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Repisalud author Milne, Roger L author Kuchenbaecker, Karoline B author Vaclová, Tereza author Pita, Guillermo author Alonso, Rosario author Peterlongo, Paolo author Blanco, Ignacio author de la Hoya, Miguel author Duran, Mercedes author Díez, Orland author Ramón Y Cajal, Teresa author Konstantopoulou, Irene author Martínez-Bouzas, Cristina author Andrés Conejero, Raquel author Soucy, Penny author McGuffog, Lesley author Barrowdale, Daniel author Lee, Andrew author Arver, Brita author Rantala, Johanna author Loman, Niklas author Ehrencrona, Hans author Olopade, Olufunmilayo I author Beattie, Mary S author Domchek, Susan M author Nathanson, Katherine author Rebbeck, Timothy R author Arun, Banu K author Karlan, Beth Y author Walsh, Christine author Lester, Jenny author John, Esther M author Whittemore, Alice S author Daly, Mary B author Southey, Melissa author Hopper, John author Terry, Mary B author Buys, Saundra S author Janavicius, Ramunas author Dorfling, Cecilia M author van Rensburg, Elizabeth J author Steele, Linda author Neuhausen, Susan L author Ding, Yuan Chun author Hansen, Thomas V O author Jønson, Lars author Ejlertsen, Bent author Gerdes, Anne-Marie author Infante, Mar author Herráez, Belén author Moreno, Leticia Thais author Weitzel, Jeffrey N author Herzog, Josef author Weeman, Kisa author Manoukian, Siranoush author Peissel, Bernard author Zaffaroni, Daniela author Scuvera, Giulietta author Bonanni, Bernardo author Mariette, Frederique author Volorio, Sara author Viel, Alessandra author Varesco, Liliana author Papi, Laura author Ottini, Laura author Tibiletti, Maria Grazia author Radice, Paolo author Yannoukakos, Drakoulis author Garber, Judy author Ellis, Steve author Frost, Debra author Platte, Radka author Fineberg, Elena author Evans, Gareth author Lalloo, Fiona author Izatt, Louise author Eeles, Ros author Adlard, Julian author Davidson, Rosemarie author Cole, Trevor author Eccles, Diana author Cook, Jackie author Hodgson, Shirley author Brewer, Carole author Tischkowitz, Marc author Douglas, Fiona author Porteous, Mary author Side, Lucy author Walker, Lisa author Morrison, Patrick author Donaldson, Alan author Kennedy, John author Foo, Claire author Godwin, Andrew K author Schmutzler, Rita Katharina author Wappenschmidt, Barbara author Rhiem, Kerstin author Engel, Christoph author Meindl, Alfons author Ditsch, Nina author Arnold, Norbert author Plendl, Hans Jörg author Niederacher, Dieter author Sutter, Christian author Wang-Gohrke, Shan author Steinemann, Doris author Preisler-Adams, Sabine author Kast, Karin author Varon-Mateeva, Raymonda author Gehrig, Andrea author Stoppa-Lyonnet, Dominique author Sinilnikova, Olga M author Mazoyer, Sylvie author Damiola, Francesca author Poppe, Bruce author Claes, Kathleen author Piedmonte, Marion author Tucker, Kathy author Backes, Floor author Rodríguez, Gustavo author Brewster, Wendy author Wakeley, Katie author Rutherford, Thomas author Caldés, Trinidad author Nevanlinna, Heli author Aittomäki, Kristiina author Rookus, Matti A author van Os, Theo A M author van der Kolk, Lizet author de Lange, J L author Meijers-Heijboer, Hanne E J author van der Hout, A H author van