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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 13803naa a22036613a 4500 | |
| 001 | 22081449 | |
| 003 | SE-LIBR | |
| 005 | 20171207153510.0 | |
| 007 | cr|||||||||||| | |
| 008 | 171207s2013 sw |||| o |||| ||eng c | |
| 024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1994842 uri |
| 024 | 7 | a urn:nbn:se:uu:diva-1994842 urn |
| 024 | 7 | a 10.1371/journal.pgen.10032122 doi |
| 040 | a S | |
| 041 | 0 | a eng |
| 042 | 9 EPLK | |
| 100 | 1 | a Couch, Fergus J.4 aut |
| 245 | 1 0 | a Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Riskh [Elektronisk resurs] |
| 260 | c 2013 | |
| 500 | a Published | |
| 506 | 0 | a gratis |
| 520 | a 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 x 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 x 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 x 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 x 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. | |
| 650 | 7 | a Medical and Health Sciences2 hsv |
| 650 | 7 | a Medicin och hälsovetenskap2 hsv |
| 650 | 7 | a Natural Sciences2 hsv |
| 650 | 7 | a Naturvetenskap2 hsv0 264446 |
| 700 | 1 | a Wang, Xianshu4 aut |
| 700 | 1 | a McGuffog, Lesley4 aut |
| 700 | 1 | a Lee, Andrew4 aut |
| 700 | 1 | a Olswold, Curtis4 aut |
| 700 | 1 | a Kuchenbaecker, Karoline B.4 aut |
| 700 | 1 | a Soucy, Penny4 aut |
| 700 | 1 | a Fredericksen, Zachary4 aut |
| 700 | 1 | a Barrowdale, Daniel4 aut |
| 700 | 1 | a Dennis, Joe4 aut |
| 700 | 1 | a Gaudet, Mia M.4 aut |
| 700 | 1 | a Dicks, Ed4 aut |
| 700 | 1 | a Kosel, Matthew4 aut |
| 700 | 1 | a Healey, Sue4 aut |
| 700 | 1 | a Sinilnikova, Olga M.4 aut |
| 700 | 1 | a Lee, Adam4 aut |
| 700 | 1 | a Bacot, Francois4 aut |
| 700 | 1 | a Vincent, Daniel4 aut |
| 700 | 1 | a Hogervorst, Frans B. L.4 aut |
| 700 | 1 | a Peock, Susan4 aut |
| 700 | 1 | a Stoppa-Lyonnet, Dominique4 aut |
| 700 | 1 | a Jakubowska, Anna4 aut |
| 700 | 1 | a Radice, Paolo4 aut |
| 700 | 1 | a Schmutzler, Rita Katharina4 aut |
| 700 | 1 | a Domchek, Susan M.4 aut |
| 700 | 1 | a Piedmonte, Marion4 aut |
| 700 | 1 | a Singer, Christian F.4 aut |
| 700 | 1 | a Friedman, Eitan4 aut |
| 700 | 1 | a Thomassen, Mads4 aut |
| 700 | 1 | a Hansen, Thomas V. O.4 aut |
| 700 | 1 | a Neuhausen, Susan L.4 aut |
| 700 | 1 | a Szabo, Csilla I.4 aut |
| 700 | 1 | a Blanco, Ignacio4 aut |
| 700 | 1 | a Greene, Mark H.4 aut |
| 700 | 1 | a Karlan, Beth Y.4 aut |
