DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Osorio, 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, Conejero, Raquel Andres, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans, Olopade, Olufunmilayo I., Beattie, Mary S., 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 B., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Steele, Linda, Neuhausen, Susan L., Ding, Yuan Chun, Hansen, Thomas V. O., Jonson, 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 Joerg, 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, Claes, Kathleen, Piedmonte, Marion, Tucker, Kathy, Backes, Floor, Rodriguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldes, Trinidad, Nevanlinna, Heli, Aittomaki, Kristiina, Rookus, Matti A., van Os, Theo A. M., van der Kolk, Lizet, 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, Johannsson, Oskar Th, Maugard, Christine, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R., Healey, Sue, Olswold, Curtis, Guidugli, Lucia, Lindor, Noralane, Slager, Susan, Szabo, Csilla I., Vijai, Joseph, Robson, Mark, Kauff, Noah, Zhang, Liying, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Kaulich, Daphne Geschwantler, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Lejbkowicz, Flavio, Andrulis, Irene, Mulligan, Anna Marie, Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders, Pedersen, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk, Friedman, Eitan, Laitman, Yael, Shimon, Shani Paluch, Simard, Jacques, Easton, Douglas F., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Antoniou, Antonis C. and Benitez, Javier (2014) DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLoS Genetics, 10 4: . doi:10.1371/journal.pgen.1004256

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Author Osorio, 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
Conejero, Raquel Andres
Soucy, Penny
McGuffog, Lesley
Barrowdale, Daniel
Lee, Andrew
Arver, Brita
Rantala, Johanna
Loman, Niklas
Ehrencrona, Hans
Olopade, Olufunmilayo I.
Beattie, Mary S.
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 B.
Buys, Saundra S.
Janavicius, Ramunas
Dorfling, Cecilia M.
van Rensburg, Elizabeth J.
Steele, Linda
Neuhausen, Susan L.
Ding, Yuan Chun
Hansen, Thomas V. O.
Jonson, 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 Joerg
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
Claes, Kathleen
Piedmonte, Marion
Tucker, Kathy
Backes, Floor
Rodriguez, Gustavo
Brewster, Wendy
Wakeley, Katie
Rutherford, Thomas
Caldes, Trinidad
Nevanlinna, Heli
Aittomaki, Kristiina
Rookus, Matti A.
van Os, Theo A. M.
van der Kolk, Lizet
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
Johannsson, Oskar Th
Maugard, Christine
Montagna, Marco
Tognazzo, Silvia
Teixeira, Manuel R.
Healey, Sue
Olswold, Curtis
Guidugli, Lucia
Lindor, Noralane
Slager, Susan
Szabo, Csilla I.
Vijai, Joseph
Robson, Mark
Kauff, Noah
Zhang, Liying
Rau-Murthy, Rohini
Fink-Retter, Anneliese
Singer, Christian F.
Rappaport, Christine
Kaulich, Daphne Geschwantler
Pfeiler, Georg
Tea, Muy-Kheng
Berger, Andreas
Phelan, Catherine M.
Greene, Mark H.
Mai, Phuong L.
Lejbkowicz, Flavio
Andrulis, Irene
Mulligan, Anna Marie
Glendon, Gord
Toland, Amanda Ewart
Bojesen, Anders
Pedersen, Inge Sokilde
Sunde, Lone
Thomassen, Mads
Kruse, Torben A.
Jensen, Uffe Birk
Friedman, Eitan
Laitman, Yael
Shimon, Shani Paluch
Simard, Jacques
Easton, Douglas F.
Offit, Kenneth
Couch, Fergus J.
Chenevix-Trench, Georgia
Antoniou, Antonis C.
Benitez, Javier
Title DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Journal name PLoS Genetics   Check publisher's open access policy
ISSN 1553-7404
1553-7390
Publication date 2014
Sub-type Article (original research)
DOI 10.1371/journal.pgen.1004256
Open Access Status DOI
Volume 10
Issue 4
Total pages 1
Place of publication San Francisco, CA, U.S.A.
Publisher Public Library of Science
Collection year 2015
Language eng
Subject 1311 Genetics
1312 Molecular Biology
1105 Dentistry
1306 Cancer Research
2716 Genetics (clinical)
2700 Medicine
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<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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
Official Audit
School of Medicine Publications
 
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Created: Thu, 26 Mar 2015, 08:50:48 EST by Matthew Lamb on behalf of School of Medicine