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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 13364naa a22034093a 4500 | |
| 001 | 20187852 | |
| 003 | SE-LIBR | |
| 005 | 20170322173246.0 | |
| 007 | cr|||||||||||| | |
| 008 | 170322s2016 sw |||| o |||| ||eng c | |
| 024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3079742 uri |
| 024 | 7 | a urn:nbn:se:uu:diva-3079742 urn |
| 024 | 7 | a 10.1186/s13058-016-0718-02 doi |
| 040 | a S | |
| 041 | 0 | a eng |
| 042 | 9 EPLK | |
| 100 | 1 | a Zeng, Chenjie4 aut |
| 245 | 1 0 | a Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locush [Elektronisk resurs] |
| 260 | c 2016 | |
| 500 | a Published | |
| 500 | a EU, Europeiska forskningsrådet | |
| 500 | a Cancerfonden | |
| 500 | a NIH (National Institute of Health) | |
| 506 | 0 | a gratis |
| 520 | a Background: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. Results: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 x 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 x 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 x 10(-4)) identified in the general populations, and rs113824616 (P = 7 x 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. Conclusion: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk. | |
| 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 |
| 650 | 7 | a Basic Medicine2 hsv |
| 650 | 7 | a Medical Genetics2 hsv |
| 650 | 7 | a Medicinska grundvetenskaper2 hsv |
| 650 | 7 | a Medicinsk genetik2 hsv |
| 653 | 0 | a Fine-scale mapping |
| 653 | 0 | a Genetic risk factor |
| 653 | 0 | a PTHLH |
| 653 | 0 | a CCDC91 |
| 653 | 0 | a Breast cancer |
| 653 | 0 | a BRAC1 mutation carriers |
| 700 | 1 | a Guo, Xingyi4 aut |
| 700 | 1 | a Long, Jirong4 aut |
| 700 | 1 | a Kuchenbaecker, Karoline B.4 aut |
| 700 | 1 | a Droit, Arnaud4 aut |
| 700 | 1 | a Michailidou, Kyriaki4 aut |
| 700 | 1 | a Ghoussaini, Maya4 aut |
| 700 | 1 | a Kar, Siddhartha4 aut |
| 700 | 1 | a Freeman, Adam4 aut |
| 700 | 1 | a Hopper, John L.4 aut |
| 700 | 1 | a Milne, Roger L.4 aut |
| 700 | 1 | a Bolla, Manjeet K.4 aut |
| 700 | 1 | a Wang, Qin4 aut |
| 700 | 1 | a Dennis, Joe4 aut |
| 700 | 1 | a Agata, Simona4 aut |
| 700 | 1 | a Ahmed, Shahana4 aut |
| 700 | 1 | a Aittomaki, Kristiina4 aut |
| 700 | 1 | a Andrulis, Irene L.4 aut |
| 700 | 1 | a Anton-Culver, Hoda4 aut |
| 700 | 1 | a Antonenkova, Natalia N.4 aut |
| 700 | 1 | a Arason, Adalgeir4 aut |
| 700 | 1 | a Arndt, Volker4 aut |
| 700 | 1 | a Arun, Banu K.4 aut |
| 700 | 1 | a Arver, Brita4 aut |
| 700 | 1 | a Bacot, Francois4 aut |
| 700 | 1 | a Barrowdale, Daniel4 aut |
| 700 | 1 | a Baynes, Caroline4 aut |
| 700 | 1 | a Beeghly-Fadiel, Alicia4 aut |
| 700 | 1 | a Benitez, Javier4 aut |
| 700 | 1 | a Bermisheva, Marina4 aut |
| 700 | 1 | a Blomqvist, Carl4 aut |