| 700 | 1 | a Garber, Judy4 aut |
| 700 | 1 | a Phelan, Catherine M.4 aut |
| 700 | 1 | a Weitzel, Jeffrey N.4 aut |
| 700 | 1 | a Montagna, Marco4 aut |
| 700 | 1 | a Olah, Edith4 aut |
| 700 | 1 | a Andrulis, Irene L.4 aut |
| 700 | 1 | a Godwin, Andrew K.4 aut |
| 700 | 1 | a Yannoukakos, Drakoulis4 aut |
| 700 | 1 | a Goldgar, David E.4 aut |
| 700 | 1 | a Caldes, Trinidad4 aut |
| 700 | 1 | a Nevanlinna, Heli4 aut |
| 700 | 1 | a Osorio, Ana4 aut |
| 700 | 1 | a Terry, Mary Beth4 aut |
| 700 | 1 | a Daly, Mary B.4 aut |
| 700 | 1 | a van Rensburg, Elizabeth J.4 aut |
| 700 | 1 | a Hamann, Ute4 aut |
| 700 | 1 | a Ramus, Susan J.4 aut |
| 700 | 1 | a Toland, Amanda Ewart4 aut |
| 700 | 1 | a Caligo, Maria A.4 aut |
| 700 | 1 | a Olopade, Olufunmilayo I.4 aut |
| 700 | 1 | a Tung, Nadine4 aut |
| 700 | 1 | a Claes, Kathleen4 aut |
| 700 | 1 | a Beattie, Mary S.4 aut |
| 700 | 1 | a Southey, Melissa C.4 aut |
| 700 | 1 | a Imyanitov, Evgeny N.4 aut |
| 700 | 1 | a Tischkowitz, Marc4 aut |
| 700 | 1 | a Janavicius, Ramunas4 aut |
| 700 | 1 | a John, Esther M.4 aut |
| 700 | 1 | a Kwong, Ava4 aut |
| 700 | 1 | a Diez, Orland4 aut |
| 700 | 1 | a Balmana, Judith4 aut |
| 700 | 1 | a Barkardottir, Rosa B.4 aut |
| 700 | 1 | a Arun, Banu K.4 aut |
| 700 | 1 | a Rennert, Gad4 aut |
| 700 | 1 | a Teo, Soo-Hwang4 aut |
| 700 | 1 | a Ganz, Patricia A.4 aut |
| 700 | 1 | a Campbell, Ian4 aut |
| 700 | 1 | a van der Hout, Annemarie H.4 aut |
| 700 | 1 | a van Deurzen, Carolien H. M.4 aut |
| 700 | 1 | a Seynaeve, Caroline4 aut |
| 700 | 1 | a Garcia, Encarna B. Gomez4 aut |
| 700 | 1 | a van Leeuwen, Flora E.4 aut |
| 700 | 1 | a Meijers-Heijboer, Hanne E. J.4 aut |
| 700 | 1 | a Gille, Johannes J. P.4 aut |
| 700 | 1 | a Ausems, Margreet G. E. M.4 aut |
| 700 | 1 | a Blok, Marinus J.4 aut |
| 700 | 1 | a Ligtenberg, Marjolijn J. L.4 aut |
| 700 | 1 | a Rookus, Matti A.4 aut |
| 700 | 1 | a Devilee, Peter4 aut |
| 700 | 1 | a Verhoef, Senno4 aut |
| 700 | 1 | a van Os, Theo A. M.4 aut |
| 700 | 1 | a Wijnen, Juul T.4 aut |
| 700 | 1 | a Frost, Debra4 aut |
| 700 | 1 | a Ellis, Steve4 aut |
| 700 | 1 | a Fineberg, Elena4 aut |
| 700 | 1 | a Platte, Radka4 aut |
| 700 | 1 | a Evans, D. Gareth4 aut |
| 700 | 1 | a Izatt, Louise4 aut |
| 700 | 1 | a Eeles, Rosalind A.4 aut |
| 700 | 1 | a Adlard, Julian4 aut |
| 700 | 1 | a Eccles, Diana M.4 aut |
| 700 | 1 | a Cook, Jackie4 aut |
| 700 | 1 | a Brewer, Carole4 aut |
| 700 | 1 | a Douglas, Fiona4 aut |
