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

Ana Osorio, Roger L. Milne, Karoline Kuchenbaecker, Tereza Vaclová, Guillermo Pita, Rosario Alonso, Paolo Peterlongo, Ignacio Blanco, Miguel de la Hoya, Mercedes Duran, Orland Díez, Teresa Ramón y Cajal, Irene Konstantopoulou, Cristina Martínez-Bouzas, Raquel Andrés Conejero, Penny Soucy, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Brita ArverJohanna Rantala, Niklas Loman, Hans Ehrencrona, Olufunmilayo I. Olopade, Mary S. Beattie, Susan M. Domchek, Katherine Nathanson, Timothy R. Rebbeck, Banu K. Arun, Beth Y. Karlan, Christine Walsh, Jenny Lester, Esther M. John, Alice S. Whittemore, Mary B. Daly, Melissa Southey, John Hopper, Mary B. Terry, Saundra S. Buys, Ramunas Janavicius, Cecilia M. Dorfling, Elizabeth J. van Rensburg, Linda Steele, Susan L. Neuhausen, Yuan Chun Ding, Thomas v O Hansen, Lars Jønson, Bent Ejlertsen, Anne Marie Gerdes, Mar Infante, Belén Herráez, Leticia Thais Moreno, Jeffrey N. Weitzel, Josef Herzog, Kisa Weeman, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Giulietta Scuvera, Bernardo Bonanni, Frederique Mariette, Sara Volorio, Alessandra Viel, Liliana Varesco, Laura Papi, Laura Ottini, Maria Grazia Tibiletti, Paolo Radice, Drakoulis Yannoukakos, Judy Garber, Steve Ellis, Debra Frost, Radka Platte, Elena Fineberg, Gareth Evans, Fiona Lalloo, Louise Izatt, Ros Eeles, Julian Adlard, Rosemarie Davidson, Trevor Cole, Diana Eccles, Jackie Cook, Shirley Hodgson, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Mary Porteous, Lucy Side, Lisa Walker, Patrick Morrison, Alan Donaldson, John Kennedy, Claire Foo, Andrew K. Godwin, Rita Katharina Schmutzler, Barbara Wappenschmidt, Kerstin Rhiem, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Hans Jörg Plendl, Dieter Niederacher, Christian Sutter, Shan Wang-Gohrke, Doris Steinemann, Sabine Preisler-Adams, Karin Kast, Raymonda Varon-Mateeva, Andrea Gehrig, Dominique Stoppa-Lyonnet, Olga M. Sinilnikova, Sylvie Mazoyer, Francesca Damiola, Bruce Poppe, Kathleen Claes, Marion Piedmonte, Kathy Tucker, Floor Backes, Gustavo Rodríguez, Wendy Brewster, Katie Wakeley, Thomas Rutherford, Trinidad Caldés, Heli Nevanlinna, Kristiina Aittomäki, Matti A. Rookus, Theo A M van Os, Lizet van der Kolk, J. L. de Lange, Hanne E J Meijers-Heijboer, A. H. van der Hout, Christi J. van Asperen, Encarna B. Gómez Garcia, Nicoline Hoogerbrugge, J. Margriet Collée, Carolien H M van Deurzen, Rob B. van der Luijt, Peter Devilee, E. Oláh, Conxi Lázaro, Alex Teulé, Mireia Menéndez, Anna Jakubowska, Cezary Cybulski, Jacek Gronwald, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Oskar Th Johannsson, Christine Maugard, Marco Montagna, Silvia Tognazzo, Manuel R. Teixeira, Sue Healey, Curtis Olswold, Lucia Guidugli, Noralane Lindor, Susan Slager, Csilla I. Szabo, Joseph Vijai, Mark Robson, Noah Kauff, Liying Zhang, Rohini Rau-Murthy, Anneliese Fink-Retter, Christian F. Singer, Christine Rappaport, Daphne Geschwantler Kaulich, Georg Pfeiler, Muy Kheng Tea, Andreas Berger, Catherine M. Phelan, Mark H. Greene, Phuong L. Mai, Flavio Lejbkowicz, Irene Andrulis, Anna Marie Mulligan, Gord Glendon, Amanda Ewart Toland, Anders Bojesen, Inge Sokilde Pedersen, Lone Sunde, Mads Thomassen, Torben A. Kruse, Uffe Birk Jensen, Eitan Friedman, Yael Laitman, Shani Paluch Shimon, Jacques Simard, Douglas F. Easton, Kenneth Offit, Fergus J. Couch, Georgia Chenevix-Trench, Antonis C. Antoniou, Javier Benitez

Research output: Contribution to journalArticle

22 Citations (Scopus)

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-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.

