2024-03-29T13:42:30Zhttp://repisalud.isciii.es/oai/requestoai:repisalud.isciii.es:20.500.12105/114122023-10-05T08:48:02Zcom_20.500.12105_2174com_20.500.12105_2051com_20.500.12105_2173col_20.500.12105_2175
Repisalud
author
Milne, Roger L
author
Kuchenbaecker, Karoline B
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Vaclová, Tereza
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Pita, Guillermo
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Alonso, Rosario
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Peterlongo, Paolo
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Blanco, Ignacio
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de la Hoya, Miguel
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Duran, Mercedes
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Díez, Orland
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Ramón Y Cajal, Teresa
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Konstantopoulou, Irene
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Martínez-Bouzas, Cristina
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Andrés Conejero, Raquel
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Soucy, Penny
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McGuffog, Lesley
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Barrowdale, Daniel
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Lee, Andrew
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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, Olufunmilayo I
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Beattie, Mary S
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Domchek, Susan M
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Nathanson, Katherine
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Rebbeck, Timothy R
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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, Alice S
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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, Ramunas
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Dorfling, Cecilia M
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van Rensburg, Elizabeth J
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Steele, Linda
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Neuhausen, Susan L
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Ding, Yuan Chun
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Hansen, Thomas V O
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Jønson, Lars
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Ejlertsen, Bent
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Gerdes, Anne-Marie
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Infante, Mar
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Herráez, Belén
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Moreno, Leticia Thais
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Weitzel, Jeffrey N
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Herzog, Josef
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Weeman, Kisa
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Manoukian, Siranoush
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Peissel, Bernard
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Zaffaroni, Daniela
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Scuvera, Giulietta
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Bonanni, Bernardo
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Mariette, Frederique
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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 Grazia
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Radice, Paolo
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Yannoukakos, Drakoulis
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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, Rosemarie
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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, Marc
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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, Patrick
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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 Katharina
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Wappenschmidt, Barbara
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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 Jörg
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Niederacher, Dieter
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Sutter, Christian
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Wang-Gohrke, Shan
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Steinemann, Doris
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Preisler-Adams, Sabine
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Kast, Karin
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Varon-Mateeva, Raymonda
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Gehrig, Andrea
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Stoppa-Lyonnet, Dominique
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Sinilnikova, Olga M
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Mazoyer, Sylvie
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Damiola, Francesca
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Poppe, Bruce
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Claes, Kathleen
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Piedmonte, Marion
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Tucker, Kathy
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Backes, Floor
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Rodríguez, Gustavo
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Brewster, Wendy
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Wakeley, Katie
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Rutherford, Thomas
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Caldés, Trinidad
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Nevanlinna, Heli
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Aittomäki, Kristiina
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Rookus, Matti A
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van Os, Theo A M
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van der Kolk, Lizet
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de Lange, J L
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Meijers-Heijboer, Hanne E J
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van der Hout, A H
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van Asperen, Christi J
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Gómez Garcia, Encarna B
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Hoogerbrugge, Nicoline
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Collée, J Margriet
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van Deurzen, Carolien H M
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van der Luijt, Rob B
author
Devilee, Peter
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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
author
Gronwald, Jacek
author
Lubinski, Jan
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Durda, Katarzyna
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Jaworska-Bieniek, Katarzyna
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Johannsson, Oskar Th
author
Maugard, Christine
author
Montagna, Marco
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Tognazzo, Silvia
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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
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Tea, Muy-Kheng
author
Berger, Andreas
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Phelan, Catherine M
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Greene, Mark H
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Mai, Phuong L
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Lejbkowicz, Flavio
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Andrulis, Irene
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Mulligan, Anna Marie
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Glendon, Gord
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Toland, Amanda Ewart
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Bojesen, Anders
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Pedersen, Inge Sokilde
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Sunde, Lone
author
Thomassen, Mads
author
Kruse, Torben A
author
Jensen, Uffe Birk
author
Friedman, Eitan
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Laitman, Yael
author
Shimon, Shani Paluch
author
Simard, Jacques
author
Easton, Douglas F
author
Offit, Kenneth
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Couch, Fergus J
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Chenevix-Trench, Georgia
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Antoniou, Antonis C
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Osorio, Ana
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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
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