Asperen, Christi J author Gómez Garcia, Encarna B author Hoogerbrugge, Nicoline author Collée, J Margriet author van Deurzen, Carolien H M author van der Luijt, Rob B author Devilee, Peter author Olah, Edith author Lázaro, Conxi author Teulé, Alex author Menéndez, Mireia author Jakubowska, Anna author Cybulski, Cezary author Gronwald, Jacek author Lubinski, Jan author Durda, Katarzyna author Jaworska-Bieniek, Katarzyna author Johannsson, Oskar Th author Maugard, Christine author Montagna, Marco author Tognazzo, Silvia author Teixeira, Manuel R author Healey, Sue author Olswold, Curtis author Guidugli, Lucia author Lindor, Noralane author Slager, Susan author Szabo, Csilla I author Vijai, Joseph author Robson, Mark author Kauff, Noah author Zhang, Liying author Rau-Murthy, Rohini author Fink-Retter, Anneliese author Singer, Christian F author Rappaport, Christine author Geschwantler Kaulich, Daphne author Pfeiler, Georg author Tea, Muy-Kheng author Berger, Andreas author Phelan, Catherine M author Greene, Mark H author Mai, Phuong L author Lejbkowicz, Flavio author Andrulis, Irene author Mulligan, Anna Marie author Glendon, Gord author Toland, Amanda Ewart author Bojesen, Anders author Pedersen, Inge Sokilde author Sunde, Lone author Thomassen, Mads author Kruse, Torben A author Jensen, Uffe Birk author Friedman, Eitan author Laitman, Yael author Shimon, Shani Paluch author Simard, Jacques author Easton, Douglas F author Offit, Kenneth author Couch, Fergus J author Chenevix-Trench, Georgia author Antoniou, Antonis C author Osorio, Ana author Benitez, Javier funder Fundación Mutua Madrileña funder Asociación Española Contra el Cáncer funder Instituto de Salud Carlos III funder Unión Europea funder Cancer Research UK (Reino Unido) funder United States Department of Health and Human Services funder Canadian Institutes of Health Research funder Susan G. Komen Breast Cancer Foundation funder Ralph and Marion Falk Medical Research Trust funder Research Council (Lituania) funder University of Kansas. Cancer Center (Estados Unidos) funder National Institute for Health Research (Reino Unido) funder Deutsche Krebshilfe funder Finlands Akademi (Finlandia) funder Dutch Cancer Society (Holanda) funder Dutch Research Council (Holanda) funder Pink Ribbons Project funder Hungarian Scientific Research Fund (Hungría) funder Canadian Breast Cancer Network funder Ministère du Développement économique, de Innovation et de Exportation (Canadá) funder Westat (Estados Unidos) 2020-11-24T10:45:03Z 2020-11-24T10:45:03Z 2014 PLoS Genet . 2014 ;10(4):e1004256. http://hdl.handle.net/20.500.12105/11412 24698998 10.1371/journal.pgen.1004256 PLoS genetics 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. eng DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. journal article