Original languageEnglish
Article numbere1004256
JournalPLoS Genetics
Volume10
Issue number4
DOIs
Publication statusPublished - 2014

Fingerprint

DNA Glycosylases
glycosylases
DNA repair
DNA Repair
repair
mutation
single nucleotide polymorphism
Single Nucleotide Polymorphism
DNA
polymorphism
Mutation
neoplasms
ovarian neoplasms
gene
Neoplasms
Ovarian Neoplasms
genes
BRCA2 Gene
Breast Neoplasms
BRCA1 Gene

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Ecology, Evolution, Behavior and Systematics
  • Cancer Research
  • Genetics(clinical)
  • Medicine(all)

Cite this

Osorio, A., Milne, R. L., Kuchenbaecker, K., Vaclová, T., Pita, G., Alonso, R., ... Benitez, J. (2014). DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLoS Genetics, 10(4), [e1004256]. https://doi.org/10.1371/journal.pgen.1004256

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; 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; Oláh, E.; 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; 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.

In: PLoS Genetics, Vol. 10, No. 4, e1004256, 2014.

Research output: Contribution to journalArticle

Osorio, A, Milne, RL, Kuchenbaecker, K, Vaclová, T, Pita, G, Alonso, R, Peterlongo, P, Blanco, I, de la Hoya, M, Duran, M, Díez, O, Ramón y Cajal, T, Konstantopoulou, I, Martínez-Bouzas, C, Andrés Conejero, R, Soucy, P, McGuffog, L, Barrowdale, D, Lee, A, Arver, B, Rantala, J, Loman, N, Ehrencrona, H, Olopade, OI, Beattie, MS, Domchek, SM, Nathanson, K, Rebbeck, TR, Arun, BK, Karlan, BY, Walsh, C, Lester, J, John, EM, Whittemore, AS, Daly, MB, Southey, M, Hopper, J, Terry, MB, Buys, SS, Janavicius, R, Dorfling, CM, van Rensburg, EJ, Steele, L, Neuhausen, SL, Ding, YC, Hansen, TVO, Jønson, L, Ejlertsen, B, Gerdes, AM, Infante, M, Herráez, B, Moreno, LT, Weitzel, JN, Herzog, J, Weeman, K, Manoukian, S, Peissel, B, Zaffaroni, D, Scuvera, G, Bonanni, B, Mariette, F, Volorio, S, Viel, A, Varesco, L, Papi, L, Ottini, L, Tibiletti, MG, Radice, P, Yannoukakos, D, Garber, J, Ellis, S, Frost, D, Platte, R, Fineberg, E, Evans, G, Lalloo, F, Izatt, L, Eeles, R, Adlard, J, Davidson, R, Cole, T, Eccles, D, Cook, J, Hodgson, S, Brewer, C, Tischkowitz, M, Douglas, F, Porteous, M, Side, L, Walker, L, Morrison, P, Donaldson, A, Kennedy, J, Foo, C, Godwin, AK, Schmutzler, RK, Wappenschmidt, B, Rhiem, K, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Plendl, HJ, Niederacher, D, Sutter, C, Wang-Gohrke, S, Steinemann, D, Preisler-Adams, S, Kast, K, Varon-Mateeva, R, Gehrig, A, Stoppa-Lyonnet, D, Sinilnikova, OM, Mazoyer, S, Damiola, F, Poppe, B, Claes, K, Piedmonte, M, Tucker, K, Backes, F, Rodríguez, G, Brewster, W, Wakeley, K, Rutherford, T, Caldés, T, Nevanlinna, H, Aittomäki, K, Rookus, MA, van Os, TAM, van der Kolk, L, de Lange, JL, Meijers-Heijboer, HEJ, van der Hout, AH, van Asperen, CJ, Gómez Garcia, EB, Hoogerbrugge, N, Collée, JM, van Deurzen, CHM, van der Luijt, RB, Devilee, P, Oláh, E, Lázaro, C, Teulé, A, Menéndez, M, Jakubowska, A, Cybulski, C, Gronwald, J, Lubinski, J, Durda, K, Jaworska-Bieniek, K, Johannsson, OT, Maugard, C, Montagna, M, Tognazzo, S, Teixeira, MR, Healey, S, Olswold, C, Guidugli, L, Lindor, N, Slager, S, Szabo, CI, Vijai, J, Robson, M, Kauff, N, Zhang, L, Rau-Murthy, R, Fink-Retter, A, Singer, CF, Rappaport, C, Geschwantler Kaulich, D, Pfeiler, G, Tea, MK, Berger, A, Phelan, CM, Greene, MH, Mai, PL, Lejbkowicz, F, Andrulis, I, Mulligan, AM, Glendon, G, Toland, AE, Bojesen, A, Pedersen, IS, Sunde, L, Thomassen, M, Kruse, TA, Jensen, UB, Friedman, E, Laitman, Y, Shimon, SP, Simard, J, Easton, DF, Offit, K, Couch, FJ, Chenevix-Trench, G, Antoniou, AC & Benitez, J 2014, 'DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers', PLoS Genetics, vol. 10, no. 4, e1004256. https://doi.org/10.1371/journal.pgen.1004256
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 ; 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 ; Oláh, E. ; 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 ; 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. In: PLoS Genetics. 2014 ; Vol. 10, No. 4.
@article{51f744648ffc457b9f6bf8fe56ca3a56,
title = "DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers",
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-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.",
