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DNA Glycosylases In...
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
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Osorio, Ana (author)
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Milne, Roger L (author)
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Kuchenbaecker, Karoline (author)
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show more...
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Vaclová, Tereza (author)
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Pita, Guillermo (author)
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Alonso, Rosario (author)
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Peterlongo, Paolo (author)
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Blanco, Ignacio (author)
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de la Hoya, Miguel (author)
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Duran, Mercedes (author)
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Díez, Orland (author)
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Ramón Y Cajal, Teresa (author)
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Konstantopoulou, Irene (author)
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Martínez-Bouzas, Cristina (author)
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Andrés Conejero, Raquel (author)
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Soucy, Penny (author)
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McGuffog, Lesley (author)
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Barrowdale, Daniel (author)
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Lee, Andrew (author)
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Swe-Brca, Swe-Brca (author)
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- Arver, Brita (author)
- Karolinska Institutet
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- Rantala, Johanna (author)
- Karolinska Institutet
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- Loman, Niklas (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Ehrencrona, Hans (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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Olopade, Olufunmilayo I (author)
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Beattie, Mary S (author)
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Domchek, Susan M (author)
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Nathanson, Katherine (author)
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Rebbeck, Timothy R (author)
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Arun, Banu K (author)
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Karlan, Beth Y (author)
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Walsh, Christine (author)
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Lester, Jenny (author)
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John, Esther M (author)
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Whittemore, Alice S (author)
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Daly, Mary B (author)
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Southey, Melissa (author)
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Hopper, John (author)
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Terry, Mary B (author)
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Buys, Saundra S (author)
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Janavicius, Ramunas (author)
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Dorfling, Cecilia M (author)
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van Rensburg, Elizabeth J (author)
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Steele, Linda (author)
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Neuhausen, Susan L (author)
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Ding, Yuan Chun (author)
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Hansen, Thomas V O (author)
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Jønson, Lars (author)
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Ejlertsen, Bent (author)
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Gerdes, Anne-Marie (author)
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Infante, Mar (author)
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Herráez, Belén (author)
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Moreno, Leticia Thais (author)
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Weitzel, Jeffrey N (author)
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Herzog, Josef (author)
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Weeman, Kisa (author)
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Manoukian, Siranoush (author)
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Peissel, Bernard (author)
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Zaffaroni, Daniela (author)
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Scuvera, Giulietta (author)
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Bonanni, Bernardo (author)
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Mariette, Frederique (author)
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Volorio, Sara (author)
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Viel, Alessandra (author)
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Varesco, Liliana (author)
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Papi, Laura (author)
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Ottini, Laura (author)
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Tibiletti, Maria Grazia (author)
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Radice, Paolo (author)
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Yannoukakos, Drakoulis (author)
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Garber, Judy (author)
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Ellis, Steve (author)
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Frost, Debra (author)
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Platte, Radka (author)
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Fineberg, Elena (author)
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Evans, Gareth (author)
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Lalloo, Fiona (author)
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Izatt, Louise (author)
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Eeles, Ros (author)
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Adlard, Julian (author)
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Davidson, Rosemarie (author)
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Cole, Trevor (author)
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Eccles, Diana (author)
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Cook, Jackie (author)
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Hodgson, Shirley (author)
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Brewer, Carole (author)
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Tischkowitz, Marc (author)
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Douglas, Fiona (author)
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Porteous, Mary (author)
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Side, Lucy (author)
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Walker, Lisa (author)
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Morrison, Patrick (author)
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Donaldson, Alan (author)
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Kennedy, John (author)
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Foo, Claire (author)
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Godwin, Andrew K (author)
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Schmutzler, Rita Katharina (author)
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Wappenschmidt, Barbara (author)
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Rhiem, Kerstin (author)
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Engel, Christoph (author)
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Meindl, Alfons (author)
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Ditsch, Nina (author)
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Arnold, Norbert (author)
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Plendl, Hans Jörg (author)
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Niederacher, Dieter (author)
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Sutter, Christian (author)
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Wang-Gohrke, Shan (author)
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Steinemann, Doris (author)
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Preisler-Adams, Sabine (author)
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Kast, Karin (author)
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Varon-Mateeva, Raymonda (author)
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Gehrig, Andrea (author)
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Stoppa-Lyonnet, Dominique (author)
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Sinilnikova, Olga M (author)
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Mazoyer, Sylvie (author)
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Damiola, Francesca (author)
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Poppe, Bruce (author)
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Claes, Kathleen (author)
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Piedmonte, Marion (author)
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Tucker, Kathy (author)
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Backes, Floor (author)
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Rodríguez, Gustavo (author)
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Brewster, Wendy (author)
