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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 10217naa a22025453a 4500 | |
| 001 | 22094627 | |
| 003 | SE-LIBR | |
| 005 | 20171208151405.0 | |
| 007 | cr|||||||||||| | |
| 008 | 171208s2012 sw |||| o |||| ||eng c | |
| 024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1819522 uri |
| 024 | 7 | a urn:nbn:se:uu:diva-1819522 urn |
| 024 | 7 | a 10.1186/bcr31212 doi |
| 040 | a S | |
| 041 | 0 | a eng |
| 042 | 9 EPLK | |
| 100 | 1 | a Antoniou, Antonis C.4 aut |
| 245 | 1 0 | a Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriersh [Elektronisk resurs] |
| 260 | c 2012 | |
| 500 | a Published | |
| 506 | 0 | a gratis |
| 520 | a Introduction: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10(-4)). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10(-5), P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df P = 0.007; rs1292011 2df P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10(-5)) and there was marginal evidence of association with ER- negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers. | |
| 650 | 7 | a Medical and Health Sciences2 hsv |
| 650 | 7 | a Medicin och hälsovetenskap2 hsv |
| 700 | 1 | a Kuchenbaecker, Karoline B.4 aut |
| 700 | 1 | a Soucy, Penny4 aut |
| 700 | 1 | a Beesley, Jonathan4 aut |
| 700 | 1 | a Chen, Xiaoqing4 aut |
| 700 | 1 | a McGuffog, Lesley4 aut |
| 700 | 1 | a Lee, Andrew4 aut |
| 700 | 1 | a Barrowdale, Daniel4 aut |
| 700 | 1 | a Healey, Sue4 aut |
| 700 | 1 | a Sinilnikova, Olga M.4 aut |
| 700 | 1 | a Caligo, Maria A.4 aut |
| 700 | 1 | a Loman, Niklas4 aut |
| 700 | 1 | a Harbst, Katja4 aut |
| 700 | 1 | a Lindblom, Annika4 aut |
| 700 | 1 | a Arver, Brita4 aut |
| 700 | 1 | a Rosenquist, Richard4 aut |
| 700 | 1 | a Karlsson, Per4 aut |
| 700 | 1 | a Nathanson, Kate4 aut |
| 700 | 1 | a Domchek, Susan4 aut |
| 700 | 1 | a Rebbeck, Tim4 aut |
| 700 | 1 | a Jakubowska, Anna4 aut |
| 700 | 1 | a Lubinski, Jan4 aut |
| 700 | 1 | a Jaworska, Katarzyna4 aut |
| 700 | 1 | a Durda, Katarzyna4 aut |
| 700 | 1 | a Zlowowcka-Perlowska, Elzbieta4 aut |
| 700 | 1 | a Osorio, Ana4 aut |
| 700 | 1 | a Duran, Mercedes4 aut |
| 700 | 1 | a Andres, Raquel4 aut |
| 700 | 1 | a Benitez, Javier4 aut |
| 700 | 1 | a Hamann, Ute4 aut |
| 700 | 1 | a Hogervorst, Frans B.4 aut |
| 700 | 1 | a van Os, Theo A.4 aut |
| 700 | 1 | a Verhoef, Senno4 aut |
| 700 | 1 | a Meijers-Heijboer, Hanne E. J.4 aut |
| 700 | 1 | a Wijnen, Juul4 aut |
| 700 | 1 | a Garcia, Encarna B. Gomez4 aut |
| 700 | 1 | a Ligtenberg, Marjolijn J.4 aut |
| 700 | 1 | a Kriege, Mieke4 aut |
| 700 | 1 | a Collee, Margriet4 aut |
| 700 | 1 | a Ausems, Margreet G. E. M.4 aut |
| 700 | 1 | a Oosterwijk, Jan C.4 aut |
| 700 | 1 | a Peock, Susan4 aut |
| 700 | 1 | a Frost, Debra4 aut |
| 700 | 1 | a Ellis, Steve D.4 aut |
| 700 | 1 | a Platte, Radka4 aut |
| 700 | 1 | a Fineberg, Elena4 aut |