author = "Ana Osorio and Milne, {Roger L.} and Karoline Kuchenbaecker and Tereza Vaclov{\'a} and Guillermo Pita and Rosario Alonso and Paolo Peterlongo and Ignacio Blanco and {de la Hoya}, Miguel and Mercedes Duran and Orland D{\'i}ez and {Ram{\'o}n y Cajal}, Teresa and Irene Konstantopoulou and Cristina Mart{\'i}nez-Bouzas and {Andr{\'e}s Conejero}, Raquel and Penny Soucy and Lesley McGuffog and Daniel Barrowdale and Andrew Lee and Brita Arver and Johanna Rantala and Niklas Loman and Hans Ehrencrona and Olopade, {Olufunmilayo I.} and Beattie, {Mary S.} and Domchek, {Susan M.} and Katherine Nathanson and Rebbeck, {Timothy R.} and Arun, {Banu K.} and Karlan, {Beth Y.} and Christine Walsh and Jenny Lester and John, {Esther M.} and Whittemore, {Alice S.} and Daly, {Mary B.} and Melissa Southey and John Hopper and Terry, {Mary B.} and Buys, {Saundra S.} and Ramunas Janavicius and Dorfling, {Cecilia M.} and {van Rensburg}, {Elizabeth J.} and Linda Steele and Neuhausen, {Susan L.} and Ding, {Yuan Chun} and Hansen, {Thomas v O} and Lars J{\o}nson and Bent Ejlertsen and Gerdes, {Anne Marie} and Mar Infante and Bel{\'e}n Herr{\'a}ez and Moreno, {Leticia Thais} and Weitzel, {Jeffrey N.} and Josef Herzog and Kisa Weeman and Siranoush Manoukian and Bernard Peissel and Daniela Zaffaroni and Giulietta Scuvera and Bernardo Bonanni and Frederique Mariette and Sara Volorio and Alessandra Viel and Liliana Varesco and Laura Papi and Laura Ottini and Tibiletti, {Maria Grazia} and Paolo Radice and Drakoulis Yannoukakos and Judy Garber and Steve Ellis and Debra Frost and Radka Platte and Elena Fineberg and Gareth Evans and Fiona Lalloo and Louise Izatt and Ros Eeles and Julian Adlard and Rosemarie Davidson and Trevor Cole and Diana Eccles and Jackie Cook and Shirley Hodgson and Carole Brewer and Marc Tischkowitz and Fiona Douglas and Mary Porteous and Lucy Side and Lisa Walker and Patrick Morrison and Alan Donaldson and John Kennedy and Claire Foo and Godwin, {Andrew K.} and Schmutzler, {Rita Katharina} and Barbara Wappenschmidt and Kerstin Rhiem and Christoph Engel and Alfons Meindl and Nina Ditsch and Norbert Arnold and Plendl, {Hans J{\"o}rg} and Dieter Niederacher and Christian Sutter and Shan Wang-Gohrke and Doris Steinemann and Sabine Preisler-Adams and Karin Kast and Raymonda Varon-Mateeva and Andrea Gehrig and Dominique Stoppa-Lyonnet and Sinilnikova, {Olga M.} and Sylvie Mazoyer and Francesca Damiola and Bruce Poppe and Kathleen Claes and Marion Piedmonte and Kathy Tucker and Floor Backes and Gustavo Rodr{\'i}guez and Wendy Brewster and Katie Wakeley and Thomas Rutherford and Trinidad Cald{\'e}s and Heli Nevanlinna and Kristiina Aittom{\"a}ki and Rookus, {Matti A.} and {van Os}, {Theo A M} and {van der Kolk}, Lizet and {de Lange}, {J. L.} and Meijers-Heijboer, {Hanne E J} and {van der Hout}, {A. H.} and {van Asperen}, {Christi J.} and {G{\'o}mez Garcia}, {Encarna B.} and Nicoline Hoogerbrugge and Coll{\'e}e, {J. Margriet} and {van Deurzen}, {Carolien H M} and {van der Luijt}, {Rob B.} and Peter Devilee and E. Ol{\'a}h and Conxi L{\'a}zaro and Alex Teul{\'e} and Mireia Men{\'e}ndez and Anna Jakubowska and Cezary Cybulski and Jacek Gronwald and Jan Lubinski and Katarzyna Durda and Katarzyna Jaworska-Bieniek and Johannsson, {Oskar Th} and Christine Maugard and Marco Montagna and Silvia Tognazzo and Teixeira, {Manuel R.} and Sue Healey and Curtis Olswold and Lucia Guidugli and Noralane Lindor and Susan Slager and Szabo, {Csilla I.} and Joseph Vijai and Mark Robson and Noah Kauff and Liying Zhang and Rohini Rau-Murthy and Anneliese Fink-Retter and Singer, {Christian F.} and Christine Rappaport and {Geschwantler Kaulich}, Daphne and Georg Pfeiler and Tea, {Muy Kheng} and Andreas Berger and Phelan, {Catherine M.} and Greene, {Mark H.} and Mai, {Phuong L.} and Flavio Lejbkowicz and Irene Andrulis and Mulligan, {Anna Marie} and Gord Glendon and Toland, {Amanda Ewart} and Anders Bojesen and Pedersen, {Inge Sokilde} and Lone Sunde and Mads Thomassen and Kruse, {Torben A.} and Jensen, {Uffe Birk} and Eitan Friedman and Yael Laitman and Shimon, {Shani Paluch} and Jacques Simard and Easton, {Douglas F.} and Kenneth Offit and Couch, {Fergus J.} and Georgia Chenevix-Trench and Antoniou, {Antonis C.} and Javier Benitez",
year = "2014",
doi = "10.1371/journal.pgen.1004256",
language = "English",
volume = "10",
journal = "PLoS Genetics",
issn = "1553-7390",
publisher = "Public Library of Science",
number = "4",