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Wakeley, Katie (author)
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Rutherford, Thomas (author)
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Caldés, Trinidad (author)
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Nevanlinna, Heli (author)
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Aittomäki, Kristiina (author)
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Rookus, Matti A (author)
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van Os, Theo A M (author)
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van der Kolk, Lizet (author)
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de Lange, J L (author)
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Meijers-Heijboer, Hanne E J (author)
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van der Hout, A H (author)
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van Asperen, Christi J (author)
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Gómez Garcia, Encarna B (author)
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Hoogerbrugge, Nicoline (author)
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Collée, J Margriet (author)
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van Deurzen, Carolien H M (author)
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van der Luijt, Rob B (author)
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Devilee, Peter (author)
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Hebon, Hebon (author)
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Olah, Edith (author)
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Lázaro, Conxi (author)
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Teulé, Alex (author)
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Menéndez, Mireia (author)
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Jakubowska, Anna (author)
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Cybulski, Cezary (author)
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Gronwald, Jacek (author)
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Lubinski, Jan (author)
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Durda, Katarzyna (author)
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Jaworska-Bieniek, Katarzyna (author)
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Johannsson, Oskar Th (author)
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Maugard, Christine (author)
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Montagna, Marco (author)
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Tognazzo, Silvia (author)
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Teixeira, Manuel R (author)
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Healey, Sue (author)
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Investigators, Kconfab (author)
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Olswold, Curtis (author)
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Guidugli, Lucia (author)
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Lindor, Noralane (author)
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Slager, Susan (author)
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Szabo, Csilla I (author)
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Vijai, Joseph (author)
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Robson, Mark (author)
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Kauff, Noah (author)
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Zhang, Liying (author)
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Rau-Murthy, Rohini (author)
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Fink-Retter, Anneliese (author)
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Singer, Christian F (author)
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Rappaport, Christine (author)
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Geschwantler Kaulich, Daphne (author)
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Pfeiler, Georg (author)
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Tea, Muy-Kheng (author)
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Berger, Andreas (author)
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Phelan, Catherine M (author)
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Greene, Mark H (author)
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Mai, Phuong L (author)
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Lejbkowicz, Flavio (author)
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Andrulis, Irene (author)
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Mulligan, Anna Marie (author)
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Glendon, Gord (author)
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Toland, Amanda Ewart (author)
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Bojesen, Anders (author)
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Pedersen, Inge Sokilde (author)
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Sunde, Lone (author)
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Thomassen, Mads (author)
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Kruse, Torben A (author)
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Jensen, Uffe Birk (author)
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Friedman, Eitan (author)
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Laitman, Yael (author)
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Shimon, Shani Paluch (author)
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Simard, Jacques (author)
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Easton, Douglas F (author)
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Offit, Kenneth (author)
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Couch, Fergus J (author)
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Chenevix-Trench, Georgia (author)
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Antoniou, Antonis C (author)
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Benitez, Javier (author)
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(creator_code:org_t)
- 2014-04-03
- 2014
- English.
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In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:4
- Related links:
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http://www.ncbi.nlm.... (free)
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http://dx.doi.org/10... (free)
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https://journals.plo...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Subject headings
Close
- Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10-3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Osorio, Ana
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Milne, Roger L
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Kuchenbaecker, K ...
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Vaclová, Tereza
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Pita, Guillermo
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Alonso, Rosario
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Peterlongo, Paol ...
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Blanco, Ignacio
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de la Hoya, Migu ...
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Duran, Mercedes
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Díez, Orland
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Ramón Y Cajal, T ...
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Konstantopoulou, ...
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Martínez-Bouzas, ...
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Andrés Conejero, ...
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Soucy, Penny
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McGuffog, Lesley
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Barrowdale, Dani ...
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Lee, Andrew
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Swe-Brca, Swe-Br ...
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Arver, Brita
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Rantala, Johanna
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Loman, Niklas
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Ehrencrona, Hans
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Olopade, Olufunm ...
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Beattie, Mary S
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Domchek, Susan M
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Nathanson, Kathe ...
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Rebbeck, Timothy ...
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Arun, Banu K
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Karlan, Beth Y
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Walsh, Christine
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Lester, Jenny
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John, Esther M
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Whittemore, Alic ...
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Daly, Mary B
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Southey, Melissa
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Hopper, John
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Terry, Mary B
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Buys, Saundra S
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Janavicius, Ramu ...
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Dorfling, Cecili ...
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van Rensburg, El ...
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Steele, Linda
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Neuhausen, Susan ...
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Ding, Yuan Chun
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Hansen, Thomas V ...
