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

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 c...

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Main Authors:	Osorio, Ana, Milne, Roger L., Kuchenbaecker, Karoline, Vaclová, Tereza, Pita, Guillermo, Alonso, Rosario, Peterlongo, Paolo, Blanco, Ignacio, de la Hoya, Miguel, Duran, Mercedes, Díez, Orland, Ramón y Cajal, Teresa, Konstantopoulou, Irene, Martínez-Bouzas, Cristina, Andrés Conejero, Raquel, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, SWE-BRCA, 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., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Infante, Mar, Herráez, Belén, 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 Jörg, 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, Rodríguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldés, Trinidad, Nevanlinna, Heli, Aittomäki, 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., Gómez Garcia, Encarna B., Hoogerbrugge, Nicoline, Collée, J. Margriet, van Deurzen, Carolien H. M., van der Luijt, Rob B., Devilee, Peter, HEBON, Olah, Edith, Lázaro, Conxi, Teulé, Alex, Menéndez, 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, Investigators, kConFab, 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, Geschwantler Kaulich, Daphne, 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
Format:	Online
Language:	English
Published:	Public Library of Science 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974638/

id	pubmed-3974638
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spelling	pubmed-39746382014-04-08 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 Vaclová, Tereza Pita, Guillermo Alonso, Rosario Peterlongo, Paolo Blanco, Ignacio de la Hoya, Miguel Duran, Mercedes Díez, Orland Ramón y Cajal, Teresa Konstantopoulou, Irene Martínez-Bouzas, Cristina Andrés Conejero, Raquel Soucy, Penny McGuffog, Lesley Barrowdale, Daniel Lee, Andrew SWE-BRCA, 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. Jønson, Lars Ejlertsen, Bent Gerdes, Anne-Marie Infante, Mar Herráez, Belén 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 Jörg 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 Rodríguez, Gustavo Brewster, Wendy Wakeley, Katie Rutherford, Thomas Caldés, Trinidad Nevanlinna, Heli Aittomäki, 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. Gómez Garcia, Encarna B. Hoogerbrugge, Nicoline Collée, J. Margriet van Deurzen, Carolien H. M. van der Luijt, Rob B. Devilee, Peter HEBON, Olah, Edith Lázaro, Conxi Teulé, Alex Menéndez, 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 Investigators, kConFab 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 Geschwantler Kaulich, Daphne 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 Research Article 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. Public Library of Science 2014-04-03 /pmc/articles/PMC3974638/ /pubmed/24698998 http://dx.doi.org/10.1371/journal.pgen.1004256 Text en https://creativecommons.org/publicdomain/zero/1.0/ This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration, which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Osorio, Ana Milne, Roger L. Kuchenbaecker, Karoline Vaclová, Tereza Pita, Guillermo Alonso, Rosario Peterlongo, Paolo Blanco, Ignacio de la Hoya, Miguel Duran, Mercedes Díez, Orland Ramón y Cajal, Teresa Konstantopoulou, Irene Martínez-Bouzas, Cristina Andrés Conejero, Raquel Soucy, Penny McGuffog, Lesley Barrowdale, Daniel Lee, Andrew SWE-BRCA, 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. Jønson, Lars Ejlertsen, Bent Gerdes, Anne-Marie Infante, Mar Herráez, Belén 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 Jörg 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 Rodríguez, Gustavo Brewster, Wendy Wakeley, Katie Rutherford, Thomas Caldés, Trinidad Nevanlinna, Heli Aittomäki, 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. Gómez Garcia, Encarna B. Hoogerbrugge, Nicoline Collée, J. Margriet van Deurzen, Carolien H. M. van der Luijt, Rob B. Devilee, Peter HEBON, Olah, Edith Lázaro, Conxi Teulé, Alex Menéndez, 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 Investigators, kConFab 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 Geschwantler Kaulich, Daphne 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
spellingShingle	Osorio, Ana Milne, Roger L. Kuchenbaecker, Karoline Vaclová, Tereza Pita, Guillermo Alonso, Rosario Peterlongo, Paolo Blanco, Ignacio de la Hoya, Miguel Duran, Mercedes Díez, Orland Ramón y Cajal, Teresa Konstantopoulou, Irene Martínez-Bouzas, Cristina Andrés Conejero, Raquel Soucy, Penny McGuffog, Lesley Barrowdale, Daniel Lee, Andrew SWE-BRCA, 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. Jønson, Lars Ejlertsen, Bent Gerdes, Anne-Marie Infante, Mar Herráez, Belén 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 Jörg 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 Rodríguez, Gustavo Brewster, Wendy Wakeley, Katie Rutherford, Thomas Caldés, Trinidad Nevanlinna, Heli Aittomäki, 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. Gómez Garcia, Encarna B. Hoogerbrugge, Nicoline Collée, J. Margriet van Deurzen, Carolien H. M. van der Luijt, Rob B. Devilee, Peter HEBON, Olah, Edith Lázaro, Conxi Teulé, Alex Menéndez, 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 Investigators, kConFab 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 Geschwantler Kaulich, Daphne 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 DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
author_facet	Osorio, Ana Milne, Roger L. Kuchenbaecker, Karoline Vaclová, Tereza Pita, Guillermo Alonso, Rosario Peterlongo, Paolo Blanco, Ignacio de la Hoya, Miguel Duran, Mercedes Díez, Orland Ramón y Cajal, Teresa Konstantopoulou, Irene Martínez-Bouzas, Cristina Andrés Conejero, Raquel Soucy, Penny McGuffog, Lesley Barrowdale, Daniel Lee, Andrew SWE-BRCA, 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. Jønson, Lars Ejlertsen, Bent Gerdes, Anne-Marie Infante, Mar Herráez, Belén 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 Jörg 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 Rodríguez, Gustavo Brewster, Wendy Wakeley, Katie Rutherford, Thomas Caldés, Trinidad Nevanlinna, Heli Aittomäki, 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. Gómez Garcia, Encarna B. Hoogerbrugge, Nicoline Collée, J. Margriet van Deurzen, Carolien H. M. van der Luijt, Rob B. Devilee, Peter HEBON, Olah, Edith Lázaro, Conxi Teulé, Alex Menéndez, 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 Investigators, kConFab 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 Geschwantler Kaulich, Daphne 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
author_sort	Osorio, Ana
title	DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
title_short	DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
title_full	DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
title_fullStr	DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
title_full_unstemmed	DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
title_sort	dna glycosylases involved in base excision repair may be associated with cancer risk in brca1 and brca2 mutation carriers
description	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.
publisher	Public Library of Science
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974638/
_version_	1612073808068345856

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

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