TElDRU5DSUEgREUgRElTVFJJQlVDScOTTiBOTyBFWENMVVNJVkEKCkFjZXB0YW5kbyBlc3RhIGxpY2VuY2lhLCBVc3RlZCAoZWwgYXV0b3IvZXMgbyBlbCBwcm9waWV0YXJpby9zIGRlIGxvcyBkZXJlY2hvcyBkZSAKYXV0b3IpIGNvbmNlZGUgYSBSRVBJU0FMVUQgZWwgZGVyZWNobyBubyBleGNsdXNpdm8gZGUgcmVwcm9kdWNpciwgY29udmVydGlyLCB5L28gCmRpc3RyaWJ1aXIgc3UgZG9jdW1lbnRvIChpbmNsdXllbmRvIHN1IHJlc3VtZW4pIGEgbml2ZWwgbXVuZGlhbCBlbiBmb3JtYXRvIGRpZ2l0YWwsIAppbmNsdXllbmRvLCBhdWRpbyB5IHbDrWRlbywgYSB0cmF2w6lzIGRlIHN1IHJlcG9zaXRvcmlvIGluc3RpdHVjaW9uYWwuCgpVc3RlZCBhY2VwdGEgcXVlIFJFUElTQUxVRCBwdWVkZSwgc2luIGFsdGVyYXIgc3UgY29udGVuaWRvLCBjb252ZXJ0aXIgc3UgZG9jdW1lbnRvIAphIGN1YWxxdWllciBvdHJvIGZvcm1hdG8gZGlnaXRhbCBkZSBkYXRvcywgYXVkaW8geSB2aWRlbywgY29uIGVsIHByb3DDs3NpdG8gZGUgcXVlIApwdWVkYSBzZXIgYWxvamFkbyBlbiBlbCByZXBvc2l0b3Jpby4gCgpVc3RlZCBlc3TDoSBkZSBhY3VlcmRvIGNvbiBxdWUgUkVQSVNBTFVEIHB1ZWRhIGNvbnNlcnZhciBtw6FzIGRlIHVuYSBjb3BpYSBkZSBlc3RlIApkb2N1bWVudG8gcGFyYSBhc2VndXJhciBzdSBzZWd1cmlkYWQsIHByZXNlcnZhY2nDs24geSBhY2Nlc28uCgpVc3RlZCBkZWNsYXJhIHF1ZSBlbCBkb2N1bWVudG8gZXMgdW4gdHJhYmFqbyBvcmlnaW5hbCwgeSBxdWUgdGllbmUgZWwgZGVyZWNobyBkZSAKb3RvcmdhciBsb3MgZGVyZWNob3MgY29udGVuaWRvcyBlbiBlc3RhIGxpY2VuY2lhLiBUYW1iacOpbiBkZWNsYXJhIHF1ZSBzdSBwZXRpY2nDs24gCm5vIGluZnJpbmdlIGxvcyBkZXJlY2hvcyBkZSBhdXRvciBkZSBuYWRpZS4gCgpTaSBlbCBkb2N1bWVudG8gY29udGllbmUgbWF0ZXJpYWxlcyBwYXJhIGxvcyBxdWUgbm8gc2UgdGllbmVuIGxvcyBkZXJlY2hvcyBkZSBhdXRvciwgClVzdGVkIGRlY2xhcmEgcXVlIGhhIG9idGVuaWRvIGVsIHBlcm1pc28gc2luIHJlc3RyaWNjacOzbiBkZWwgcHJvcGlldGFyaW8gZGUgbG9zIApkZXJlY2hvcyB5IHF1ZSBlbiBkaWNobyBtYXRlcmlhbCwgZXN0w6EgY2xhcmFtZW50ZSBpZGVudGlmaWNhZGEgeSByZWNvbm9jaWRhIHN1IAphdXRvcsOtYSBkZW50cm8gZWwgdGV4dG8gbyBkZWwgY29udGVuaWRvIGRlIGRpY2hvIGRvY3VtZW50by4gCgpTaSBlbCBlbnbDrW8gc2UgYmFzYSBlbiB1biB0cmFiYWpvIHF1ZSBoYSBzaWRvIHBhdHJvY2luYWRvIG8gYXBveWFkbyBwb3IgdW5hIGFnZW5jaWEgCnUgb3JnYW5pemFjacOzbiBkaXN0aW50YSBhIFJFUElTQUxVRCwgdXN0ZWQgYWNlcHRhIHF1ZSBoYSBjdW1wbGlkbyBjb24gZWwgZGVyZWNobyBkZSAKcmV2aXNpw7NuIHkgb3RyYXMgb2JsaWdhY2lvbmVzIHJlcXVlcmlkYXMgcG9yIGNvbnRyYXRvIG8gYWN1ZXJkby4gCgpSRVBJU0FMVUQgaWRlbnRpZmljYXLDoSBjbGFyYW1lbnRlIHN1KHMpIG5vbWJyZShzKSBjb21vIGF1dG9yKHMpIG8gcHJvcGlldGFyaW8ocykgCmRlbCBkb2N1bWVudG8sIHkgbm8gaGFyw6EgbmluZ3VuYSBhbHRlcmFjacOzbiwgZXhjZXB0byBzZWfDum4gbG8gcGVybWl0aWRvIHBvciBlc3RhIApsaWNlbmNpYS4gCg== URL https://repisalud.isciii.es/bitstreams/023e8565-ea96-4137-bf73-2a855f9dba96/download File MD5 4bed85536ce82bea93477632d912a8d5 380514 application/pdf DNAglycosylasesinvolvedinbase_2014.pdf URL https://repisalud.isciii.es/bitstreams/4a24d093-b3f3-4098-aebf-6b9ffe258edf/download File MD5 a0144948f1ee21d9494c5106e6b109be 89088 application/vnd.ms-excel pgen.1004256.s002.xls URL https://repisalud.isciii.es/bitstreams/16316d19-842e-4c36-8f89-b9b901695c89/download File MD5 f42bf970785a889547d27d8d35e0a39e 1316864 application/vnd.ms-powerpoint pgen.1004256.s001.ppt URL https://repisalud.isciii.es/bitstreams/7c03fb79-4c5b-4ce4-960e-f1d2c2e7af33/download File MD5 1da547cfd0bcaab543f0c2f5425753b5 29696 application/vnd.ms-excel pgen.1004256.s003.xls URL https://repisalud.isciii.es/bitstreams/68b6e0c2-21b3-432c-8919-550f747ca3f7/download File MD5 da2df4616951168aa86a7599c132eb6b 87562 text/plain DNAglycosylasesinvolvedinbase_2014.pdf.txt URL https://repisalud.isciii.es/bitstreams/ae789139-4288-410f-b52a-2737d06332b7/download File MD5 7acbeab63ccb3733d3b2097c5ec0bcf4 227 text/plain pgen.1004256.s001.ppt.txt URL https://repisalud.isciii.es/bitstreams/ffafbb89-12d9-41f8-972f-5860644a4a11/download File MD5 a3cf915b657bb342676d7e2b0ac8ae40 11101 text/plain pgen.1004256.s002.xls.txt URL https://repisalud.isciii.es/bitstreams/db47d145-d032-4012-a983-56f0e327969f/download File MD5 49322e2af4bb17228b4f9b19578578fa 735 text/plain pgen.1004256.s003.xls.txt