| 700 | 1 | a Hodgson, Shirley4 aut |
| 700 | 1 | a Morrison, Patrick J.4 aut |
| 700 | 1 | a Side, Lucy E.4 aut |
| 700 | 1 | a Donaldson, Alan4 aut |
| 700 | 1 | a Houghton, Catherine4 aut |
| 700 | 1 | a Rogers, Mark T.4 aut |
| 700 | 1 | a Dorkins, Huw4 aut |
| 700 | 1 | a Eason, Jacqueline4 aut |
| 700 | 1 | a Gregory, Helen4 aut |
| 700 | 1 | a McCann, Emma4 aut |
| 700 | 1 | a Murray, Alex4 aut |
| 700 | 1 | a Calender, Alain4 aut |
| 700 | 1 | a Hardouin, Agnes4 aut |
| 700 | 1 | a Berthet, Pascaline4 aut |
| 700 | 1 | a Delnatte, Capucine4 aut |
| 700 | 1 | a Nogues, Catherine4 aut |
| 700 | 1 | a Lasset, Christine4 aut |
| 700 | 1 | a Houdayer, Claude4 aut |
| 700 | 1 | a Leroux, Dominique4 aut |
| 700 | 1 | a Rouleau, Etienne4 aut |
| 700 | 1 | a Prieur, Fabienne4 aut |
| 700 | 1 | a Damiola, Francesca4 aut |
| 700 | 1 | a Sobol, Hagay4 aut |
| 700 | 1 | a Coupier, Isabelle4 aut |
| 700 | 1 | a Venat-Bouvet, Laurence4 aut |
| 700 | 1 | a Castera, Laurent4 aut |
| 700 | 1 | a Gauthier-Villars, Marion4 aut |
| 700 | 1 | a Leone, Melanie4 aut |
| 700 | 1 | a Pujol, Pascal4 aut |
| 700 | 1 | a Mazoyer, Sylvie4 aut |
| 700 | 1 | a Bignon, Yves-Jean4 aut |
| 700 | 1 | a Zlowocka-Perlowska, Elzbieta4 aut |
| 700 | 1 | a Gronwald, Jacek4 aut |
| 700 | 1 | a Lubinski, Jan4 aut |
| 700 | 1 | a Durda, Katarzyna4 aut |
| 700 | 1 | a Jaworska, Katarzyna4 aut |
| 700 | 1 | a Huzarski, Tomasz4 aut |
| 700 | 1 | a Spurdle, Amanda B.4 aut |
| 700 | 1 | a Viel, Alessandra4 aut |
| 700 | 1 | a Peissel, Bernard4 aut |
| 700 | 1 | a Bonanni, Bernardo4 aut |
| 700 | 1 | a Melloni, Giulia4 aut |
| 700 | 1 | a Ottini, Laura4 aut |
| 700 | 1 | a Papi, Laura4 aut |
| 700 | 1 | a Varesco, Liliana4 aut |
| 700 | 1 | a Tibiletti, Maria Grazia4 aut |
| 700 | 1 | a Peterlongo, Paolo4 aut |
| 700 | 1 | a Volorio, Sara4 aut |
| 700 | 1 | a Manoukian, Siranoush4 aut |
| 700 | 1 | a Pensotti, Valeria4 aut |
| 700 | 1 | a Arnold, Norbert4 aut |
| 700 | 1 | a Engel, Christoph4 aut |
| 700 | 1 | a Deissler, Helmut4 aut |
| 700 | 1 | a Gadzicki, Dorothea4 aut |
| 700 | 1 | a Gehrig, Andrea4 aut |
| 700 | 1 | a Kast, Karin4 aut |
| 700 | 1 | a Rhiem, Kerstin4 aut |
| 700 | 1 | a Meindl, Alfons4 aut |
| 700 | 1 | a Niederacher, Dieter4 aut |
| 700 | 1 | a Ditsch, Nina4 aut |
| 700 | 1 | a Plendl, Hansjoerg4 aut |
| 700 | 1 | a Preisler-Adams, Sabine4 aut |
| 700 | 1 | a Engert, Stefanie4 aut |
| 700 | 1 | a Sutter, Christian4 aut |
| 700 | 1 | a Varon-Mateeva, Raymonda4 aut |