| 700 | 1 | a Blot, William J.4 aut |
| 700 | 1 | a Bogdanova, Natalia V.4 aut |
| 700 | 1 | a Bojesen, Stig E.4 aut |
| 700 | 1 | a Bonanni, Bernardo4 aut |
| 700 | 1 | a Borresen-Dale, Anne-Lise4 aut |
| 700 | 1 | a Brand, Judith S.4 aut |
| 700 | 1 | a Brauch, Hiltrud4 aut |
| 700 | 1 | a Brennan, Paul4 aut |
| 700 | 1 | a Brenner, Hermann4 aut |
| 700 | 1 | a Broeks, Annegien4 aut |
| 700 | 1 | a Bruening, Thomas4 aut |
| 700 | 1 | a Burwinkel, Barbara4 aut |
| 700 | 1 | a Buys, Saundra S.4 aut |
| 700 | 1 | a Cai, Qiuyin4 aut |
| 700 | 1 | a Caldes, Trinidad4 aut |
| 700 | 1 | a Campbell, Ian4 aut |
| 700 | 1 | a Carpenter, Jane4 aut |
| 700 | 1 | a Chang-Claude, Jenny4 aut |
| 700 | 1 | a Choi, Ji-Yeob4 aut |
| 700 | 1 | a Claes, Kathleen B. M.4 aut |
| 700 | 1 | a Clarke, Christine4 aut |
| 700 | 1 | a Cox, Angela4 aut |
| 700 | 1 | a Cross, Simon S.4 aut |
| 700 | 1 | a Czene, Kamila4 aut |
| 700 | 1 | a Daly, Mary B.4 aut |
| 700 | 1 | a de la Hoya, Miguel4 aut |
| 700 | 1 | a De Leeneer, Kim4 aut |
| 700 | 1 | a Devilee, Peter4 aut |
| 700 | 1 | a Diez, Orland4 aut |
| 700 | 1 | a Domchek, Susan M.4 aut |
| 700 | 1 | a Doody, Michele4 aut |
| 700 | 1 | a Dorfling, Cecilia M.4 aut |
| 700 | 1 | a Doerk, Thilo4 aut |
| 700 | 1 | a dos-Santos-Silva, Isabel4 aut |
| 700 | 1 | a Dumont, Martine4 aut |
| 700 | 1 | a Dwek, Miriam4 aut |
| 700 | 1 | a Dworniczak, Bernd4 aut |
| 700 | 1 | a Egan, Kathleen4 aut |
| 700 | 1 | a Eilber, Ursula4 aut |
| 700 | 1 | a Einbeigi, Zakaria4 aut |
| 700 | 1 | a Ejlertsen, Bent4 aut |
| 700 | 1 | a Ellis, Steve4 aut |
| 700 | 1 | a Frost, Debra4 aut |
| 700 | 1 | a Lalloo, Fiona4 aut |
| 700 | 1 | a Fasching, Peter A.4 aut |
| 700 | 1 | a Figueroa, Jonine4 aut |
| 700 | 1 | a Flyger, Henrik4 aut |
| 700 | 1 | a Friedlander, Michael4 aut |
| 700 | 1 | a Friedman, Eitan4 aut |
| 700 | 1 | a Gambino, Gaetana4 aut |
| 700 | 1 | a Gao, Yu-Tang4 aut |
| 700 | 1 | a Garber, Judy4 aut |
| 700 | 1 | a Garcia-Closas, Montserrat4 aut |
| 700 | 1 | a Gehrig, Andrea4 aut |
| 700 | 1 | a Damiola, Francesca4 aut |
| 700 | 1 | a Lesueur, Fabienne4 aut |
| 700 | 1 | a Mazoyer, Sylvie4 aut |
| 700 | 1 | a Stoppa-Lyonnet, Dominique4 aut |
| 700 | 1 | a Giles, Graham G.4 aut |
| 700 | 1 | a Godwin, Andrew K.4 aut |
| 700 | 1 | a Goldgar, David E.4 aut |
| 700 | 1 | a Gonzalez-Neira, Anna4 aut |
| 700 | 1 | a Greene, Mark H.4 aut |
| 700 | 1 | a Guenel, Pascal4 aut |
| 700 | 1 | a Haeberle, Lothar4 aut |
| 700 | 1 | a Haiman, Christopher A.4 aut |
| 700 | 1 | a Hallberg, Emily4 aut |
| 700 | 1 | a Hamann, Ute4 aut |
| 700 | 1 | a Hansen, Thomas V. O.4 aut |
| 700 | 1 | a Hart, Steven4 aut |
| 700 | 1 | a Hartikainen, Jaana M.4 aut |
| 700 | 1 | a Hartman, Mikael4 aut |
| 700 | 1 | a Hassan, Norhashimah4 aut |
| 700 | 1 | a Healey, Sue4 aut |
