabia, Ctr Rech FRSQ,Ctr Hosp, Quebec City, PQ, Canada, Latvian Biomed Res & Study Ctr, Riga, Latvia, Univ Penn, Philadelphia, PA 19104 USA, Landspitali Univ Hosp, Reykjavik, Iceland, Univ Iceland, Sch Med, Reykjavik, Iceland, Clalit Natl Israeli Canc Control Ctr, Haifa, Israel, Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel, Peter MacCallum Canc Ctr, Familial Canc Ctr, Melbourne, Vic, Australia, Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden, Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England, McGill Univ, Dept Human Genet, Montreal, PQ, Canada, McGill Univ, Genome Quebec Innovat Ctr, Montreal, PQ, Canada |
| بيانات النشر: | Public Library Science |
| سنة النشر: | 2013 |
| المجموعة: | Hirsla - Landspítali University Hospital research archive |
| مصطلحات موضوعية: | Brjóstakrabbamein, Erfðir, Gen, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Heterozygote, Humans, Middle Aged, Mutation, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Prognosis, Risk Factors |
| الوصف: | To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. ; 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. ; IH CA128978 P30 CA033752 R01CA74415 1R01 CA149429-01 NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer CA116201 U.S. ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1553-7404 |
| العلاقة: | http://dx.doi.org/10.1371/journal.pgen.1003212Test; PLoS Genet. 2013, 9 (3):e1003212; http://hdl.handle.net/2336/312762Test; PLoS genetics |
| DOI: | 10.1371/journal.pgen.1003212 |
| الإتاحة: | https://doi.org/10.1371/journal.pgen.1003212Test http://hdl.handle.net/2336/312762Test |
| حقوق: | openAccess ; Open Access |
| رقم الانضمام: | edsbas.21904A99 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 15537404 |
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| DOI: | 10.1371/journal.pgen.1003212 |