Sökning: WFRF:(Hake Christopher R.) > Olah Edith > Fine-Scale Mapping ...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 09010naa a22021733a 4500 | |
001 | 19935600 | |
003 | SE-LIBR | |
005 | 20161208154331.0 | |
007 | cr|||||||||||| | |
008 | 161208s2016 sw |||| o |||| ||eng c | |
024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1267882 uri |
024 | 7 | a urn:nbn:se:umu:diva-1267882 urn |
024 | 7 | a 10.1371/journal.pone.01588012 doi |
040 | a S | |
041 | 0 | a eng |
042 | 9 EPLK | |
100 | 1 | a Vigorito, Elena4 aut |
245 | 1 0 | a Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriersh [Elektronisk resurs] |
260 | c 2016 | |
500 | a Published | |
506 | 0 | a gratis |
520 | a Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95% CI: 0.68 to 0.79, p-value 2x 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95% CI: 0.59 to 0.80, p-value 1.0 x 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population. | |
650 | 7 | a Medical and Health Sciences2 hsv |
650 | 7 | a Clinical Medicine2 hsv |
650 | 7 | a Cancer and Oncology2 hsv |
650 | 7 | a Medicin och hälsovetenskap2 hsv |
650 | 7 | a Klinisk medicin2 hsv |
650 | 7 | a Cancer och onkologi2 hsv |
700 | 1 | a Kuchenbaecker, Karoline B.4 aut |
700 | 1 | a Beesley, Jonathan4 aut |
700 | 1 | a Adlard, Julian4 aut |
700 | 1 | a Agnarsson, Bjarni A.4 aut |
700 | 1 | a Andrulis, Irene L.4 aut |
700 | 1 | a Arun, Banu K.4 aut |
700 | 1 | a Barjhoux, Laure4 aut |
700 | 1 | a Belotti, Muriel4 aut |
700 | 1 | a Benitez, Javier4 aut |
700 | 1 | a Berger, Andreas4 aut |
700 | 1 | a Bojesen, Anders4 aut |
700 | 1 | a Bonanni, Bernardo4 aut |
700 | 1 | a Brewer, Carole4 aut |
700 | 1 | a Caldes, Trinidad4 aut |
700 | 1 | a Caligo, Maria A.4 aut |
700 | 1 | a Campbell, Ian4 aut |
700 | 1 | a Chan, Salina B.4 aut |
700 | 1 | a Claes, Kathleen B. M.4 aut |
700 | 1 | a Cohn, David E.4 aut |
700 | 1 | a Cook, Jackie4 aut |
700 | 1 | a Daly, Mary B.4 aut |
700 | 1 | a Damiola, Francesca4 aut |
700 | 1 | a Davidson, Rosemarie4 aut |
700 | 1 | a de Pauw, Antoine4 aut |
700 | 1 | a Delnatte, Capucine4 aut |
700 | 1 | a Diez, Orland4 aut |
700 | 1 | a Domchek, Susan M.4 aut |
700 | 1 | a Dumont, Martine4 aut |
700 | 1 | a Durda, Katarzyna4 aut |
700 | 1 | a Dworniczak, Bernd4 aut |
700 | 1 | a Easton, Douglas F.4 aut |
700 | 1 | a Eccles, Diana4 aut |
700 | 1 | a Edwinsdotter Ardnor, Christina4 aut |
700 | 1 | a Eeles, Ros4 aut |
700 | 1 | a Ejlertsen, Bent4 aut |
700 | 1 | a Ellis, Steve4 aut |
700 | 1 | a Evans, D. Gareth4 aut |
700 | 1 | a Feliubadalo, Lidia4 aut |
700 | 1 | a Fostira, Florentia4 aut |
700 | 1 | a Foulkes, William D.4 aut |
700 | 1 | a Friedman, Eitan4 aut |
700 | 1 | a Frost, Debra4 aut |
700 | 1 | a Gaddam, Pragna4 aut |
700 | 1 | a Ganz, Patricia A.4 aut |
700 | 1 | a Garber, Judy4 aut |
700 | 1 | a Garcia-Barberan, Vanesa4 aut |
700 | 1 | a Gauthier-Villars, Marion4 aut |
700 | 1 | a Gehrig, Andrea4 aut |
700 | 1 | a Gerdes, Anne-Marie4 aut |
700 | 1 | a Giraud, Sophie4 aut |
700 | 1 | a Godwin, Andrew K.4 aut |
700 | 1 | a Goldgar, David E.4 aut |
700 | 1 | a Hake, Christopher R.4 aut |
700 | 1 | a Hansen, Thomas V. O.4 aut |
700 | 1 | a Healey, Sue4 aut |
700 | 1 | a Hodgson, Shirley4 aut |
700 | 1 | a Hogervorst, Frans B. L.4 aut |
700 | 1 | a Houdayer, Claude4 aut |
700 | 1 | a Hulick, Peter J.4 aut |
700 | 1 | a Imyanitov, Evgeny N.4 aut |
700 | 1 | a Isaacs, Claudine4 aut |
700 | 1 | a Izatt, Louise4 aut |
700 | 1 | a Izquierdo, Angel4 aut |
700 | 1 | a Jacobs, Lauren4 aut |
700 | 1 | a Jakubowska, Anna4 aut |
700 | 1 | a Janavicius, Ramunas4 aut |
700 | 1 | a Jaworska-Bieniek, Katarzyna4 aut |
700 | 1 | a Jensen, Uffe Birk4 aut |
