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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 11710naa a22029053a 4500 | |
| 001 | 19659920 | |
| 003 | SE-LIBR | |
| 005 | 20160906165702.0 | |
| 007 | cr|||||||||||| | |
| 008 | 160906s2015 sw |||| o |||| ||eng c | |
| 024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1065742 uri |
| 024 | 7 | a urn:nbn:se:umu:diva-1065742 urn |
| 024 | 7 | a 10.1186/s13058-015-0567-22 doi |
| 040 | a S | |
| 041 | 0 | a eng |
| 042 | 9 EPLK | |
| 100 | 1 | a Blein, Sophie4 aut |
| 245 | 1 0 | a An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersh [Elektronisk resurs] |
| 260 | c 2015 | |
| 500 | a Published | |
| 506 | 0 | a gratis |
| 520 | a Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. | |
| 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 Bardel, Claire4 aut |
| 700 | 1 | a Danjean, Vincent4 aut |
| 700 | 1 | a McGuffog, Lesley4 aut |
| 700 | 1 | a Healey, Sue4 aut |
| 700 | 1 | a Barrowdale, Daniel4 aut |
| 700 | 1 | a Lee, Andrew4 aut |
| 700 | 1 | a Dennis, Joe4 aut |
| 700 | 1 | a Kuchenbaecker, Karoline B.4 aut |
| 700 | 1 | a Soucy, Penny4 aut |
| 700 | 1 | a Terry, Mary Beth4 aut |
| 700 | 1 | a Chung, Wendy K.4 aut |
| 700 | 1 | a Goldgar, David E.4 aut |
| 700 | 1 | a Buys, Saundra S.4 aut |
| 700 | 1 | a Janavicius, Ramunas4 aut |
| 700 | 1 | a Tihomirova, Laima4 aut |
| 700 | 1 | a Tung, Nadine4 aut |
| 700 | 1 | a Dorfling, Cecilia M.4 aut |
| 700 | 1 | a van Rensburg, Elizabeth J.4 aut |
| 700 | 1 | a Neuhausen, Susan L.4 aut |
| 700 | 1 | a Ding, Yuan Chun4 aut |
| 700 | 1 | a Gerdes, Anne-Marie4 aut |
| 700 | 1 | a Ejlertsen, Bent4 aut |
| 700 | 1 | a Nielsen, Finn C.4 aut |
| 700 | 1 | a Hansen, Thomas V. O.4 aut |
| 700 | 1 | a Osorio, Ana4 aut |
| 700 | 1 | a Benitez, Javier4 aut |
| 700 | 1 | a Andres Conejero, Raquel4 aut |
| 700 | 1 | a Segota, Ena4 aut |
| 700 | 1 | a Weitzel, Jeffrey N.4 aut |
| 700 | 1 | a Thelander, Margo4 aut |
| 700 | 1 | a Peterlongo, Paolo4 aut |
| 700 | 1 | a Radice, Paolo4 aut |
| 700 | 1 | a Pensotti, Valeria4 aut |
| 700 | 1 | a Dolcetti, Riccardo4 aut |
| 700 | 1 | a Bonanni, Bernardo4 aut |
| 700 | 1 | a Peissel, Bernard4 aut |
| 700 | 1 | a Zaffaroni, Daniela4 aut |
| 700 | 1 | a Scuvera, Giulietta4 aut |
| 700 | 1 | a Manoukian, Siranoush4 aut |
| 700 | 1 | a Varesco, Liliana4 aut |
| 700 | 1 | a Capone, Gabriele L.4 aut |
| 700 | 1 | a Papi, Laura4 aut |
| 700 | 1 | a Ottini, Laura4 aut |
| 700 | 1 | a Yannoukakos, Drakoulis4 aut |
| 700 | 1 | a Konstantopoulou, Irene4 aut |
| 700 | 1 | a Garber, Judy4 aut |
| 700 | 1 | a Hamann, Ute4 aut |
| 700 | 1 | a Donaldson, Alan4 aut |
| 700 | 1 | a Brady, Angela4 aut |
| 700 | 1 | a Brewer, Carole4 aut |
| 700 | 1 | a Foo, Claire4 aut |
| 700 | 1 | a Evans, D. Gareth4 aut |
| 700 | 1 | a Frost, Debra4 aut |
| 700 | 1 | a Eccles, Diana4 aut |
| 700 | 1 | a Douglas, Fiona4 aut |
| 700 | 1 | a Cook, Jackie4 aut |
| 700 | 1 | a Adlard, Julian4 aut |
| 700 | 1 | a Barwell, Julian4 aut |
| 700 | 1 | a Walker, Lisa4 aut |
| 700 | 1 | a Izatt, Louise4 aut |