| 700 | 1 | a Hogervorst, Frans B. L.4 aut |
| 700 | 1 | a Verhoef, Senno4 aut |
| 700 | 1 | a Hendricks, Carolyn B.4 aut |
| 700 | 1 | a Hillemanns, Peter4 aut |
| 700 | 1 | a Hollestelle, Antoinette4 aut |
| 700 | 1 | a Hulick, Peter J.4 aut |
| 700 | 1 | a Hunter, David J.4 aut |
| 700 | 1 | a Imyanitov, Evgeny N.4 aut |
| 700 | 1 | a Isaacs, Claudine4 aut |
| 700 | 1 | a Ito, Hidemi4 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 Beauparlant, Charles Joly4 aut |
| 700 | 1 | a Jones, Michael4 aut |
| 700 | 1 | a Kabisch, Maria4 aut |
| 700 | 1 | a Kang, Daehee4 aut |
| 700 | 1 | a Karlan, Beth Y.4 aut |
| 700 | 1 | a Kauppila, Saila4 aut |
| 700 | 1 | a Kerin, Michael J.4 aut |
| 700 | 1 | a Khan, Sofia4 aut |
| 700 | 1 | a Khusnutdinova, Elza4 aut |
| 700 | 1 | a Knight, Julia A.4 aut |
| 700 | 1 | a Konstantopoulou, Irene4 aut |
| 700 | 1 | a Kraft, Peter4 aut |
| 700 | 1 | a Kwong, Ava4 aut |
| 700 | 1 | a Laitman, Yael4 aut |
| 700 | 1 | a Lambrechts, Diether4 aut |
| 700 | 1 | a Lazaro, Conxi4 aut |
| 700 | 1 | a Le Marchand, Loic4 aut |
| 700 | 1 | a Lee, Chuen Neng4 aut |
| 700 | 1 | a Lee, Min Hyuk4 aut |
| 700 | 1 | a Lester, Jenny4 aut |
| 700 | 1 | a Li, Jingmei4 aut |
| 700 | 1 | a Liljegren, Annelie4 aut |
| 700 | 1 | a Lindblom, Annika4 aut |
| 700 | 1 | a Lophatananon, Artitaya4 aut |
| 700 | 1 | a Lubinski, Jan4 aut |
| 700 | 1 | a Mai, Phuong L.4 aut |
| 700 | 1 | a Mannermaa, Arto4 aut |
| 700 | 1 | a Manoukian, Siranoush4 aut |
| 700 | 1 | a Margolin, Sara4 aut |
| 700 | 1 | a Marme, Frederik4 aut |
| 700 | 1 | a Matsuo, Keitaro4 aut |
| 700 | 1 | a McGuffog, Lesley4 aut |
| 700 | 1 | a Meindl, Alfons4 aut |
| 700 | 1 | a Menegaux, Florence4 aut |
| 700 | 1 | a Montagna, Marco4 aut |
| 700 | 1 | a Muir, Kenneth4 aut |
| 700 | 1 | a Mulligan, Anna Marie4 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 Newcomb, Polly A.4 aut |
| 700 | 1 | a Nord, Silje4 aut |
| 700 | 1 | a Nussbaum, Robert L.4 aut |
| 700 | 1 | a Offit, Kenneth4 aut |
| 700 | 1 | a Olah, Edith4 aut |
| 700 | 1 | a Olopade, Olufunmilayo I.4 aut |
| 700 | 1 | a Olswold, Curtis4 aut |
| 700 | 1 | a Osorio, Ana4 aut |
| 700 | 1 | a Papi, Laura4 aut |
| 700 | 1 | a Park-Simon, Tjoung-Won4 aut |
| 700 | 1 | a Paulsson-Karlsson, Ylva4 aut |
| 700 | 1 | a Peeters, Stephanie4 aut |
| 700 | 1 | a Peissel, Bernard4 aut |
| 700 | 1 | a Peterlongo, Paolo4 aut |
| 700 | 1 | a Peto, Julian4 aut |
| 700 | 1 | a Pfeiler, Georg4 aut |
| 700 | 1 | a Phelan, Catherine M.4 aut |
| 700 | 1 | a Presneau, Nadege4 aut |
| 700 | 1 | a Radice, Paolo4 aut |
| 700 | 1 | a Rahman, Nazneen4 aut |
| 700 | 1 | a Ramus, Susan J.4 aut |
| 700 | 1 | a Rashid, Muhammad Usman4 aut |
| 700 | 1 | a Rennert, Gad4 aut |
| 700 | 1 | a Rhiem, Kerstin4 aut |
| 700 | 1 | a Rudolph, Anja4 aut |