700 | 1 | a John, Esther M.4 aut |
700 | 1 | a Vijai, Joseph4 aut |
700 | 1 | a Karlan, Beth Y.4 aut |
700 | 1 | a Kast, Karin4 aut |
700 | 1 | a Khan, Sofia4 aut |
700 | 1 | a Kwong, Ava4 aut |
700 | 1 | a Laitman, Yael4 aut |
700 | 1 | a Lester, Jenny4 aut |
700 | 1 | a Lesueur, Fabienne4 aut |
700 | 1 | a Liljegren, Annelie4 aut |
700 | 1 | a Lubinski, Jan4 aut |
700 | 1 | a Mai, Phuong L.4 aut |
700 | 1 | a Manoukian, Siranoush4 aut |
700 | 1 | a Mazoyer, Sylvie4 aut |
700 | 1 | a Meindl, Alfons4 aut |
700 | 1 | a Mensenkamp, Arjen R.4 aut |
700 | 1 | a Montagna, Marco4 aut |
700 | 1 | a Nathanson, Katherine L.4 aut |
700 | 1 | a Neuhausen, Susan L.4 aut |
700 | 1 | a Nevanlinna, Heli4 aut |
700 | 1 | a Niederacher, Dieter4 aut |
700 | 1 | a Olah, Edith4 aut |
700 | 1 | a Olopade, Olufunmilayo I.4 aut |
700 | 1 | a Ong, Kai-ren4 aut |
700 | 1 | a Osorio, Ana4 aut |
700 | 1 | a Park, Sue Kyung4 aut |
700 | 1 | a Paulsson-Karlsson, Ylva4 aut |
700 | 1 | a Pedersen, Inge Sokilde4 aut |
700 | 1 | a Peissel, Bernard4 aut |
700 | 1 | a Peterlongo, Paolo4 aut |
700 | 1 | a Pfeiler, Georg4 aut |
700 | 1 | a Phelan, Catherine M.4 aut |
700 | 1 | a Piedmonte, Marion4 aut |
700 | 1 | a Poppe, Bruce4 aut |
700 | 1 | a Angel Pujana, Miquel4 aut |
700 | 1 | a Radice, Paolo4 aut |
700 | 1 | a Rennert, Gad4 aut |
700 | 1 | a Rodriguez, Gustavo C.4 aut |
700 | 1 | a Rookus, Matti A.4 aut |
700 | 1 | a Ross, Eric A.4 aut |
700 | 1 | a Schmutzler, Rita Katharina4 aut |
700 | 1 | a Simard, Jacques4 aut |
700 | 1 | a Singer, Christian F.4 aut |
700 | 1 | a Slavin, Thomas P.4 aut |
700 | 1 | a Soucy, Penny4 aut |
700 | 1 | a Southey, Melissa4 aut |
700 | 1 | a Steinemann, Doris4 aut |
700 | 1 | a Stoppa-Lyonnet, Dominique4 aut |
700 | 1 | a Sukiennicki, Grzegorz4 aut |
700 | 1 | a Sutter, Christian4 aut |
700 | 1 | a Szabo, Csilla I.4 aut |
700 | 1 | a Tea, Muy-Kheng4 aut |
700 | 1 | a Teixeira, Manuel R.4 aut |
700 | 1 | a Teo, Soo-Hwang4 aut |
700 | 1 | a Terry, Mary Beth4 aut |
700 | 1 | a Thomassen, Mads4 aut |
700 | 1 | a Tibiletti, Maria Grazia4 aut |
700 | 1 | a Tihomirova, Laima4 aut |
700 | 1 | a Tognazzo, Silvia4 aut |
700 | 1 | a van Rensburg, Elizabeth J.4 aut |
700 | 1 | a Varesco, Liliana4 aut |
700 | 1 | a Varon-Mateeva, Raymonda4 aut |
700 | 1 | a Vratimos, Athanassios4 aut |
700 | 1 | a Weitzel, Jeffrey N.4 aut |
700 | 1 | a McGuffog, Lesley4 aut |
700 | 1 | a Kirk, Judy4 aut |
700 | 1 | a Toland, Amanda Ewart4 aut |
700 | 1 | a Hamann, Ute4 aut |
700 | 1 | a Lindor, Noralane4 aut |
700 | 1 | a Ramus, Susan J.4 aut |
700 | 1 | a Greene, Mark H.4 aut |
700 | 1 | a Couch, Fergus J.4 aut |
700 | 1 | a Offit, Kenneth4 aut |
700 | 1 | a Pharoah, Paul D. P.4 aut |
700 | 1 | a Chenevix-Trench, Georgia4 aut |
700 | 1 | a Antoniou, Antonis C.4 aut |
710 | 1 2 | a Umeå universitetb Medicinska fakulteten4 pbl0 268483 |
772 | 1 8 | i channel recordw 18813935 |
773 | 0 8 | i Värdpublikationt PLoS ONEg 11 7x 1932-6203 |
856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-126788 |
856 | 4 0 | u http://dx.doi.org/10.1371/journal.pone.0158801 |
856 | 4 0 | u http://umu.diva-portal.org/smash/get/diva2:1048726/FULLTEXT01 |
910 | 2 s | 6 710a Umeå universitet.b Medicinsk-odontologiska fakultetenu Umeå universitet.b Medicinska fakulteten |
910 | 2 s | 6 710a Medicinska fakulteten vid Umeå universitetu Umeå universitet.b Medicinska fakulteten |
841 | 5 APISa x ab 161208||0000|||||001||||||000000e 1 | |
024 | 7 | 5 APISa urn:nbn:se:umu:diva-1267882 urn |
852 | 5 APISb APIS | |
856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-126788 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
Kopiera och spara länken för att återkomma till aktuell vy