2024-03-29T04:50:23Zhttp://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
00925njm 22002777a 4500
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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
author
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
author
Garber, Judy
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Ellis, Steve
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Frost, Debra
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Platte, Radka
author
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
author
Ditsch, Nina
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Arnold, Norbert
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Plendl, Hans Jörg
author
Niederacher, Dieter
author
Sutter, Christian
author
Wang-Gohrke, Shan
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Steinemann, Doris
author
Preisler-Adams, Sabine
author
Kast, Karin
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Varon-Mateeva, Raymonda
author
Gehrig, Andrea
author
Stoppa-Lyonnet, Dominique
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Sinilnikova, Olga M
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Mazoyer, Sylvie
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Damiola, Francesca
author
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
author
Brewster, Wendy
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Wakeley, Katie
author
Rutherford, Thomas
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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
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Collée, J Margriet
author
van Deurzen, Carolien H M
author
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
author
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
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Olswold, Curtis
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Guidugli, Lucia
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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
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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
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Thomassen, Mads
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Kruse, Torben A
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Jensen, Uffe Birk
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Friedman, Eitan
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Laitman, Yael
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Shimon, Shani Paluch
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Simard, Jacques
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Easton, Douglas F
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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
author
2014
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.
PLoS Genet . 2014 ;10(4):e1004256.
http://hdl.handle.net/20.500.12105/11412
24698998
10.1371/journal.pgen.1004256
PLoS genetics
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.