| 700 | 1 | a Wappenschmidt, Barbara4 aut |
| 700 | 1 | a Weber, Bernhard H. F.4 aut |
| 700 | 1 | a Arver, Brita4 aut |
| 700 | 1 | a Stenmark-Askmalm, Marie4 aut |
| 700 | 1 | a Loman, Niklas4 aut |
| 700 | 1 | a Rosenquist, Richard4 aut |
| 700 | 1 | a Einbeigi, Zakaria4 aut |
| 700 | 1 | a Nathanson, Katherine L.4 aut |
| 700 | 1 | a Rebbeck, Timothy R.4 aut |
| 700 | 1 | a Blank, Stephanie V.4 aut |
| 700 | 1 | a Cohn, David E.4 aut |
| 700 | 1 | a Rodriguez, Gustavo C.4 aut |
| 700 | 1 | a Small, Laurie4 aut |
| 700 | 1 | a Friedlander, Michael4 aut |
| 700 | 1 | a Bae-Jump, Victoria L.4 aut |
| 700 | 1 | a Fink-Retter, Anneliese4 aut |
| 700 | 1 | a Rappaport, Christine4 aut |
| 700 | 1 | a Gschwantler-Kaulich, Daphne4 aut |
| 700 | 1 | a Pfeiler, Georg4 aut |
| 700 | 1 | a Tea, Muy-Kheng4 aut |
| 700 | 1 | a Lindor, Noralane M.4 aut |
| 700 | 1 | a Kaufman, Bella4 aut |
| 700 | 1 | a Paluch, Shani Shimon4 aut |
| 700 | 1 | a Laitman, Yael4 aut |
| 700 | 1 | a Skytte, Anne-Bine4 aut |
| 700 | 1 | a Gerdes, Anne-Marie4 aut |
| 700 | 1 | a Pedersen, Inge Sokilde4 aut |
| 700 | 1 | a Moeller, Sanne Traasdahl4 aut |
| 700 | 1 | a Kruse, Torben A.4 aut |
| 700 | 1 | a Jensen, Uffe Birk4 aut |
| 700 | 1 | a Vijai, Joseph4 aut |
| 700 | 1 | a Sarrel, Kara4 aut |
| 700 | 1 | a Robson, Mark4 aut |
| 700 | 1 | a Kauff, Noah4 aut |
| 700 | 1 | a Mulligan, Anna Marie4 aut |
| 700 | 1 | a Glendon, Gord4 aut |
| 700 | 1 | a Ozcelik, Hilmi4 aut |
| 700 | 1 | a Ejlertsen, Bent4 aut |
| 700 | 1 | a Nielsen, Finn C.4 aut |
| 700 | 1 | a Jonson, Lars4 aut |
| 700 | 1 | a Andersen, Mette K.4 aut |
| 700 | 1 | a Ding, Yuan Chun4 aut |
| 700 | 1 | a Steele, Linda4 aut |
| 700 | 1 | a Foretova, Lenka4 aut |
| 700 | 1 | a Teule, Alex4 aut |
| 700 | 1 | a Lazaro, Conxi4 aut |
| 700 | 1 | a Brunet, Joan4 aut |
| 700 | 1 | a Angel Pujana, Miquel4 aut |
| 700 | 1 | a Mai, Phuong L.4 aut |
| 700 | 1 | a Loud, Jennifer T.4 aut |
| 700 | 1 | a Walsh, Christine4 aut |
| 700 | 1 | a Lester, Jenny4 aut |
| 700 | 1 | a Orsulic, Sandra4 aut |
| 700 | 1 | a Narod, Steven A.4 aut |
| 700 | 1 | a Herzog, Josef4 aut |
| 700 | 1 | a Sand, Sharon R.4 aut |
| 700 | 1 | a Tognazzo, Silvia4 aut |
| 700 | 1 | a Agata, Simona4 aut |
| 700 | 1 | a Vaszko, Tibor4 aut |
| 700 | 1 | a Weaver, Joellen4 aut |
| 700 | 1 | a Stavropoulou, Alexandra V.4 aut |
| 700 | 1 | a Buys, Saundra S.4 aut |
| 700 | 1 | a Romero, Atocha4 aut |
| 700 | 1 | a de la Hoya, Miguel4 aut |