}

TY - JOUR

T1 - DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

AU - Osorio, Ana

AU - Milne, Roger L.

AU - Kuchenbaecker, Karoline

AU - Vaclová, Tereza

AU - Pita, Guillermo

AU - Alonso, Rosario

AU - Peterlongo, Paolo

AU - Blanco, Ignacio

AU - de la Hoya, Miguel

AU - Duran, Mercedes

AU - Díez, Orland

AU - Ramón y Cajal, Teresa

AU - Konstantopoulou, Irene

AU - Martínez-Bouzas, Cristina

AU - Andrés Conejero, Raquel

AU - Soucy, Penny

AU - McGuffog, Lesley

AU - Barrowdale, Daniel

AU - Lee, Andrew

AU - Arver, Brita

AU - Rantala, Johanna

AU - Loman, Niklas

AU - Ehrencrona, Hans

AU - Olopade, Olufunmilayo I.

AU - Beattie, Mary S.

AU - Domchek, Susan M.

AU - Nathanson, Katherine

AU - Rebbeck, Timothy R.

AU - Arun, Banu K.

AU - Karlan, Beth Y.

AU - Walsh, Christine

AU - Lester, Jenny

AU - John, Esther M.

AU - Whittemore, Alice S.

AU - Daly, Mary B.

AU - Southey, Melissa

AU - Hopper, John

AU - Terry, Mary B.

AU - Buys, Saundra S.

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AU - Chenevix-Trench, Georgia

AU - Antoniou, Antonis C.

AU - Benitez, Javier

PY - 2014

Y1 - 2014

N2 - 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-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.

AB - 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-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.

UR - http://www.scopus.com/inward/record.url?scp=84901332067&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84901332067&partnerID=8YFLogxK

U2 - 10.1371/journal.pgen.1004256

DO - 10.1371/journal.pgen.1004256

M3 - Article

C2 - 24698998

AN - SCOPUS:84901332067

VL - 10

JO - PLoS Genetics

JF - PLoS Genetics

SN - 1553-7390

IS - 4

M1 - e1004256

ER -