| 700 | 1 | a Side, Lucy E.4 aut |
| 700 | 1 | a Kennedy, M. John4 aut |
| 700 | 1 | a Tischkowitz, Marc4 aut |
| 700 | 1 | a Rogers, Mark T.4 aut |
| 700 | 1 | a Porteous, Mary E.4 aut |
| 700 | 1 | a Morrison, Patrick J.4 aut |
| 700 | 1 | a Platte, Radka4 aut |
| 700 | 1 | a Eeles, Ros4 aut |
| 700 | 1 | a Davidson, Rosemarie4 aut |
| 700 | 1 | a Hodgson, Shirley4 aut |
| 700 | 1 | a Cole, Trevor4 aut |
| 700 | 1 | a Godwin, Andrew K.4 aut |
| 700 | 1 | a Isaacs, Claudine4 aut |
| 700 | 1 | a Claes, Kathleen4 aut |
| 700 | 1 | a De Leeneer, Kim4 aut |
| 700 | 1 | a Meindl, Alfons4 aut |
| 700 | 1 | a Gehrig, Andrea4 aut |
| 700 | 1 | a Wappenschmidt, Barbara4 aut |
| 700 | 1 | a Sutter, Christian4 aut |
| 700 | 1 | a Engel, Christoph4 aut |
| 700 | 1 | a Niederacher, Dieter4 aut |
| 700 | 1 | a Steinemann, Doris4 aut |
| 700 | 1 | a Plendl, Hansjoerg4 aut |
| 700 | 1 | a Kast, Karin4 aut |
| 700 | 1 | a Rhiem, Kerstin4 aut |
| 700 | 1 | a Ditsch, Nina4 aut |
| 700 | 1 | a Arnold, Norbert4 aut |
| 700 | 1 | a Varon-Mateeva, Raymonda4 aut |
| 700 | 1 | a Schmutzler, Rita K.4 aut |
| 700 | 1 | a Preisler-Adams, Sabine4 aut |
| 700 | 1 | a Markov, Nadja Bogdanova4 aut |
| 700 | 1 | a Wang-Gohrke, Shan4 aut |
| 700 | 1 | a de Pauw, Antoine4 aut |
| 700 | 1 | a Lefol, Cedrick4 aut |
| 700 | 1 | a Lasset, Christine4 aut |
| 700 | 1 | a Leroux, Dominique4 aut |
| 700 | 1 | a Rouleau, Etienne4 aut |
| 700 | 1 | a Damiola, Francesca4 aut |
| 700 | 1 | a Dreyfus, Helene4 aut |
| 700 | 1 | a Barjhoux, Laure4 aut |
| 700 | 1 | a Golmard, Lisa4 aut |
| 700 | 1 | a Uhrhammer, Nancy4 aut |
| 700 | 1 | a Bonadona, Valerie4 aut |
| 700 | 1 | a Sornin, Valerie4 aut |
| 700 | 1 | a Bignon, Yves-Jean4 aut |
| 700 | 1 | a Carter, Jonathan4 aut |
| 700 | 1 | a Van Le, Linda4 aut |
| 700 | 1 | a Piedmonte, Marion4 aut |
| 700 | 1 | a DiSilvestro, Paul A.4 aut |
| 700 | 1 | a de la Hoya, Miguel4 aut |
| 700 | 1 | a Caldes, Trinidad4 aut |
| 700 | 1 | a Nevanlinna, Heli4 aut |
| 700 | 1 | a Aittomaki, Kristiina4 aut |
| 700 | 1 | a Jager, Agnes4 aut |
| 700 | 1 | a van den Ouweland, Ans M. W.4 aut |
| 700 | 1 | a Kets, Carolien M.4 aut |
| 700 | 1 | a Aalfs, Cora M.4 aut |
| 700 | 1 | a van Leeuwen, Flora E.4 aut |
| 700 | 1 | a Hogervorst, Frans B. L.4 aut |
| 700 | 1 | a Meijers-Heijboer, Hanne E. J.4 aut |
| 700 | 1 | a Oosterwijk, Jan C.4 aut |
| 700 | 1 | a van Roozendaal, Kees E. P.4 aut |
| 700 | 1 | a Rookus, Matti A.4 aut |
| 700 | 1 | a Devilee, Peter4 aut |
| 700 | 1 | a van der Luijt, Rob B.4 aut |
| 700 | 1 | a Olah, Edith4 aut |
| 700 | 1 | a Diez, Orland4 aut |
| 700 | 1 | a Teule, Alex4 aut |
| 700 | 1 | a Lazaro, Conxi4 aut |
| 700 | 1 | a Blanco, Ignacio4 aut |
| 700 | 1 | a Del Valle, Jesus4 aut |
| 700 | 1 | a Jakubowska, Anna4 aut |
| 700 | 1 | a Sukiennicki, Grzegorz4 aut |
| 700 | 1 | a Gronwald, Jacek4 aut |
| 700 | 1 | a Lubinski, Jan4 aut |
| 700 | 1 | a Durda, Katarzyna4 aut |
| 700 | 1 | a Jaworska-Bieniek, Katarzyna4 aut |
| 700 | 1 | a Agnarsson, Bjarni A.4 aut |
| 700 | 1 | a Maugard, Christine4 aut |
| 700 | 1 | a Amadori, Alberto4 aut |