| 700 | 1 | a Salani, Ritu4 aut |
| 700 | 1 | a Sangrajrang, Suleeporn4 aut |
| 700 | 1 | a Sawyer, Elinor J.4 aut |
| 700 | 1 | a Schmidt, Marjanka K.4 aut |
| 700 | 1 | a Schmutzler, Rita K.4 aut |
| 700 | 1 | a Schoemaker, Minouk J.4 aut |
| 700 | 1 | a Schuermann, Peter4 aut |
| 700 | 1 | a Seynaeve, Caroline4 aut |
| 700 | 1 | a Shen, Chen-Yang4 aut |
| 700 | 1 | a Shrubsole, Martha J.4 aut |
| 700 | 1 | a Shu, Xiao-Ou4 aut |
| 700 | 1 | a Sigurdson, Alice4 aut |
| 700 | 1 | a Singer, Christian F.4 aut |
| 700 | 1 | a Slager, Susan4 aut |
| 700 | 1 | a Soucy, Penny4 aut |
| 700 | 1 | a Southey, Melissa4 aut |
| 700 | 1 | a Steinemann, Doris4 aut |
| 700 | 1 | a Swerdlow, Anthony4 aut |
| 700 | 1 | a Szabo, Csilla I.4 aut |
| 700 | 1 | a Tchatchou, Sandrine4 aut |
| 700 | 1 | a Teixeira, Manuel R.4 aut |
| 700 | 1 | a Teo, Soo H.4 aut |
| 700 | 1 | a Terry, Mary Beth4 aut |
| 700 | 1 | a Tessier, Daniel C.4 aut |
| 700 | 1 | a Teule, Alex4 aut |
| 700 | 1 | a Thomassen, Mads4 aut |
| 700 | 1 | a Tihomirova, Laima4 aut |
| 700 | 1 | a Tischkowitz, Marc4 aut |
| 700 | 1 | a Toland, Amanda E.4 aut |
| 700 | 1 | a Tung, Nadine4 aut |
| 700 | 1 | a Turnbull, Clare4 aut |
| 700 | 1 | a van den Ouweland, Ans M. W.4 aut |
| 700 | 1 | a van Rensburg, Elizabeth J.4 aut |
| 700 | 1 | a ven den Berg, David4 aut |
| 700 | 1 | a Vijai, Joseph4 aut |
| 700 | 1 | a Wang-Gohrke, Shan4 aut |
| 700 | 1 | a Weitzel, Jeffrey N.4 aut |
| 700 | 1 | a Whittemore, Alice S.4 aut |
| 700 | 1 | a Winqvist, Robert4 aut |
| 700 | 1 | a Wong, Tien Y.4 aut |
| 700 | 1 | a Wu, Anna H.4 aut |
| 700 | 1 | a Yannoukakos, Drakoulis4 aut |
| 700 | 1 | a Yu, Jyh-Cherng4 aut |
| 700 | 1 | a Pharoah, Paul D. P.4 aut |
| 700 | 1 | a Hall, Per4 aut |
| 700 | 1 | a Chenevix-Trench, Georgia4 aut |
| 700 | 1 | a Dunning, Alison M.4 aut |
| 700 | 1 | a Simard, Jacques4 aut |
| 700 | 1 | a Couch, Fergus J.4 aut |
| 700 | 1 | a Antoniou, Antonis C.4 aut |
| 700 | 1 | a Easton, Douglas F.4 aut |
| 700 | 1 | a Zheng, Wei4 aut |
| 710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
| 772 | 1 8 | i channel recordw 19753896 |
| 773 | 0 8 | i Värdpublikationt Breast Cancer Researchg 18x 1465-5411 |
| 856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-307974 |
| 856 | 4 0 | u http://dx.doi.org/10.1186/s13058-016-0718-0 |
| 856 | 4 0 | u http://uu.diva-portal.org/smash/get/diva2:1049101/FULLTEXT01 |
| 841 | 5 APISa x ab 170322||0000|||||001||||||000000e 1 | |
| 024 | 7 | 5 APISa urn:nbn:se:uu:diva-3079742 urn |
| 852 | 5 APISb APIS | |
| 856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-307974 |
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- Guo, Xingyi
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- Ghoussaini, Maya
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