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Jønson, Lars
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Ejlertsen, Bent
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Gerdes, Anne-Mar ...
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Infante, Mar
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Herráez, Belén
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Moreno, Leticia ...
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Weitzel, Jeffrey ...
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Herzog, Josef
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Weeman, Kisa
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Manoukian, Siran ...
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Peissel, Bernard
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Zaffaroni, Danie ...
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Scuvera, Giuliet ...
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Bonanni, Bernard ...
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Mariette, Freder ...
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Volorio, Sara
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Viel, Alessandra
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Varesco, Liliana
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Papi, Laura
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Ottini, Laura
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Tibiletti, Maria ...
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Radice, Paolo
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Yannoukakos, Dra ...
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Garber, Judy
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Ellis, Steve
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Frost, Debra
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Platte, Radka
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Fineberg, Elena
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Evans, Gareth
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Lalloo, Fiona
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Izatt, Louise
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Eeles, Ros
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Adlard, Julian
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Davidson, Rosema ...
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Cole, Trevor
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Eccles, Diana
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Cook, Jackie
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Hodgson, Shirley
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Brewer, Carole
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Tischkowitz, Mar ...
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Douglas, Fiona
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Porteous, Mary
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Side, Lucy
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Walker, Lisa
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Morrison, Patric ...
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Donaldson, Alan
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Kennedy, John
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Foo, Claire
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Godwin, Andrew K
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Schmutzler, Rita ...
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Wappenschmidt, B ...
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Rhiem, Kerstin
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Engel, Christoph
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Meindl, Alfons
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Ditsch, Nina
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Arnold, Norbert
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Plendl, Hans Jör ...
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Niederacher, Die ...
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Sutter, Christia ...
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Wang-Gohrke, Sha ...
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Steinemann, Dori ...
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Preisler-Adams, ...
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Kast, Karin
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Varon-Mateeva, R ...
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Gehrig, Andrea
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Stoppa-Lyonnet, ...
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Sinilnikova, Olg ...
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Mazoyer, Sylvie
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Damiola, Frances ...
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Poppe, Bruce
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Claes, Kathleen
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Piedmonte, Mario ...
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Tucker, Kathy
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Backes, Floor
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Rodríguez, Gusta ...
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Brewster, Wendy
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Wakeley, Katie
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Rutherford, Thom ...
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Caldés, Trinidad
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Nevanlinna, Heli
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Aittomäki, Krist ...
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Rookus, Matti A
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van Os, Theo A M
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van der Kolk, Li ...
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de Lange, J L
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Meijers-Heijboer ...
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van der Hout, A ...
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van Asperen, Chr ...
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Gómez Garcia, En ...
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Hoogerbrugge, Ni ...
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Collée, J Margri ...
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van Deurzen, Car ...
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van der Luijt, R ...
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Devilee, Peter
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Hebon, Hebon
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Olah, Edith
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Lázaro, Conxi
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Teulé, Alex
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Menéndez, Mireia
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Jakubowska, Anna
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Cybulski, Cezary
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Gronwald, Jacek
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Lubinski, Jan
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Durda, Katarzyna
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Jaworska-Bieniek ...
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Johannsson, Oska ...
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Maugard, Christi ...
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Montagna, Marco
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Tognazzo, Silvia
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Teixeira, Manuel ...
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Healey, Sue
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Investigators, K ...
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Olswold, Curtis
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Guidugli, Lucia
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Lindor, Noralane
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Slager, Susan
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Szabo, Csilla I
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Vijai, Joseph
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Robson, Mark
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Kauff, Noah
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Zhang, Liying
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Rau-Murthy, Rohi ...
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Fink-Retter, Ann ...
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Singer, Christia ...
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Rappaport, Chris ...
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Geschwantler Kau ...
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Pfeiler, Georg
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Tea, Muy-Kheng
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Berger, Andreas
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Phelan, Catherin ...
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Greene, Mark H
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Mai, Phuong L
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Lejbkowicz, Flav ...
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Andrulis, Irene
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Mulligan, Anna M ...
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Glendon, Gord
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Toland, Amanda E ...
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Bojesen, Anders
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Pedersen, Inge S ...
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Sunde, Lone
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Thomassen, Mads
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Kruse, Torben A
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Jensen, Uffe Bir ...
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Friedman, Eitan
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Laitman, Yael
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Shimon, Shani Pa ...
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Simard, Jacques
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Easton, Douglas ...
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Offit, Kenneth
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Couch, Fergus J
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Chenevix-Trench, ...
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Antoniou, Antoni ...
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Benitez, Javier
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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PLoS Genetics
- By the university
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Lund University
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Karolinska Institutet