| 700 | 1 | a Evans, D. Gareth4 aut |
| 700 | 1 | a Lalloo, Fiona4 aut |
| 700 | 1 | a Jacobs, Chris4 aut |
| 700 | 1 | a Eeles, Ros4 aut |
| 700 | 1 | a Adlard, Julian4 aut |
| 700 | 1 | a Davidson, Rosemarie4 aut |
| 700 | 1 | a Cole, Trevor4 aut |
| 700 | 1 | a Cook, Jackie4 aut |
| 700 | 1 | a Paterson, Joan4 aut |
| 700 | 1 | a Douglas, Fiona4 aut |
| 700 | 1 | a Brewer, Carole4 aut |
| 700 | 1 | a Hodgson, Shirley4 aut |
| 700 | 1 | a Morrison, Patrick J.4 aut |
| 700 | 1 | a Walker, Lisa4 aut |
| 700 | 1 | a Rogers, Mark T.4 aut |
| 700 | 1 | a Donaldson, Alan4 aut |
| 700 | 1 | a Dorkins, Huw4 aut |
| 700 | 1 | a Godwin, Andrew K.4 aut |
| 700 | 1 | a Bove, Betsy4 aut |
| 700 | 1 | a Stoppa-Lyonnet, Dominique4 aut |
| 700 | 1 | a Houdayer, Claude4 aut |
| 700 | 1 | a Buecher, Bruno4 aut |
| 700 | 1 | a de Pauw, Antoine4 aut |
| 700 | 1 | a Mazoyer, Sylvie4 aut |
| 700 | 1 | a Calender, Alain4 aut |
| 700 | 1 | a Leone, Melanie4 aut |
| 700 | 1 | a Bressac-de Paillerets, Brigitte4 aut |
| 700 | 1 | a Caron, Olivier4 aut |
| 700 | 1 | a Sobol, Hagay4 aut |
| 700 | 1 | a Frenay, Marc4 aut |
| 700 | 1 | a Prieur, Fabienne4 aut |
| 700 | 1 | a Ferrer, Sandra Fert4 aut |
| 700 | 1 | a Mortemousque, Isabelle4 aut |
| 700 | 1 | a Buys, Saundra4 aut |
| 700 | 1 | a Daly, Mary4 aut |
| 700 | 1 | a Miron, Alexander4 aut |
| 700 | 1 | a Terry, Mary Beth4 aut |
| 700 | 1 | a Hopper, John L.4 aut |
| 700 | 1 | a John, Esther M.4 aut |
| 700 | 1 | a Southey, Melissa4 aut |
| 700 | 1 | a Goldgar, David4 aut |
| 700 | 1 | a Singer, Christian F.4 aut |
| 700 | 1 | a Fink-Retter, Anneliese4 aut |
| 700 | 1 | a Tea, Muy-Kheng4 aut |
| 700 | 1 | a Kaulich, Daphne Geschwantler4 aut |
| 700 | 1 | a Hansen, Thomas V. O.4 aut |
| 700 | 1 | a Nielsen, Finn C.4 aut |
| 700 | 1 | a Barkardottir, Rosa B.4 aut |
| 700 | 1 | a Gaudet, Mia4 aut |
| 700 | 1 | a Kirchhoff, Tomas4 aut |
| 700 | 1 | a Joseph, Vijai4 aut |
| 700 | 1 | a Dutra-Clarke, Ana4 aut |
| 700 | 1 | a Offit, Kenneth4 aut |
| 700 | 1 | a Piedmonte, Marion4 aut |
| 700 | 1 | a Kirk, Judy4 aut |
| 700 | 1 | a Cohn, David4 aut |
| 700 | 1 | a Hurteau, Jean4 aut |
| 700 | 1 | a Byron, John4 aut |
| 700 | 1 | a Fiorica, James4 aut |
| 700 | 1 | a Toland, Amanda E.4 aut |
| 700 | 1 | a Montagna, Marco4 aut |
| 700 | 1 | a Oliani, Cristina4 aut |
| 700 | 1 | a Imyanitov, Evgeny4 aut |
| 700 | 1 | a Isaacs, Claudine4 aut |
| 700 | 1 | a Tihomirova, Laima4 aut |
| 700 | 1 | a Blanco, Ignacio4 aut |
| 700 | 1 | a Lazaro, Conxi4 aut |
| 700 | 1 | a Teule, Alex4 aut |
| 700 | 1 | a Del Valle, J.4 aut |
| 700 | 1 | a Gayther, Simon A.4 aut |
| 700 | 1 | a Odunsi, Kunle4 aut |
| 700 | 1 | a Gross, Jenny4 aut |
| 700 | 1 | a Karlan, Beth Y.4 aut |
| 700 | 1 | a Olah, Edith4 aut |
| 700 | 1 | a Teo, Soo-Hwang4 aut |
| 700 | 1 | a Ganz, Patricia A.4 aut |
| 700 | 1 | a Beattie, Mary S.4 aut |
| 700 | 1 | a Dorfling, Cecelia M.4 aut |
