1. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Osario, Ana, Milne, Roger L., Kuchenbaecker, Karoline, Vaclova, Tereza, Pita, Guillermo, Alonso, Rosario, Peterlongo, Paolo, Blanco, Ignacio, De La Hoya, Miguel, Duran, Mercedes, Diez, Orland, Ramon Y Cajal, Teresa, Konstantopoulou, Irene, Martinez-Bouzas, Cristina, Soucy, Penny, Conejero, Raquel Andres, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans, Beattie, Mary S., Olopade, Olufunmilayo I., Domchek, Susan M., Nathanson, Katherine, Rebbeck, Timothy R., Arun, Banu K., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, John, Esther M., Whittemore, Alice S., Daly, Mary B., Southey, Melissa, Hopper, John, Terry, Mary Beth, Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., Van Rensburg, Elizabeth J., Steele, Linda, Neuhausen, Susan L., Ding, Yuan Chun, Hansen, Thomas V. O., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Infante, Mar, Herraez, Belen, Moreno, Leticia Thais, Weitzel, Jeffrey N., Herzog, Josef, Weeman, Kisa, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Bonanni, Bernardo, Mariette, Frederique, Volorio, Sara, Viel, Alessandra, Varesco, Liliana, Papi, Laura, Ottini, Laura, Tibiletti, Maria Grazia, Radice, Paolo, Yannoukakos, Drakoulis, Garber, Judy, Ellis, Steve, Frost, Debra, Platte, Radka, Fineberg, Elena, Evans, Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Eccles, Diana, Cook, Jackie, Hodgson, Shirley, Brewer, Carole, Tischkowitz, Marc, Douglas, Fiona, Porteous, Mary, Side, Lucy, Walker, Lisa, Morrison, Patrick, Donaldson, Alan, Kennedy, John, Foo, Claire, Godwin, Andrew K., Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hans Jorg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie, Damiola, Francesca, Poppe, Bruce, Tucker, Kathy, Piedmonte, Marion, Claes, Kathleen, Backes, Floor, Rodriguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldes, Trinidad, Nevanlinna, Heli, Aittomaki, Kristiina, Rookus, Matti A., Van Os, Theo A. M., Kolk, Lizet Van Der, De Lange, J. L., Meijers-Heijboer, Hanne E. J., Van Der Hout, A. H., Van Asperen, Christi J., Gomez Garcia, Encarna B., Hoogerbrugge, Nicoline, Collee, J. Margriet, Van Deurzen, Carolien H. M, Van Der Luijt, Rob B., Devilee, Peter, Olah, Edith, Lazaro, Conxi, Teule, Alex, Menendez, Mireia, Jakubowska, Anna, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Th. Johannson, Oskar, Maugard, Christine, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R., Healey, Sue, Olswald, Curtis, Guidugli, Lucia, Slager, Susan, Lindor, Noralane, Szabo, Csilla I., Vijai, Joseph, Kauff, Noah, Fink-Retter, Anneliese, Zhang, Liying, Rau-Murthy, Rohini, Robson, Mark, Rappaport, Christine, Singer, Christian F., Tea, Muy-Kheng, Kaulich, Daphne Geschwantler, Berger, Andreas, Pfeiler, Georg, Mai, Phuong L., Phelan, Catherine M., Lejbkowicz, Flavio, Greene, Mark H., Andrulis, Irene, Mulligan, Anna Marie, Glendon, Gord, Toland, Amanda Ewart, Bojeson, Anders, Pederson, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk, Friedman, Eitan, Laitman, Yael, Shimon, Shani Paluch, Simard, Jacques, Offit, Kenneth, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Benitez, Javier, and Couch, Fergus J.
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Cancer--Genetic aspects ,endocrine system diseases ,Cancer--Risk factors ,FOS: Biological sciences ,Genetics ,Single nucleotide polymorphisms ,skin and connective tissue diseases ,Biology ,3. Good health - Abstract
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