| 700 | 1 | a Montagna, Marco4 aut |
| 700 | 1 | a Teixeira, Manuel R.4 aut |
| 700 | 1 | a Spurdle, Amanda B.4 aut |
| 700 | 1 | a Foulkes, William4 aut |
| 700 | 1 | a Olswold, Curtis4 aut |
| 700 | 1 | a Lindor, Noralane M.4 aut |
| 700 | 1 | a Pankratz, Vernon S.4 aut |
| 700 | 1 | a Szabo, Csilla I.4 aut |
| 700 | 1 | a Lincoln, Anne4 aut |
| 700 | 1 | a Jacobs, Lauren4 aut |
| 700 | 1 | a Corines, Marina4 aut |
| 700 | 1 | a Robson, Mark4 aut |
| 700 | 1 | a Vijai, Joseph4 aut |
| 700 | 1 | a Berger, Andreas4 aut |
| 700 | 1 | a Fink-Retter, Anneliese4 aut |
| 700 | 1 | a Singer, Christian F.4 aut |
| 700 | 1 | a Rappaport, Christine4 aut |
| 700 | 1 | a Kaulich, Daphne Geschwantler4 aut |
| 700 | 1 | a Pfeiler, Georg4 aut |
| 700 | 1 | a Tea, Muy-Kheng4 aut |
| 700 | 1 | a Greene, Mark H.4 aut |
| 700 | 1 | a Mai, Phuong L.4 aut |
| 700 | 1 | a Rennert, Gad4 aut |
| 700 | 1 | a Imyanitov, Evgeny N.4 aut |
| 700 | 1 | a Mulligan, Anna Marie4 aut |
| 700 | 1 | a Glendon, Gord4 aut |
| 700 | 1 | a Andrulis, Irene L.4 aut |
| 700 | 1 | a Tchatchou, Sandrine4 aut |
| 700 | 1 | a Toland, Amanda Ewart4 aut |
| 700 | 1 | a Pedersen, Inge Sokilde4 aut |
| 700 | 1 | a Thomassen, Mads4 aut |
| 700 | 1 | a Kruse, Torben A.4 aut |
| 700 | 1 | a Jensen, Uffe Birk4 aut |
| 700 | 1 | a Caligo, Maria A.4 aut |
| 700 | 1 | a Friedman, Eitan4 aut |
| 700 | 1 | a Zidan, Jamal4 aut |
| 700 | 1 | a Laitman, Yael4 aut |
| 700 | 1 | a Lindblom, Annika4 aut |
| 700 | 1 | a Melin, Beatrice4 aut |
| 700 | 1 | a Arver, Brita4 aut |
| 700 | 1 | a Loman, Niklas4 aut |
| 700 | 1 | a Rosenquist, Richard4 aut |
| 700 | 1 | a Olopade, Olufunmilayo I.4 aut |
| 700 | 1 | a Nussbaum, Robert L.4 aut |
| 700 | 1 | a Ramus, Susan J.4 aut |
| 700 | 1 | a Nathanson, Katherine L.4 aut |
| 700 | 1 | a Domchek, Susan M.4 aut |
| 700 | 1 | a Rebbeck, Timothy R.4 aut |
| 700 | 1 | a Arun, Banu K.4 aut |
| 700 | 1 | a Mitchell, Gillian4 aut |
| 700 | 1 | a Karlan, Beth Y.4 aut |
| 700 | 1 | a Lester, Jenny4 aut |
| 700 | 1 | a Orsulic, Sandra4 aut |
| 700 | 1 | a Stoppa-Lyonnet, Dominique4 aut |
| 700 | 1 | a Thomas, Gilles4 aut |
| 700 | 1 | a Simard, Jacques4 aut |
| 700 | 1 | a Couch, Fergus J.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 |
| 700 | 1 | a Mazoyer, Sylvie4 aut |
| 700 | 1 | a Phelan, Catherine M.4 aut |
| 700 | 1 | a Sinilnikova, Olga M.4 aut |
| 700 | 1 | a Cox, David G.4 aut |
| 710 | 1 | a Umeå universitetb Medicinska fakulteten4 pbl0 268483 |
| 772 | 1 8 | i channel recordw 18813935 |
| 773 | 0 | i Värdpublikationt Breast Cancer Researchg 17x 1465-542X |
| 856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-106574 |
| 856 | 4 0 | u http://dx.doi.org/10.1186/s13058-015-0567-2 |
| 856 | 4 0 | u http://umu.diva-portal.org/smash/get/diva2:842383/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 160906||0000|||||001||||||000000e 1 | |
| 024 | 7 | 5 APISa urn:nbn:se:umu:diva-1065742 urn |
| 852 | 5 APISb APIS | |
| 856 | 4 0 | 5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-106574 |
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