| 700 | 1 | a van Rensburg, Elizabeth Jansen4 aut |
| 700 | 1 | a Diez, Orland4 aut |
| 700 | 1 | a Kwong, Ava4 aut |
| 700 | 1 | a Schmutzler, Rita K.4 aut |
| 700 | 1 | a Wappenschmidt, Barbara4 aut |
| 700 | 1 | a Engel, Christoph4 aut |
| 700 | 1 | a Meindl, Alfons4 aut |
| 700 | 1 | a Ditsch, Nina4 aut |
| 700 | 1 | a Arnold, Norbert4 aut |
| 700 | 1 | a Heidemann, Simone4 aut |
| 700 | 1 | a Niederacher, Dieter4 aut |
| 700 | 1 | a Preisler-Adams, Sabine4 aut |
| 700 | 1 | a Gadzicki, Dorothea4 aut |
| 700 | 1 | a Varon-Mateeva, Raymonda4 aut |
| 700 | 1 | a Deissler, Helmut4 aut |
| 700 | 1 | a Gehrig, Andrea4 aut |
| 700 | 1 | a Sutter, Christian4 aut |
| 700 | 1 | a Kast, Karin4 aut |
| 700 | 1 | a Fiebig, Britta4 aut |
| 700 | 1 | a Schaefer, Dieter4 aut |
| 700 | 1 | a Caldes, Trinidad4 aut |
| 700 | 1 | a de la Hoya, Miguel4 aut |
| 700 | 1 | a Nevanlinna, Heli4 aut |
| 700 | 1 | a Muranen, Taru A.4 aut |
| 700 | 1 | a Lesperance, Bernard4 aut |
| 700 | 1 | a Spurdle, Amanda B.4 aut |
| 700 | 1 | a Neuhausen, Susan L.4 aut |
| 700 | 1 | a Ding, Yuan C.4 aut |
| 700 | 1 | a Wang, Xianshu4 aut |
| 700 | 1 | a Fredericksen, Zachary4 aut |
| 700 | 1 | a Pankratz, Vernon S.4 aut |
| 700 | 1 | a Lindor, Noralane M.4 aut |
| 700 | 1 | a Peterlongo, Paolo4 aut |
| 700 | 1 | a Manoukian, Siranoush4 aut |
| 700 | 1 | a Peissel, Bernard4 aut |
| 700 | 1 | a Zaffaroni, Daniela4 aut |
| 700 | 1 | a Bonanni, Bernardo4 aut |
| 700 | 1 | a Bernard, Loris4 aut |
| 700 | 1 | a Dolcetti, Riccardo4 aut |
| 700 | 1 | a Papi, Laura4 aut |
| 700 | 1 | a Ottini, Laura4 aut |
| 700 | 1 | a Radice, Paolo4 aut |
| 700 | 1 | a Greene, Mark H.4 aut |
| 700 | 1 | a Loud, Jennifer T.4 aut |
| 700 | 1 | a Andrulis, Irene L.4 aut |
| 700 | 1 | a Ozcelik, Hilmi4 aut |
| 700 | 1 | a Mulligan, Anna Marie4 aut |
| 700 | 1 | a Glendon, Gord4 aut |
| 700 | 1 | a Thomassen, Mads4 aut |
| 700 | 1 | a Gerdes, Anne-Marie4 aut |
| 700 | 1 | a Jensen, Uffe B.4 aut |
| 700 | 1 | a Skytte, Anne-Bine4 aut |
| 700 | 1 | a Kruse, Torben A.4 aut |
| 700 | 1 | a Chenevix-Trench, Georgia4 aut |
| 700 | 1 | a Couch, Fergus J.4 aut |
| 700 | 1 | a Simard, Jacques4 aut |
| 700 | 1 | a Easton, Douglas F.4 aut |
| 710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
| 710 | 2 | a Rosenquist Brandell4 oth |
| 772 | 1 8 | i channel recordw 19753896 |
| 773 | 0 8 | i Värdpublikationt Breast Cancer Researchg 14:1, R33x 1465-5411 |
| 856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-181952 |
| 856 | 4 0 | u http://dx.doi.org/10.1186/bcr3121 |
| 856 | 4 0 | u http://uu.diva-portal.org/smash/get/diva2:558216/FULLTEXT01 |
| 841 | 5 APISa x ab 171208||0000|||||001||||||000000e 1 | |
| 024 | 7 | 5 APISa urn:nbn:se:uu:diva-1819522 urn |
| 852 | 5 APISb APIS | |
| 856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-181952 |
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