| 700 | 1 | a Aittomaki, Kristiina4 aut |
| 700 | 1 | a Muranen, Taru A.4 aut |
| 700 | 1 | a Duran, Mercedes4 aut |
| 700 | 1 | a Chung, Wendy K.4 aut |
| 700 | 1 | a Lasa, Adriana4 aut |
| 700 | 1 | a Dorfling, Cecilia M.4 aut |
| 700 | 1 | a Miron, Alexander4 aut |
| 700 | 1 | a Benitez, Javier4 aut |
| 700 | 1 | a Senter, Leigha4 aut |
| 700 | 1 | a Huo, Dezheng4 aut |
| 700 | 1 | a Chan, Salina B.4 aut |
| 700 | 1 | a Sokolenko, Anna P.4 aut |
| 700 | 1 | a Chiquette, Jocelyne4 aut |
| 700 | 1 | a Tihomirova, Laima4 aut |
| 700 | 1 | a Friebel, Tara M.4 aut |
| 700 | 1 | a Agnarsson, Bjarni A.4 aut |
| 700 | 1 | a Lu, Karen H.4 aut |
| 700 | 1 | a Lejbkowicz, Flavio4 aut |
| 700 | 1 | a James, Paul A.4 aut |
| 700 | 1 | a Hall, Per4 aut |
| 700 | 1 | a Dunning, Alison M.4 aut |
| 700 | 1 | a Tessier, Daniel4 aut |
| 700 | 1 | a Cunningham, Julie4 aut |
| 700 | 1 | a Slager, Susan L.4 aut |
| 700 | 1 | a Wang, Chen4 aut |
| 700 | 1 | a Hart, Steven4 aut |
| 700 | 1 | a Stevens, Kristen4 aut |
| 700 | 1 | a Simard, Jacques4 aut |
| 700 | 1 | a Pastinen, Tomi4 aut |
| 700 | 1 | a Pankratz, Vernon S.4 aut |
| 700 | 1 | a Offit, Kenneth4 aut |
| 700 | 1 | a Easton, Douglas F.4 aut |
| 700 | 1 | a Chenevix-Trench, Georgia4 aut |
| 700 | 1 | a Antoniou, Antonis C.4 aut |
| 710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
| 772 | 1 8 | i channel recordw 19753896 |
| 773 | 0 8 | i Värdpublikationt PLOS Geneticsg 9:3, e1003212x 1553-7390 |
| 856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-199484 |
| 856 | 4 0 | u http://dx.doi.org/10.1371/journal.pgen.1003212 |
| 856 | 4 0 | u http://uu.diva-portal.org/smash/get/diva2:620113/FULLTEXT01 |
| 950 | k | 6 650a Atomerw hu Naturvetenskap |
| 950 | k | 6 650a Experimentw hu Naturvetenskap |
| 950 | k | 6 650a Fysikw hu Naturvetenskap |
| 950 | k | 6 650a Kemiw hu Naturvetenskap |
| 950 | k | 6 650a Kloningw hu Naturvetenskap |
| 950 | k | 6 650a Laboratorierw hu Naturvetenskap |
| 950 | k | 6 650a Marinbiologiw hu Naturvetenskap |
| 950 | k | 6 650a Matematikw hu Naturvetenskap |
| 950 | k | 6 650a Medicinska experimentw hu Naturvetenskap |
| 950 | k | 6 650a Tyngdlagenw hu Naturvetenskap |
| 950 | k | 6 650a Utvecklingsläraw hu Naturvetenskap |
| 841 | 5 APISa x ab 171207||0000|||||001||||||000000e 1 | |
| 024 | 7 | 5 APISa urn:nbn:se:uu:diva-1994842 urn |
| 852 | 5 APISb APIS | |
| 856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-199484 |
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